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Disease on EC 4.2.1.22 - cystathionine beta-synthase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Aberrant Crypt Foci
Production of hydrogen sulfide by the intestinal microbiota and epithelial cells and consequences for the colonic and rectal mucosa.
Abortion, Spontaneous
Association Between MTHFR 1298A>C Polymorphism and Spontaneous Abortion with Fetal Chromosomal Aneuploidy.
Abscess
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Achlorhydria
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Is eradication of Helicobacter pylori with colloidal bismuth subcitrate quadruple therapy safe?
Acidosis
Inhibition of cystathionine-{beta}-synthase activity during renal ischemia-reperfusion: role of pH and nitric oxide.
The impact of PCO2 and H+ on the release of acetylcholine from the cat carotid body.
The role of carotid bodies in the generation of active inspiratory and expiratory responses to exercise in rats.
Toward understanding the causes of blood pH irregularities and the roles of newly described binuclear neurons of carotid bodies on blood pH regulation during subarachnoid hemorrhage: Experimental study.
Acne Vulgaris
[Treatment of acne with a yeast preparation]
Acquired Immunodeficiency Syndrome
Photographic essay. Anterior segment optical coherence tomography findings of early capsular block syndrome.
Status of HIV Case-Based Surveillance Implementation - 39 U.S. PEPFAR-Supported Countries, May-July 2019.
Vitamin B-6 deficiency suppresses the hepatic transsulfuration pathway but increases glutathione concentration in rats fed AIN-76A or AIN-93G diets.
Acute Kidney Injury
A case of bismuth intoxication with irreversible renal damage.
Fanconi's syndrome, acute renal failure, and tonsil ulcerations after colloidal bismuth subcitrate intoxication.
Adenocarcinoma
Appreciation of Pattern in Diagnosis of Lung Adenocarcinoma from Cytology Specimen: Our Experience with Fine Needle Aspiration Cytology and Cell Block in a Resource Constraint Setup.
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
DNA hypomethylation of CBS promoter induced by folate deficiency is a potential noninvasive circulating biomarker for colorectal adenocarcinomas.
Evaluation of cell blocks from effusion specimens in Gynecologic Oncopathology: An experience of 220 cases, diagnosed at a Tertiary Cancer Referral Center.
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Adenocarcinoma of Lung
PDK2 induces Cisplatin-resistance in lung adenocarcinoma via transcriptional regulation of CNNM3.
Adenocarcinoma, Follicular
The use of a covered stent in carotid blowout syndrome.
Adenoma
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
Adenomatous Polyps
Upregulation of Cystathionine-?-synthase in Colonic Epithelia Reprograms Metabolism and Promotes Carcinogenesis.
Adrenoleukodystrophy
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Agnosia
Effect of Prism Adaptation Therapy on the Activities of Daily Living and Awareness for Spatial Neglect: A Secondary Analysis of the Randomized, Controlled Trial.
Agraphia
Measuring disease progression in corticobasal syndrome.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Alice in Wonderland Syndrome
What associates Charles Bonnet syndrome with age-related macular degeneration?
Alkalosis
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
Alopecia
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Cystathionine ?-synthase-deficient mice thrive on a low-methionine diet.
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
Nanotheranostics in evidence based personalized medicine.
Alveolitis, Extrinsic Allergic
Morphologic Features of Fibrotic Hypersensitivity Pneumonitis in Transbronchial Cryobiopsies Versus Video-Assisted Thoracoscopic Biopsies: An In Silico Study.
Alzheimer Disease
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease.
Astrocytic Redox Remodeling by Amyloid Beta Peptide.
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.
Corticobasal degeneration and corticobasal syndrome: A review.
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Corticobasal syndrome: Five new things.
Cystathionine beta synthase as a risk factor for Alzheimer disease.
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Dual-Phase ?-Amyloid PET Captures Neuronal Injury and Amyloidosis in Corticobasal Syndrome.
Early stage memory impairment, visual hallucinations, and myoclonus combined with temporal lobe atrophy predict Alzheimer's disease pathology in corticobasal syndrome.
Endogenous production of hydrogen sulfide in mammals.
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Impaired verbal comprehension of quantifiers in corticobasal syndrome.
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Individual Brain Metabolic Signatures in Corticobasal Syndrome.
Is the pathology of corticobasal syndrome predictable in life?
Lateralized Cortical Involvement and Contralateral Parkinsonism without Basal Ganglia Involvement in Two Autopsy Cases of Corticobasal Syndrome-Alzheimer's Disease.
Limb immobilization and corticobasal syndrome.
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Predicting amyloid status in corticobasal syndrome using modified clinical criteria, magnetic resonance imaging and fluorodeoxyglucose positron emission tomography.
Relationship of homocysteine and gene polymorphisms of its related metabolic enzymes with Alzheimer's disease.
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Tau Imaging in the 4-Repeat-Tauopathies Progressive Supranuclear Palsy and Corticobasal Syndrome: A 11C-Pyridinyl-Butadienyl-Benzothiazole 3 PET Pilot Study.
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Treatment of typical Charles Bonnet syndrome with donepezil.
[Corticobasal syndrome: recent advances and future directions].
[H2S, a new neuromodulator]
[Neuroimaging in corticobasal syndrome].
[Neurosteroid dehydroepiandrosterone and brain function].
[Pathology of corticobasal syndrome].
[The diagnostic challenge of corticobasal degeneration: distinction between clinical syndrome and pathology].
[The genetics of corticobasal syndrome].
Amblyopia
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Amnesia
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Amyloidosis
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers.
Hyperhomocysteinemic Alzheimer's mouse model of amyloidosis shows increased brain amyloid beta peptide levels.
Amyotrophic Lateral Sclerosis
Mutation analysis of C9orf72 in patients with corticobasal syndrome.
Anaplasia
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
Anemia
Cystathionine ?-synthase is required for body iron homeostasis.
Anemia, Megaloblastic
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
Anemia, Sickle Cell
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease.
Anencephaly
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Aneurysm, False
Endovascular treatment of carotid blowout syndrome: who and how to treat.
Polytetrafluoroethylene-covered nitinol stent graft for treatment of carotid artery blowout syndrome in head and neck cancer patients.
Risk factors of recurrent carotid blowout syndrome and strategy of endovascular management.
Angina Pectoris
[Different methods of myocardial revascularization in non-stable stenocardia]
Angina, Stable
A perspective on the three large multicenter randomized clinical trials of coronary bypass surgery for chronic stable angina.
Aortic Valve Stenosis
Prophylactic aortic valve replacement in older patients for mild aortic stenosis during coronary bypass surgery.
Aphasia
Brain Perfusion in Corticobasal Syndrome with Progressive Aphasia.
Diagnoses of corticobasal syndrome and corticobasal degeneration.
Focal cortical presentations of Alzheimer's disease.
Language Disorder in Progressive Supranuclear Palsy and Corticobasal Syndrome: Neural Correlates and Detection by the MLSE Screening Tool.
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
[Criteria for the diagnosis of corticobasal degeneration].
Aphasia, Broca
Brain Perfusion in Corticobasal Syndrome with Progressive Aphasia.
Aphasia, Primary Progressive
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Diagnoses of corticobasal syndrome and corticobasal degeneration.
Language impairment in progressive supranuclear palsy and corticobasal syndrome.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
[Criteria for the diagnosis of corticobasal degeneration].
Apnea
Contribution of the Retrotrapezoid Nucleus and Carotid Bodies to Hypercapnia- and Hypoxia-induced Arousal from Sleep.
Apraxia, Ideomotor
Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?
Apraxia in movement disorders.
Left parietal cortex transcranial direct current stimulation enhances gesture processing in corticobasal syndrome.
Apraxias
A model-based approach to understanding apraxia in corticobasal syndrome.
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.
Apraxia and motor dysfunction in corticobasal syndrome.
Apraxia in movement disorders.
Apraxia in progressive nonfluent aphasia.
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
Language impairment in progressive supranuclear palsy and corticobasal syndrome.
Left parietal cortex transcranial direct current stimulation enhances gesture processing in corticobasal syndrome.
Limb apraxia in corticobasal syndrome.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Swallowing disturbances in the corticobasal syndrome.
Symmetric corticobasal degeneration (S-CBD).
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Arrhythmias, Cardiac
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Arterial Occlusive Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
A common 844INS68 insertion variant in the cystathionine beta-synthase gene.
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.
Arteriosclerosis
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
Arthralgia
Bone Scintigraphy in the Diagnosis of Rheumatoid Arthritis: Is There Additional Value of Bone Scintigraphy with Blood Pool Phase over Conventional Bone Scintigraphy?
Arthritis
Bone Scintigraphy in the Diagnosis of Rheumatoid Arthritis: Is There Additional Value of Bone Scintigraphy with Blood Pool Phase over Conventional Bone Scintigraphy?
New insights into hallux valgus by whole exome sequencing study.
Ascariasis
The influence of ethnicity, an atopic family history, and maternal ascariasis on cord blood serum IgE concentrations.
Asthma
Hydrogen sulfide and asthma.
[Regulative mechanism of budesonide on endogenous hydrogen sulfide, cystathionine-gamma-lyase and cystathionine-beta-synthase system in asthmatic rats].
Ataxia
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
FDG-PET in Creutzfeldt-Jakob disease: Analysis of clinical-PET correlation.
Ataxia Telangiectasia
DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
Atherosclerosis
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Carotid body modulation in systolic heart failure in the clinical perspective.
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation.
Hyperhomocysteinemia Potentiates Hyperglycemia-induced Inflammatory Monocyte Differentiation and Atherosclerosis.
Interleukin-3/Granulocyte Macrophage Colony-Stimulating Factor Receptor Promotes Stem Cell Expansion, Monocytosis, and Atheroma Macrophage Burden in Mice With Hematopoietic ApoE Deficiency.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.
Mechanisms of thrombogenesis and accelerated atherogenesis in homocysteinaemia.
Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype.
Thiol compounds metabolism in mice, rats and humans: Comparative study and potential explanation of rodents protection against vascular diseases.
[Tissue distribution of cystathionine beta-synthase and its changes during the development of atherosclerosis in rats].
Atrial Fibrillation
Anatomic Parameters Predicting Procedural Difficulty and Balloon Temperature Predicting Successful Applications in Individual Pulmonary Veins During 28-mm Second-Generation Cryoballoon Ablation.
Pressure-guided second-generation cryoballoon pulmonary vein isolation: Prospective comparison of the procedural and clinical outcomes with the conventional strategy.
Atypical Squamous Cells of the Cervix
Cell Block Preparation versus Liquid-Based Thin-Layer Cervical Cytology: A Comparative Study Evaluating Human Papillomavirus Testing by Hybrid Capture-2/Cervista, in situ Hybridization and p16 Immunohistochemistry.
The utility of pap cell block preparations with liqui-PREP™ cell pellets to clarify the cytological diagnosis of atypical squamous cells of undetermined significance and atypical glandular cells.
Autoimmune Diseases
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
Bacterial Infections
[Animal experiment and cell biology study of Saccharomyces cerevisiae Hansen CBS 5926 in the non-specific enhancement of resistance to infection]
Blindness
Charles Bonnet syndrome associated with a first attack of multiple sclerosis.
[Charles Bonnet's Syndrome: Clinical Insights in a Fascinating Disease.]
Blister
Coma blisters sans coma.
Bone Diseases
Computerized bone scan. A potentially useful technique to measure response in prostatic carcinoma.
Unique gating properties of C. elegans ClC anion channel splice variants are determined by altered CBS domain conformation and the R-helix linker.
Bone Resorption
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Bradycardia
Hydrogen sulfide as an oxygen sensor in trout gill chemoreceptors.
The cardiovascular effects of central hydrogen sulphide are related to K(ATP) channels activation.
Brain Contusion
[The Role of CBS in Injury Time Estimation after Brain Contusion].
Brain Diseases
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Dyrk1A, a Serine/Threonine Kinase, is Involved in ERK and Akt Activation in the Brain of Hyperhomocysteinemic Mice.
Brain Edema
Cerebral edema associated with betaine treatment in classical homocystinuria.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Exogenous Hydrogen Sulfide Offers Neuroprotection on Intracerebral Hemorrhage Injury Through Modulating Endogenous H2S Metabolism in Mice.
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Brain Infarction
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Brain Injuries
Dynamic change of hydrogen sulfide after traumatic brain injury and its effect in mice.
Neuroprotective Effects of Early Brain Injury after Subarachnoid Hemorrhage in Rats by Calcium Channel Mediating Hydrogen Sulfide.
Upregulation of cystathione ?-synthase and p70S6K/S6 in neonatal hypoxic ischemic brain injury.
Brain Injuries, Traumatic
The Expression Changes of Cystathionine-?-synthase in Brain Cortex After Traumatic Brain Injury.
Brain Ischemia
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Crystal Structures of Cystathionine ?-Synthase from Saccharomyces cerevisiae: One Enzymatic Step at a Time.
Dynamic change of hydrogen sulfide during global cerebral ischemia-reperfusion and its effect in rats.
Endovascular treatment of carotid blowout syndrome: who and how to treat.
Gain-of-function polymorphisms of cystathionine ?-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Hydrogen-rich saline ameliorates hippocampal neuron apoptosis through up-regulating the expression of cystathionine ?-synthase (CBS) after cerebral ischemia- reperfusion in rats.
Steroid-responsive charles bonnet syndrome in temporal arteritis.
[Evaluation of cerebral blood flow in severe brain injuries by SVO2 measurement in the internal jugular vein]
Brain Neoplasms
On the effects of CP 55-940 and other cannabinoid receptor agonists in C6 and U373 cell lines.
What associates Charles Bonnet syndrome with age-related macular degeneration?
Brain Stem Infarctions
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Breast Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Attenuation of Antioxidant Capacity in Human Breast Cancer Cells by Carbon Monoxide through Inhibition of Cystathionine ?-Synthase Activity: Implications in Chemotherapeutic Drug Sensitivity.
Bioinformatics Analysis Identifies IL6ST as a Potential Tumor Suppressor Gene for Triple-Negative Breast Cancer.
Bone marrow scintigraphy in breast cancer.
Bright-field HER2 dual in situ hybridization (DISH) assay on breast cancer cell blocks: a comparative study with histological sections.
Comparison of gene expression profiles in core biopsies and corresponding surgical breast cancer samples.
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
ER, PR, and Her2 immunocytochemistry on cell-transferred cytologic smears of primary and metastatic breast carcinomas: A Comparison Study With Formalin-Fixed Cell Blocks and Surgical Biopsies.
Future Aspects for Cannabinoids in Breast Cancer Therapy.
Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses.
HER 2 immunohistochemistry for breast cancer cell blocks can be used in the same way as that used for histological specimens.
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Impact of intraoperative radiotherapy on cosmetic outcome and complications after oncoplastic breast surgery.
Oncologic Outcome of Endoscopic Assisted Breast Surgery Compared with Conventional Approach in Breast Cancer: An Analysis of 3426 Primary Operable Breast Cancer Patients from Single Institute with and Without Propensity Score Matching.
Plasma homocysteine levels and genetic polymorphisms in folate metablism are associated with breast cancer risk in chinese women.
Polymorphisms in the folate-metabolizing genes MTR, MTRR, and CBS and breast cancer risk.
Quantitative measurement of HER2 expression in breast cancers: comparison with 'real-world' routine HER2 testing in a multicenter Collaborative Biomarker Study and correlation with overall survival.
The association between the 844ins68 polymorphism in the CBS gene and breast cancer.
[Connected bras for breast cancer detection in 2021: Analysis and perspectives].
Bronchiolitis
Observational study of newborn infant parasympathetic evaluation as a comfort system in awake patients admitted to a pediatric intensive care unit.
Bronchopneumonia
Mortality of the aged with chronic brain syndrome: further observations in a five-year study.
Candidiasis, Oral
Immunofluorescent studies on Candida albicans.
Carcinogenesis
Identification of novel cellular targets in biliary tract cancers using global gene expression technology.
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Production of hydrogen sulfide by the intestinal microbiota and epithelial cells and consequences for the colonic and rectal mucosa.
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Carcinoid Tumor
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma
An Anticancer Role of Hydrogen Sulfide in Human Gastric Cancer Cells.
Autocrine transforming growth factor alpha provides a growth advantage to malignant cells by facilitating re-entry into the cell cycle from suboptimal growth states.
Autocrine transforming growth factor-beta (TGF beta) modulates the 120 kD and 105 kD retinoblastoma (RB) protein species in CBS colon carcinoma cells as revealed by an anti-sense TGF beta 1 expression vector.
Autocrine transforming growth factor-beta 1 and beta 2 expression is increased by cell crowding and quiescence in colon carcinoma cells.
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Calcium sensing receptor in human colon carcinoma: interaction with Ca(2+) and 1,25-dihydroxyvitamin D(3).
Cell mediated cytotoxicity of human colon carcinoma cells by a monoclonal antibody (R4) recognizing the carcinoembryonic antigen (CEA) and CEA-related molecules.
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Computerized bone scan. A potentially useful technique to measure response in prostatic carcinoma.
Core biopsies of renal tumors: a study on diagnostic accuracy, interobserver, and intraobserver variability.
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Effects of potential calcium sensing receptor inducers on promoting chemosensitivity of human colon carcinoma cells.
Evidence for autocrine growth stimulation of cultured colon tumor cells by a gastrin/cholecystokinin-like peptide.
Expression of TGFalpha autocrine activity in human colon carcinoma CBS cells is autoregulated and independent of exogenous epidermal growth factor.
Identification of endogenous inhibitory growth factors from a human colon carcinoma cell line.
Indirect immunofluorescence studies of proliferating cell nuclear antigen in nucleoli of human tumor and normal tissues.
Induction of calcium sensing receptor in human colon cancer cells by calcium, vitamin D and aquamin: Promotion of a more differentiated, less malignant and indolent phenotype.
Inhibition of CRIPTO expression and tumorigenicity in human colon cancer cells by antisense RNA and oligodeoxynucleotides.
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Isolation and characterization of calcium sensing receptor null cells: a highly malignant and drug resistant phenotype of colon cancer.
Macrophage colony-stimulating factor enhancement of antibody-dependent cellular cytotoxicity against human colon carcinoma cells.
Methyl group metabolism gene polymorphisms and susceptibility to prostatic carcinoma.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
Regulation of E-cadherin and beta-catenin by Ca2+ in colon carcinoma is dependent on calcium-sensing receptor expression and function.
Repression of autocrine transforming growth factor beta 1 and beta 2 in quiescent CBS colon carcinoma cells leads to progression of tumorigenic properties.
Switch of transforming growth factor beta function from tumor suppression to stimulation in adenomatous polyposis coli (APC) knocked-down human colon carcinoma cells.
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
Transduction and expression of the human carcinoembryonic antigen gene in a murine colon carcinoma cell line.
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Ductal
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Folate Receptor Alpha Immunohistochemistry in Cytology Specimens of Metastatic Breast Carcinoma.
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Carcinoma, Embryonal
Effects of cannabinoids and related fatty acids upon the viability of P19 embryonal carcinoma cells.
Carcinoma, Hepatocellular
A pharmacological probe identifies cystathionine ?-synthase as a new negative regulator for ferroptosis.
Antioxidant activity of tartary (Fagopyrum tataricum (L.) Gaertn.) and common (Fagopyrum esculentum moench) buckwheat sprouts.
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Exogenous hydrogen sulfide exerts proliferation/anti-apoptosis/angiogenesis/migration effects via amplifying the activation of NF-?B pathway in PLC/PRF/5 hepatoma cells.
Expression of cystathionine beta-synthase is downregulated in hepatocellular carcinoma and associated with poor prognosis.
Hepatic Methionine Homeostasis Is Conserved in C57BL/6N Mice on High-Fat Diet Despite Major Changes in Hepatic One-Carbon Metabolism.
Hormonal regulation of cystathionine beta-synthase expression in liver.
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma.
Role of the cystathionine ?-synthase/H2S system in liver cancer cells and the inhibitory effect of quinolone-indolone conjugate QIC2 on the system.
S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity.
The Sulfur Metabolite Lanthionine: Evidence for a Role as a Novel Uremic Toxin.
Carcinoma, Intraductal, Noninfiltrating
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Carcinoma, Large Cell
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma, Neuroendocrine
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma, Non-Small-Cell Lung
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
Carcinoma, Papillary
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Utility of cell blocks in the diagnosis of thyroid aspirates.
Carcinoma, Renal Cell
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Core biopsies of renal tumors: a study on diagnostic accuracy, interobserver, and intraobserver variability.
Carcinoma, Small Cell
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Squamous Cell
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Transitional Cell
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Cardiomegaly
Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.
Cardiomyopathy, Hypertrophic
CBS domains: structure, function, and pathology in human proteins.
Cardiovascular Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.
Association of Methylenetetrahydrofolate Reductase C677T and Cystathionine β-Synthase Polymorphisms in Cardiovascular Disease in the Algerian Population.
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Hydrogen sulfide generation in mammals: the molecular biology of cystathionine-?- synthase (CBS) and cystathionine-?-lyase (CSE).
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Impaired homocysteine metabolism and atherothrombotic disease.
Inactivation of cystathionine beta-synthase with peroxynitrite.
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Novel risk factors for vascular disease: the homocysteine hypothesis of cardiovascular disease.
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
Variations in the transcriptome of Alzheimer's disease reveal molecular networks involved in cardiovascular diseases.
Carotid Artery Diseases
Carotid bifurcation position and branching angle in patients with atherosclerotic carotid disease.
Carotid Artery, Internal, Dissection
Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency.
Cataract
Anterior capsule phimosis and capsular block syndrome in a patient with Steinert myotonic dystrophy: a case report.
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Capsular block syndrome after cataract surgery: clinical analysis and classification.
Capsular block syndrome associated with femtosecond laser-assisted cataract surgery.
Early postoperative capsular block syndrome.
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Intraoperative capsular block syndrome masquerading as expulsive hemorrhage.
Late postoperative capsular bag distension syndrome.
The safety and efficacy of phaco-sleeve irrigation-assisted hydrodissection during femtosecond laser-assisted cataract surgery.
Celiac Disease
Immunoglobulin G responses to Malassezia pachydermatis in healthy dogs and dogs with Malassezia dermatitis.
Cerebral Cortical Thinning
Gray and white matter structural changes in corticobasal syndrome.
Integrated 18F-T807 Tau PET, Structural MRI, and Plasma Tau in Tauopathy Neurodegenerative Disorders.
Cerebral Infarction
The values of AHCY and CBS promoter methylation on the diagnosis of cerebral infarction in Chinese Han population.
Cerebrovascular Disorders
Hyperhomocysteinemia in movement disorders: Current evidence and hypotheses.
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
[Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases]
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Charles Bonnet Syndrome
Charles Bonnet syndrome and visual acuity--the involvement of dynamic or acute sensory deprivation.
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
The prevalence and clinical characteristics of Charles Bonnet syndrome in Chinese patients.
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Cholangiocarcinoma
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Cholangitis
[The therapeutic strategy in calculosis of the main biliary tract]
Cholera
Evaluation of community based surveillance in the Rohingya refugee camps in Cox's Bazar, Bangladesh, 2019.
Cholestasis
Beneficial effect of Calculus Bovis Sativus on 17?-ethynylestradiol-induced cholestasis in the rat.
Calculus Bovis Sativus Improves Bile Acid Homeostasis via Farnesoid X Receptor-Mediated Signaling in Rats With Estrogen-Induced Cholestasis.
Calculus Bovis Sativus up-regulates hepatic protein 2 (Mrp2) and Mrp4 in 17?-ethynylestradiol-induced cholestasis via a regulatory effect on ER signaling.
Cholestasis, Intrahepatic
Upregulation of PDZK1 by Calculus Bovis Sativus May Play an Important Role in Restoring Biliary Transport Function in Intrahepatic Cholestasis.
Chromoblastomycosis
Draft Genome Sequence of Fonsecaea monophora Strain CBS 269.37, an Agent of Human Chromoblastomycosis.
Draft Genome Sequence of Fonsecaea nubica Strain CBS 269.64, Causative Agent of Human Chromoblastomycosis.
Cleft Lip
A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate.
CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
Cleft Palate
CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
Colitis
Performance of behavioral assays: the Rat Grimace Scale, burrowing activity and a composite behavior score to identify visceral pain in an acute and chronic colitis model.
Therapeutic effect of colloid bismuth subcitrate in experimental colitis in the rat.
Therapeutic role for bismuth compounds in TNBS-induced colitis in the rat.
Colitis, Ulcerative
Protective Effect of Calculus Bovis Sativus on Dextran Sulphate Sodium-Induced Ulcerative Colitis in Mice.
Colonic Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Aminooxyacetic acid (AOAA) sensitizes colon cancer cells to oxaliplatin via exaggerating apoptosis induced by ROS.
Antitumor effect of sikokianin C, a selective cystathionine ?-synthase inhibitor, against human colon cancer in vitro and in vivo.
Butyrate stimulated H2S production in colon cancer cell.
Cystathionine-beta-synthase inhibition for colon cancer: Enhancement of the efficacy of aminooxyacetic acid via the prodrug approach.
Effect of S-adenosyl-l-methionine (SAM), an allosteric activator of cystathionine-?-synthase (CBS) on colorectal cancer cell proliferation and bioenergetics in vitro.
Efficacy of Novel Aminooxyacetic Acid Prodrugs in Colon Cancer Models: Towards Clinical Translation of the Cystathionine ?-Synthase Inhibition Concept.
Heterogeneity of receptor function in colon carcinoma cells determined by cross-talk between type I insulin-like growth factor receptor and epidermal growth factor receptor.
Inhibition of CRIPTO expression and tumorigenicity in human colon cancer cells by antisense RNA and oligodeoxynucleotides.
Invasion of extracellular matrix by cultured colon cancer cells: dependence on urokinase receptor display.
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Methotrexate induced differentiation in colon cancer cells is primarily due to purine deprivation.
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part I. Biochemical and Physiological Mechanisms.
Screening of a composite library of clinically used drugs and well-characterized pharmacological compounds for cystathionine ?-synthase inhibition identifies benserazide as a drug potentially suitable for repurposing for the experimental therapy of colon cancer.
The gastrointestinal tract - a central organ of cannabinoid signaling in health and disease.
The role of transforming growth factor-beta in suppression of hepatic metastasis from colon cancer.
Transforming growth factor-ß suppresses metastasis in a subset of human colon carcinoma cells.
Tumor-derived hydrogen sulfide, produced by cystathionine-?-synthase, stimulates bioenergetics, cell proliferation, and angiogenesis in colon cancer.
Colonic Pseudo-Obstruction
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
Colorectal Neoplasms
Aminooxyacetic acid (AOAA) sensitizes colon cancer cells to oxaliplatin via exaggerating apoptosis induced by ROS.
B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).
Cannabinoid receptor-independent cytotoxic effects of cannabinoids in human colorectal carcinoma cells: synergism with 5-fluorouracil.
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part II. Pathophysiological and Therapeutic Aspects.
Upregulation of Cystathionine-?-synthase in Colonic Epithelia Reprograms Metabolism and Promotes Carcinogenesis.
[Correlation of methylation of CpG island in cystathionine beta synthase promoter and clinicopathological features in colorectal cancer].
Coma
Coma blisters sans coma.
Communicable Diseases
Investigating potential associations between chronic exposure to polychlorinated biphenyls and infectious disease mortality in harbour porpoises from England and Wales.
Community-Acquired Infections
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Cone-Rod Dystrophies
Charles Bonnet syndrome in children.
Congenital Abnormalities
Cannabinoids Exacerbate Alcohol Teratogenesis by a CB1-Hedgehog Interaction.
[From gene to disease; from homocysteine to hyperhomocysteinemia]
Corneal Injuries
Blood derived treatment from two allogeneic sources for severe dry eye associated to keratopathy: a multicentre randomised cross over clinical trial.
Coronary Artery Disease
Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population.
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Genetic variation of the methylenetetrahydrofolate reductase and cystathionine beta-synthase genes in Korean patients with coronary artery disease and a new polymorphism in intron 7.
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population.
Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
Relationship between total plasma homocysteine, polymorphisms of homocysteine metabolism related enzymes, risk factors and coronary artery disease in the Australian hospital-based population.
Coronary Disease
Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
Hyperhomocysteinemia: an independent risk factor for vascular disease.
Coronary Stenosis
[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population]
Corticobasal Degeneration
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease.
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome.
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Corticobasal syndrome: Five new things.
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Is the pathology of corticobasal syndrome predictable in life?
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Parkinsonism in adult-onset Rasmussens's encephalitis: a clinical picture presenting as corticobasal syndrome.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Serial 18F-FP-CIT and FDG PET in Fulminant Corticobasal Syndrome.
Sporadic corticobasal syndrome due to FTLD-TDP.
Synaptic Loss in Primary Tauopathies Revealed by [11 C]UCB-J Positron Emission Tomography.
Tau immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.
The corticobasal syndrome-Alzheimer's disease conundrum.
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
COVID-19
Community-based surveillance in internally displaced people's camps and urban settings during a complex emergency in Yemen in 2020.
Exacerbation of visual hallucinations in Charles Bonnet syndrome due to the social implications of COVID-19.
Creutzfeldt-Jakob Syndrome
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
[Corticobasal syndrome: recent advances and future directions].
[Pathology of corticobasal syndrome].
[The genetics of corticobasal syndrome].
cystathionine beta-synthase deficiency
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency.
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: Possible implications for cardiovascular outcomes.
Amplification refractory mutation system to identify mutations in cystathionine beta-synthase deficiency.
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
Analysis of the Qatari R336C cystathionine ?-synthase protein in mice.
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
Aspects of treatment of homocystinuria: an illustrative case report.
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
B vitamins and homocysteine in cardiovascular disease and aging.
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency.
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ?-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene.
Birth prevalence of homocystinuria.
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Cerebral edema associated with betaine treatment in classical homocystinuria.
Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment.
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Classical Homocystinuria in a Juvenile Patient.
Classical homocystinuria, is it safe to exercise?
Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
Classical homocystinuria: vascular risk and its prevention.
Clinical and laboratory features of homocystinuria.
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings.
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Cystathionine ?-synthase deficiency: Of mice and men.
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Cystathionine ?-synthase-deficient mice thrive on a low-methionine diet.
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Cystathionine beta synthase modulates senescence of human endothelial cells.
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
Cystathionine beta-synthase deficiency causes fat loss in mice.
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy.
Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells.
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient.
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Cysteine biosynthesis in Saccharomyces cerevisiae: mutation that confers cystathionine beta-synthase deficiency.
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Determination of l-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine ?-synthase deficiency.
Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Direct monitoring of albumin lysine-525 N-homocysteinylation in human serum by liquid chromatography/mass spectrometry.
Disorders of homocysteine metabolism.
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Dystonia in homocystinuria.
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Effect of cadmium administration in hyperhomocysteinemic mice due to cystathionine beta synthase deficiency.
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Effect of homocysteine and homocystine on platelet and vascular arachidonic acid metabolism.
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency.
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients.
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Feasibility of domino liver transplantation from hyperhomocsyteinemia.
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.
Gastrointestinal involvement in homocystinuria.
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia.
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
Glycine N -methyltransferase deficiency: a new patient with a novel mutation.
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
Hepatocyte-specific Dyrk1a gene transfer rescues plasma apolipoprotein A-I levels and aortic Akt/GSK3 pathways in hyperhomocysteinemic mice.
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
High homocysteine induces betaine depletion.
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Homocysteinaemia after methionine overload as a coronary artery disease risk factor: importance of age and homocysteine levels.
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
Homocysteine thiolactone disposal by human arterial endothelial cells and serum in vitro.
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
Homocysteine-lowering treatment: an overview.
Homocysteine: overview of biochemistry, molecular biology, and role in disease processes.
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
Homocystinuria due to cystathionine beta synthase deficiency.
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Human cystathionine beta-synthase is a target for sumoylation.
Huntingtin interacts with cystathionine beta-synthase.
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure?
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
Hyperhomocysteinemia: an independent risk factor for vascular disease.
Hyperhomocysteinemia: an instigating factor for periodontal disease.
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
In the cystathionine beta-synthase knockout mouse, elevations in total plasma homocysteine increase tissue S-adenosylhomocysteine, but responses of S-adenosylmethionine and DNA methylation are tissue specific.
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon.
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine.
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Lack of global epigenetic methylation defects in CBS deficient mice.
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
Mechanisms of thrombogenesis and accelerated atherogenesis in homocysteinaemia.
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Methylgenesis from betaine in cystathionine-beta-synthase deficiency.
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine ?-synthase (CBS) reveal effects on CBS activity but not stability.
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Newborn screening for homocystinuria.
Newborn screening for homocystinuria: Irish and world experience.
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Newborn screening for homocystinurias: recent recommendations versus current practice.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Novel cystathionine ?-synthase gene mutations in a Filipino patient with classic homocystinuria.
Novel risk factors for vascular disease: the homocysteine hypothesis of cardiovascular disease.
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
One-carbon cycle alterations induced by Dyrk1a dosage.
Oxidative stress and platelet activation in homozygous homocystinuria.
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
Pharmacological activation and genetic manipulation of cystathionine beta-synthase alter circulating levels of homocysteine and hydrogen sulfide in mice.
Plasma homocysteine and methionine tolerance in early-onset vascular disease.
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency.
Postoperative thromboemboli in cystathionine beta-synthase deficiency.
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency.
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Protein arginine hypomethylation in a mouse model of cystathionine ?-synthase deficiency.
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Recent advances in the mechanism of pyridoxine-responsive disorders.
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Reduction of false negative results in screening of newborns for homocystinuria.
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Screening for serum total homocysteine in newborn children.
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ?-synthase p.R336C.
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
The case for mild hyperhomocysteinaemia as a risk factor.
The effect of dietary modulation of sulfur amino acids on cystathionine ? synthase-deficient mice.
The Effect of in Vitro Homocystinuria on the Suckling Rat Hippocampal Acetylcholinesterase.
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
The natural history of vascular disease in homocystinuria and the effects of treatment.
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemia.
Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings.
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Treatment of inherited homocystinurias.
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
[A case of young adult presenting with cerebral infarction caused by homocystinuria]
[Can blood homocysteine explain the family history of vascular diseases?]
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]
[Cystathionine betasynthase and MTHFR deficiencies in adults]
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
[Homocystinuria in adulthood]
[Homocystinuria with generalized chorea and other movement disorders: a case report]
[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]
[Inherited metabolic disorders of the transsulfuration pathway]
[Plasma homocysteine, a risk factor for premature vascular disease. Plasma levels in healthy persons; during pathologic conditions and drug therapy]
Cystic Fibrosis
Growth and protease secretion of Scedosporium aurantiacum under conditions of hypoxia.
Mycoserological study of the treatment of paediatric cystic fibrosis patients with Saccharomyces boulardii (Saccharomyces cerevisiae Hansen CBS 5926).
Cysts
Feasibility of a hybrid elastographic-microfluidic device to rapidly process and assess pancreatic cancer biopsies for pathologists.
Morphology and ultrastructure of the germarium in panoistic ovarioles of a basal "apterygotous" insect, Thermobia domestica.
Dandruff
Complete Genome Sequence of Malassezia restricta CBS 7877, an Opportunist Pathogen Involved in Dandruff and Seborrheic Dermatitis.
Dehydration
Mixtures of semisynthetic species of cerebroside sulfate with dipalmitoyl phosphatidylcholine. Thermotropic phase behavior and permeability.
Trans interactions between galactosylceramide and cerebroside sulfate across apposed bilayers.
Delirium
Charles Bonnet syndrome.
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
Treatment of typical Charles Bonnet syndrome with donepezil.
Dementia
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
Accessing community dementia care services in Ireland: Emotional barriers for caregivers.
Atypical parkinsonian syndromes in a North African tertiary referral center.
Charles Bonnet syndrome and cognitive impairment: a systematic review.
Charles bonnet syndrome: treating nonpsychiatric hallucinations.
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Clinical phenomenology and mortality in charles bonnet syndrome.
Cognitive impairment and Charles Bonnet syndrome: a prospective study.
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Diagnoses of corticobasal syndrome and corticobasal degeneration.
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model.
Factors that predict diagnostic stability in neurodegenerative dementia.
Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.
FDG-PET patterns associated with underlying pathology in corticobasal syndrome.
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Mental illness and physical health in older people.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
Mortality and causes of death in the aged with organic brain symptoms.
Neural correlates of caregiver burden in cortical basal syndrome and frontotemporal dementia.
Neuropsychiatry of corticobasal degeneration and progressive supranuclear palsy.
Olfactory function in corticobasal syndrome and frontotemporal dementia.
Plasma amino acids and neopterin in healthy persons with Down's syndrome.
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Post mortem cerebrospinal fluid ?-synuclein levels are raised in multiple system atrophy and distinguish this from the other ?-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies.
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
The Cornell-Brown Scale for Quality of Life in Dementia: Spanish Adaptation and Validation.
The influence of 'cognitive busyness' on causal attributions of challenging behaviour in dementia: A preliminary experimental study.
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
Treatment of typical Charles Bonnet syndrome with donepezil.
What associates Charles Bonnet syndrome with age-related macular degeneration?
[Criteria for the diagnosis of corticobasal degeneration].
[Neuroimaging in corticobasal syndrome].
[Psychiatric, psychological comorbidities of typical and atypical Charles-Bonnet syndrome].
[The Charles Bonnet syndrome and dementia]
[The Charles Bonnet syndrome: a case report and a brief review]
Dementia, Vascular
Involvement of Endothelin-1, H2S and Nrf2 in Beneficial Effects of Remote Ischemic Preconditioning in Global Cerebral Ischemia-Induced Vascular Dementia in Mice.
Demyelinating Diseases
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Persistent multifocal pseudo-conduction blocks in vasculitic neuropathy without antiganglioside antibodies.
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Dengue
Evaluation of community based surveillance in the Rohingya refugee camps in Cox's Bazar, Bangladesh, 2019.
Dental Caries
Evaluation and Comparison of Caries Excavation Efficacy of Three Different Burs: A Micro-computed Tomographic-assisted Study.
Dermatitis
Immunoglobulin G responses to Malassezia pachydermatis in healthy dogs and dogs with Malassezia dermatitis.
Dermatitis, Seborrheic
Complete Genome Sequence of Malassezia restricta CBS 7877, an Opportunist Pathogen Involved in Dandruff and Seborrheic Dermatitis.
Diabetes Mellitus
Homocysteine metabolism in diabetes.
Serum levels of cancer biomarkers in diabetic and non-diabetic proteinuric patients: a preliminary study.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Diabetic Nephropathies
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
Diabetic Neuropathies
Possible involvement of peripheral TRP channels in the hydrogen sulfide-induced hyperalgesia in diabetic rats.
Diabetic Retinopathy
Faulty homocysteine recycling in diabetic retinopathy.
Therapeutic Effects of Rivastigmine and Alfa-Lipoic Acid Combination in the Charles Bonnet Syndrome: Electroencephalography Correlates.
Down Syndrome
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Alterations in the Serotonin and Dopamine Pathways by Cystathionine Beta Synthase Overexpression in Murine Brain.
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.
Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.
Commentary on: Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.
Cystathionine beta synthase: gene dosage effect in trisomy 21.
Cystathionine-?-Synthase: Molecular Regulation and Pharmacological Inhibition.
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
Endogenous production of hydrogen sulfide in mammals.
Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.
Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
High frequency of the 844ins68 cystathionine-beta-synthase gene variant in Down syndrome children with acute myeloid leukemia.
Homocysteine metabolism in children with Down syndrome: in vitro modulation.
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome.
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.
Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil.
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Mental retardation in Down syndrome: a hydrogen sulfide hpothesis.
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.
Overproduction of H2S, generated by CBS, inhibits mitochondrial Complex IV and suppresses oxidative phosphorylation in Down syndrome.
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China.
Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage.
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil.
Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts.
Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.
Slowed synthesis of DNA and methionine is a pathogenetic mechanism common to dementia in Down's syndrome, AIDS and Alzheimer's disease?
Synergistic regulation of human cystathionine-beta-synthase-1b promoter by transcription factors NF-YA isoforms and Sp1.
The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome.
Transcriptional regulation of cell-specific expression of the human cystathionine beta -synthase gene by differential binding of Sp1/Sp3 to the -1b promoter.
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Transcriptional regulation of the human cystathionine beta-synthase -1b basal promoter: synergistic transactivation by transcription factors NF-Y and Sp1/Sp3.
[H2S, a new neuromodulator]
Drug Resistant Epilepsy
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Dry Eye Syndromes
Efficacy of Standardized and Quality-Controlled Cord Blood Serum Eye Drop Therapy in the Healing of Severe Corneal Epithelial Damage in Dry Eye.
In Vivo Confocal Microscopy Automated Morphometric Analysis of Corneal Subbasal Nerve Plexus in Patients With Dry Eye Treated With Different Sources of Homologous Serum Eye Drops.
Duodenal Ulcer
A comparative study of colloidal bismuth subcitrate and cimetidine on the healing and recurrence of duodenal ulcer.
Adjuvant antibiotic therapy in duodenal ulcers treated with colloidal bismuth subcitrate.
Clinical indications and efficacy of colloidal bismuth subcitrate.
Colloidal bismuth pectin: an alternative to bismuth subcitrate for the treatment of Helicobacter pylori--positive duodenal ulcer.
Colloidal bismuth subcitrate and two different dosages of cimetidine in the treatment of resistant duodenal ulcer. Preliminary results.
Colloidal bismuth subcitrate as coated tablets: four times versus twice daily dosage in duodenal ulcer.
Colloidal bismuth subcitrate in peptic ulcer--a review.
Double-blind controlled trial with colloidal bismuth subcitrate in the treatment of symptomatic duodenal ulcers with special references to blood and urine bismuth levels.
Effect of two different doses of metronidazole and tetracycline in bismuth triple therapy on eradication of Helicobacter pylori and its resistant strains.
Impact of colloidal bismuth subnitrate in the eradication rates of Helicobacter pylori infection-associated duodenal ulcer using a short treatment regimen with omeprazole and clarithromycin: a randomized study.
Mucosa protectives: sucralfate and colloidal bismuth subcitrate in peptic ulcer disease.
Studies on the gastroprotective and ulcer-healing effects of colloidal bismuth subcitrate.
The influence of colloidal bismuth subcitrate on duodenal ulcer relapse.
The role of colloidal bismuth subcitrate in the short-term treatment of duodenal ulcer.
Treatment of Campylobacter pylori gastritis: a pilot study using pirenzepine dihydrochloride (Gastrozepin) and three formulations of colloidal bismuth subcitrate (De-Nol).
[Therapy of peptic ulcer and chronic gastritis with bismuth salts]
Duodenitis
Clinical indications and efficacy of colloidal bismuth subcitrate.
Dysarthria
Metabolic and Structural Signatures of Speech and Language Impairment in Corticobasal Syndrome: A Multimodal PET/MRI Study.
Dyscalculia
The Progressive Acalculia Presentation of Parietal Variant Alzheimer's Disease.
Dyskinesias
Cortical Activation During Levitation and Tentacular Movements of Corticobasal Syndrome.
Dyslexia
Measuring disease progression in corticobasal syndrome.
Dyslipidemias
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine ?-synthase-deficient rabbit generated using CRISPR/Cas9.
Modeling premature occurrence of acute coronary syndrome with atherogenic and thrombogenic risk factors and gene markers in extended families.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Dystonia
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Botulinum toxin for the treatment of dystonia and pain in corticobasal syndrome.
Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.
Dystonia in homocystinuria.
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
Symmetric corticobasal degeneration (S-CBD).
Ectopia Lentis
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Reduction of false negative results in screening of newborns for homocystinuria.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Embolism
Endoscopic Muscle Repair of Right Internal Carotid Artery Rupture Following Endovascular Procedure.
Endometrial Neoplasms
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy.
Endometriosis
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
Endotoxemia
Effect of endotoxemia in mice genetically deficient in cystathionine-?-lyase, cystathionine-?-synthase or 3-mercaptopyruvate sulfurtransferase.
Inhibition of endogenous hydrogen sulfide formation reduces the organ injury caused by endotoxemia.
Enterocolitis
Mycoserological study of the treatment of paediatric cystic fibrosis patients with Saccharomyces boulardii (Saccharomyces cerevisiae Hansen CBS 5926).
Epilepsy
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
Charles Bonnet syndrome in hemianopia, following antero-mesial temporal lobectomy for drug-resistant epilepsy.
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
What associates Charles Bonnet syndrome with age-related macular degeneration?
Epilepsy, Temporal Lobe
Charles Bonnet syndrome in hemianopia, following antero-mesial temporal lobectomy for drug-resistant epilepsy.
Erectile Dysfunction
[Expressions of CSE and CBS in the corpus cavernosum of spontaneous hypertensive rats].
[Expressions of cystathionine-beta-synthase and cystathionine-gamma-lyase in the corpus cavernosum smooth muscle of castrated rats].
Erythema
Coma blisters sans coma.
Esophageal Achalasia
Reduction of hydrogen sulfide synthesis enzymes in the esophagus of patients with achalasia: effect of hydrogen sulfide in achalasia.
Esophageal Neoplasms
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Esophageal Squamous Cell Carcinoma
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Esophagitis
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
Essential Hypertension
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Eye Diseases
FDG-PET scanning shows distributed changes in cortical activity associated with visual hallucinations in eye disease.
The distribution of cystathionine beta-synthase (CBS) in the eye: Implication of the presence of a trans-sulfuration pathway for oxidative stress defense.
Eye Injuries
GFAP expression in the optic nerve and increased H2S generation in the integration centers of the rainbow trout (Oncorhynchus mykiss) brain after unilateral eye injury.
Fanconi Anemia
Molecular Portrait of Metastasis-Competent Circulating Tumor Cells in Colon Cancer Reveals the Crucial Role of Genes Regulating Energy Metabolism and DNA Repair.
Fasciculation
Central motor conduction time in patients with multifocal motor conduction block.
Fatty Liver
Choline deprivation induces hyperhomocysteinemia in rats fed low methionine diets.
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Exendin-4 regulates redox homeostasis in rats fed with high-fat diet.
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria.
Frontotemporal Dementia
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Measuring disease progression in corticobasal syndrome.
Neuropathological background of phenotypical variability in frontotemporal dementia.
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Progranulin Peripheral Levels as a Screening Tool for the Identification of Subjects with Progranulin Mutations in a Portuguese Cohort.
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
Sporadic corticobasal syndrome due to FTLD-TDP.
Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation.
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
[The genetics of corticobasal syndrome].
Frontotemporal Lobar Degeneration
A Mutation in the 5'-UTR of GRN Gene Associated with Frontotemporal Lobar Degeneration: Phenotypic Variability and Possible Pathogenetic Mechanisms.
A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.
Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.
Corticobasal syndrome: Five new things.
Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study.
Mutation analysis of C9orf72 in patients with corticobasal syndrome.
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Sporadic corticobasal syndrome due to FTLD-TDP.
[Corticobasal syndrome: recent advances and future directions].
[Neuroimaging in corticobasal syndrome].
[Pathology of corticobasal syndrome].
[The genetics of corticobasal syndrome].
Gait Disorders, Neurologic
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Gallstones
[The therapeutic strategy in calculosis of the main biliary tract]
Gastritis
Adjuvant antibiotic therapy in duodenal ulcers treated with colloidal bismuth subcitrate.
Antibacterial action of bismuth in relation to Campylobacter pyloridis colonization and gastritis.
Bismuth: effects on gastritis and peptic ulcer.
Campylobacter associated gastritis in patients with non-ulcer dyspepsia: a double blind placebo controlled trial with colloidal bismuth subcitrate.
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Gastric antral erosions and Helicobacter pylori infection in cirrhotic patients: a pilot controlled study of oral bismuth vs ranitidine therapy.
Healing of chronic antral gastritis: effect of sucralfate and colloidal bismuth subcitrate.
Review of the modes of action of colloidal bismuth subcitrate.
The mode of action of colloidal bismuth subcitrate.
The role of colloidal bismuth subcitrate in gastric ulcer and gastritis.
Gastroesophageal Reflux
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
Gastrointestinal Diseases
Influence of Saccharomyces boulardii CNCM I-745on the gut-associated immune system.
Gastrointestinal Neoplasms
Frequent epigenetic silencing of the folate-metabolising gene cystathionine-Beta-synthase in gastrointestinal cancer.
Genetic Diseases, Inborn
A CBS domain-containing pyrophosphatase of Moorella thermoacetica is regulated by adenine nucleotides.
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
Bateman domains and adenosine derivatives form a binding contract.
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
CBS domains: structure, function, and pathology in human proteins.
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
Crystallization and preliminary crystallographic analysis of merohedrally twinned crystals of MJ0729, a CBS-domain protein from Methanococcus jannaschii.
Enzymes Regulated via Cystathionine ?-Synthase Domains.
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Measurement of homocyst(e)ine in the prediction of arteriosclerosis.
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Nucleotide-induced conformational transitions in the CBS domain protein MJ0729 of Methanocaldococcus jannaschii.
Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
Structural basis for the Mg2+ recognition and regulation of the CorC Mg2+ transporter.
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Synergistic regulation of human cystathionine-beta-synthase-1b promoter by transcription factors NF-YA isoforms and Sp1.
The CBS Domain Protein MJ0729 of Methanocaldococcus jannaschii Is a Thermostable Protein with a pH-Dependent Self-Oligomerization (dagger).
The CBS domain: a protein module with an emerging prominent role in regulation.
Transcriptional regulation of cell-specific expression of the human cystathionine beta -synthase gene by differential binding of Sp1/Sp3 to the -1b promoter.
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Geographic Atrophy
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Gingivitis
Production of endogenous hydrogen sulfide in human gingival tissue.
Gitelman Syndrome
A Spanish Founder Mutation in the Chloride Channel Gene, CLCNKB, as a Cause of Atypical Bartter Syndrome in Adult Age.
Glaucoma
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Charles bonnet syndrome: treating nonpsychiatric hallucinations.
Early postoperative capsular block syndrome.
Elastin modulation and modification by homocysteine: a key factor in the pathogenesis of Pseudoexfoliation syndrome?
Prevalence of Charles Bonnet syndrome in patients with glaucoma: a systematic review with meta-analyses.
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Relevant variations and neuroprotecive effect of hydrogen sulfide in a rat glaucoma model.
Three cases of Charles Bonnet Syndrome in patients with advanced glaucomatous visual field loss but preserved visual acuity.
Glaucoma, Angle-Closure
Early postoperative capsular block syndrome.
Glioblastoma
Hypoxia-inducible factors regulate human and rat cystathionine ?-synthase gene expression.
On the effects of CP 55-940 and other cannabinoid receptor agonists in C6 and U373 cell lines.
Glioma
Decreased Expression of Cystathionine ?-Synthase Promotes Glioma Tumorigenesis.
Glucose Intolerance
Exploring the Mediators that Promote Carotid Body Dysfunction in Type 2 Diabetes and Obesity Related Syndromes.
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Granuloma
Comparison of plasma-thrombin, HistoGel, and CellGel cell block preparation methods with paired ThinPrep slides in the setting of mediastinal granulomatous disease.
Local administration of WIN 55,212-2 reduces chronic granuloma-associated angiogenesis in rat by inhibiting NF-kappaB activation.
Hallucinations
Acute Charles Bonnet Syndrome following Hughes procedure.
Acute psychosis in an adolescent with undiagnosed homocystinuria.
An examination of the relationship between low vision and Charles Bonnet syndrome.
An overview of psychological and social factors in Charles Bonnet syndrome.
Atypical Charles Bonnet hallucinations: an elf in the woodshed, a spirit of evil, and the cowboy malefactors.
Ave Maria and Visions of Children: Atypical Charles Bonnet Syndrome or Two Coexisting Deafferentation Phenomena?
Cerebellar correlates of visual hallucinations in Parkinson's disease and Charles Bonnet Syndrome.
Charles Bonnet Syndrome as Another Cause of Visual Hallucinations.
Charles Bonnet syndrome associated with a first attack of multiple sclerosis.
Charles bonnet syndrome associated with age-related macular degeneration.
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
Charles Bonnet syndrome in children.
Charles Bonnet syndrome in leprosy; prevalence and clinical characteristics.
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Charles Bonnet syndrome with auditory hallucinations: a diagnostic dilemma.
Charles Bonnet syndrome.
Charles Bonnet syndrome: evidence for a generative model in the cortex?
Charles bonnet syndrome: treating nonpsychiatric hallucinations.
Charles Bonnet syndrome: two case reports and review of the literature.
Cognitive impairment and Charles Bonnet syndrome: a prospective study.
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Differentiating between visual hallucination-free dementia with Lewy bodies and corticobasal syndrome on the basis of neuropsychology and perfusion single-photon emission computed tomography.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Epileptic mechanisms in Charles Bonnet syndrome.
Evaluation of the Clinical Features, Management, and Prognoses of Patients With Charles Bonnet Syndrome.
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
FDG-PET scanning shows distributed changes in cortical activity associated with visual hallucinations in eye disease.
Frightening visual hallucinations: atypical presentation of Charles Bonnet syndrome triggered by the Black Saturday bushfires.
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hallucinations in visually impaired individuals : An analysis of the National Comorbidity Survey Replication.
Hallucinatory experiences in visually impaired individuals: Charles Bonnet syndrome - implications for research and clinical practice.
High-Density EEG in a Charles Bonnet Syndrome Patient during and without Visual Hallucinations: A Case-Report Study.
Hypermetabolism in the left thalamus and right inferior temporal area on positron emission tomography-statistical parametric mapping (PET-SPM) in a patient with Charles Bonnet syndrome resolving after treatment with valproic acid.
Multimodal Hallucinations in a Visually Impaired Elderly Female: Is it a Variant of Charles Bonnet Syndrome?
Neuroimaging studies in patients with Charles Bonnet Syndrome.
Olanzapine therapy in hallucinatory visions related to Bonnet syndrome.
Power spectral density and coherence analysis of eye disease with and without visual hallucination.
Recognizing Charles Bonnet syndrome in the elderly.
Resting-state functional connectivity and cortical thickness characterization of a patient with Charles Bonnet syndrome.
Reversible Charles Bonnet syndrome secondary to upper lid ptosis.
Social and psychological characteristics of elderly visually handicapped patients with the Charles Bonnet Syndrome.
Steroid-responsive charles bonnet syndrome in temporal arteritis.
Stimulus-Driven Cortical Hyperexcitability in Individuals with Charles Bonnet Hallucinations.
The Charles Bonnet Syndrome: a Systematic Review of Diagnostic Criteria.
The curious case of an invisible dog: a patient with non-psychiatric visual hallucinations.
The elephant in the room: understanding the pathogenesis of Charles Bonnet syndrome.
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Therapeutic Effects of Rivastigmine and Alfa-Lipoic Acid Combination in the Charles Bonnet Syndrome: Electroencephalography Correlates.
Three cases of Charles Bonnet Syndrome in patients with advanced glaucomatous visual field loss but preserved visual acuity.
Treatment of typical Charles Bonnet syndrome with donepezil.
Vision rehabilitation and charles bonnet syndrome.
Visual hallucinations and Charles Bonnet syndrome after photodynamic therapy for age related macular degeneration.
Visual hallucinations in CBS: reply from the author.
Visual hallucinations in psychologically normal people: Charles Bonnet's syndrome.
What associates Charles Bonnet syndrome with age-related macular degeneration?
[Charles Bonnet syndrome]
[Charles Bonnet's Syndrome: Clinical Insights in a Fascinating Disease.]
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
[Psychiatric, psychological comorbidities of typical and atypical Charles-Bonnet syndrome].
Head and Neck Neoplasms
Carotid blowout syndrome: modern trends in management.
Computed Tomography Angiography findings can predict massive bleeding in head and neck tumours.
Embolization for Carotid Blowout in Head and Neck Cancer: Case Report of Five Patients.
Endovascular management of carotid blowout syndrome in patients with head and neck cancers.
Endovascular management of the carotid blowout syndrome: a single-center experience.
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
Patients with head and neck cancers and associated postirradiated carotid blowout syndrome: endovascular therapeutic methods and outcomes.
Polytetrafluoroethylene-covered nitinol stent graft for treatment of carotid artery blowout syndrome in head and neck cancer patients.
Prevention and early management of carotid blowout syndrome for patients receiving head and neck salvage boron neutron capture therapy (BNCT).
Risk factors and nomogram for predicting carotid blowout syndrome based on computed tomography angiography.
Rupture of carotid artery pseudoaneurysm in the modern era of definitive chemoradiation for head and neck cancer: Two case reports.
The use of a covered stent in carotid blowout syndrome.
Transcarotid Mechanical Thrombectomy for Embolic Intracranial Large Vessel Occlusion after Endovascular Deconstructice Embolization for Carotid Blowout Syndrome.
Heart Arrest
Analysis of functioning and efficiency of a code blue system in a tertiary care hospital.
Endovascular treatment of carotid blowout syndrome: who and how to treat.
Heart Defects, Congenital
A functional variant in the cystathionine ?-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population.
Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring.
Homocysteine concentrations and molecular analysis in patients with congenital heart defects.
Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families.
Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects.
Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease.
[A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine beta-synthase gene, and environmental factors]
[CBS gene variations and serum homocysteine level associated with congenital heart defects]
Heart Failure
Carotid baroreceptor stimulation suppresses ventricular fibrillation in canines with chronic heart failure.
Homocysteine, hydrogen sulfide (H2S) and NMDA-receptor in heart failure.
Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death.
Heart Neoplasms
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Heart Septal Defects, Atrial
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
Hematologic Diseases
Pros and Cons of the Cannabinoid System in Cancer: Focus on Hematological Malignancies.
Hemorrhagic Stroke
A diet rich in taurine, cysteine, folate, B12 and betaine may lessen risk for Alzheimer's disease by boosting brain synthesis of hydrogen sulfide.
Epileptic mechanisms in Charles Bonnet syndrome.
Hepatitis C
Development of the International Consortium for Blood Safety (ICBS) HCV panels.
HIV Infections
Characterization of carbosilane dendrimers as effective carriers of siRNA to HIV-infected lymphocytes.
Homocystinuria
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency.
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria.
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: Possible implications for cardiovascular outcomes.
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
Analysis of the Qatari R336C cystathionine ?-synthase protein in mice.
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
Aspects of treatment of homocystinuria: an illustrative case report.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
B vitamins and homocysteine in cardiovascular disease and aging.
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ?-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene.
Birth prevalence of homocystinuria.
Brain energy metabolism is compromised by the metabolites accumulating in homocystinuria.
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins.
Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model.
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Classical Homocystinuria in a Juvenile Patient.
Classical homocystinuria, is it safe to exercise?
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
Classical homocystinuria: vascular risk and its prevention.
Clinical and laboratory features of homocystinuria.
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings.
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
Correction of disease-causing CBS mutations in yeast.
Creatine prevents the imbalance of redox homeostasis caused by homocysteine in skeletal muscle of rats.
Crystal structure of cystathionine ?-synthase from honeybee Apis mellifera.
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
Cystathionine ?-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanogaster.
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Cystathionine ?-synthase deficiency: Of mice and men.
Cystathionine ?-Synthase in Physiology and Cancer.
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Cystathionine ?-synthase-deficient mice thrive on a low-methionine diet.
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Cystathionine beta synthase modulates senescence of human endothelial cells.
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
Cystathionine beta-synthase deficiency causes fat loss in mice.
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Cystathionine beta-synthase mutations in homocystinuria.
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death.
Cystathioninuria and homocystinuria.
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Determination of l-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine ?-synthase deficiency.
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Dystonia in homocystinuria.
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Effect of cadmium administration in hyperhomocysteinemic mice due to cystathionine beta synthase deficiency.
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria.
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Enzyme replacement with PEGylated cystathionine ?-synthase ameliorates homocystinuria in murine model.
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients.
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Fatal haemorrhagic infarct in an infant with homocystinuria.
Feasibility of domino liver transplantation from hyperhomocsyteinemia.
Folding and activity of mutant cystathionine ?-synthase depends on the position and nature of the purification tag: Characterization of the R266K CBS mutant.
Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.
Gastrointestinal involvement in homocystinuria.
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and raman spectroscopy.
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
High homocysteine induces betaine depletion.
High prevalence of a mutation in the cystathionine beta-synthase gene.
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Homocysteinaemia after methionine overload as a coronary artery disease risk factor: importance of age and homocysteine levels.
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
Homocysteine induces energy imbalance in rat skeletal muscle: Is creatine a protector?
Homocysteine metabolism in endothelial cells of a patient homozygous for cystathionine beta-synthase (CS) deficiency.
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
Homocysteine-lowering treatment: an overview.
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Homocystinuria and psychiatric disorder: a case report.
Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
Homocystinuria due to cystathionine beta synthase deficiency.
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.
Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Human cystathionine beta-synthase (CBS) contains two classes of binding sites for S-adenosyl-L-methionine (SAM): complex regulation of CBS activity and stability by SAM.
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Human cystathionine beta-synthase is a target for sumoylation.
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Huntingtin interacts with cystathionine beta-synthase.
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
Hyperhomocysteinemia: an independent risk factor for vascular disease.
Hyperhomocysteinemia: an instigating factor for periodontal disease.
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme.
Hypermethioninemia in Campania: Results from 10?years of newborn screening.
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA.
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
In vitro effect of homocysteine on some parameters of oxidative stress in rat hippocampus.
Inborn errors of metabolism causing homocysteinemia and related vascular involvement.
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria.
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Lack of global epigenetic methylation defects in CBS deficient mice.
Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: Decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.
Measurement of homocyst(e)ine in the prediction of arteriosclerosis.
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Molecular analysis of homocystinuria in Brazilian patients.
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population.
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine ?-synthase (CBS) reveal effects on CBS activity but not stability.
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
Newborn screening for homocystinuria.
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
Novel cystathionine ?-synthase gene mutations in a Filipino patient with classic homocystinuria.
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
Ocular manifestations in classic homocystinuria.
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.
One-carbon cycle alterations induced by Dyrk1a dosage.
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
Peripheral nerve involvement in classic homocystinuria: an unusual association.
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria.
Pharmacological activation and genetic manipulation of cystathionine beta-synthase alter circulating levels of homocysteine and hydrogen sulfide in mice.
Plasma homocysteine and methionine tolerance in early-onset vascular disease.
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency.
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency.
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Protein arginine hypomethylation in a mouse model of cystathionine ?-synthase deficiency.
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Purification, crystallization and preliminary crystallographic analysis of human cystathionine ?-synthase.
Purification, crystallization and preliminary crystallographic analysis of the catalytic core of cystathionine ?-synthase from Saccharomyces cerevisiae.
Purification, crystallization and preliminary crystallographic analysis of the full-length cystathionine ?-synthase from Apis mellifera.
Recent advances in the mechanism of pyridoxine-responsive disorders.
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Reduction of false negative results in screening of newborns for homocystinuria.
Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.
Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk.
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones.
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Screening for serum total homocysteine in newborn children.
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
Sex-specific dysregulation of cysteine oxidation and the methionine and folate cycles in female cystathionine gamma-lyase null mice: a serendipitous model of the methylfolate trap.
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ?-synthase p.R336C.
Spatial and temporal expression of the cystathionine beta-synthase gene during early human development.
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Structural basis of regulation and oligomerization of human cystathionine ?-synthase, the central enzyme of transsulfuration.
Structural insight into the molecular mechanism of allosteric activation of human cystathionine ?-synthase by S-adenosylmethionine.
Structural insights into mutations of cystathionine beta-synthase.
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
The c.797 G>A (p.R266K) cystathionine ?-synthase mutation causes homocystinuria by affecting protein stability.
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
The effect of dietary modulation of sulfur amino acids on cystathionine ? synthase-deficient mice.
The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
The natural history of vascular disease in homocystinuria and the effects of treatment.
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
The role of cystathionine beta-synthase in homocysteine metabolism.
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings.
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Treatment of inherited homocystinurias.
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Unilateral and Spontaneous Complete Anterior Dislocation of the Crystalline Lens in a Patient With Homocystinuria.
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
[A case report of pyridoxine-responsive homocystinuria]
[Cerebral venous thrombosis and homocystinuria: case report]
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]
[Cystathionine betasynthase and MTHFR deficiencies in adults]
[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
[From gene to disease; from homocysteine to hyperhomocysteinemia]
[Homocystinuria in adulthood]
[Homocystinuria with generalized chorea and other movement disorders: a case report]
[Homocystinuria--biochemical, clinical and genetic aspects]
[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]
[Inherited metabolic disorders of the transsulfuration pathway]
[Plasma homocysteine, a risk factor for premature vascular disease. Plasma levels in healthy persons; during pathologic conditions and drug therapy]
[Severe hyperhomocysteinemia revealing homocystinuria in two young adults with mild phenotype]
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase.]
Homozygous Familial Hypercholesterolemia
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Huntington Disease
Huntingtin interacts with cystathionine beta-synthase.
Hydrocephalus
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hydrocephalus, Normal Pressure
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hyperalgesia
Endogenous H2S sensitizes the PAR4-induced bladder pain.
Promoter demethylation of cystathionine-?-synthetase gene contributes to inflammatory pain in rats.
Role of hydrogen sulfide in the pain processing of non-diabetic and diabetic rats.
Hypercholesterolemia
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis]
Hyperglycemia
[Expressions of CSE and CBS in the penile corpus cavernosum of hyperglycemia rats and their implications].
Hyperhomocysteinemia
Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia.
Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia.
Alterations of retinal vasculature in cystathionine-Beta-synthase mutant mice, a model of hyperhomocysteinemia.
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.
Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.
Calpain activation is required for homocysteine-mediated hepatic degradation of inhibitor I kappa B alpha.
CBS gene polymorphism and promoter methylation-mediating effects on the efficacy of folate therapy in patients with hyperhomocysteinemia.
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Chronoeffects of the Herbal Medicines Puerariae radix and Coptidis rhizoma in Mice: A Potential Role of REV-ERB?.
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.
Creatine prevents the imbalance of redox homeostasis caused by homocysteine in skeletal muscle of rats.
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Cystathionine beta synthase gene dose dependent vascular remodeling in murine model of hyperhomocysteinemia.
Cystathionine beta-synthase is essential for female reproductive function.
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
Diabetes Accelerates Retinal Neuronal Cell Death In A Mouse Model of Endogenous Hyperhomocysteinemia.
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Dyrk1A, a Serine/Threonine Kinase, is Involved in ERK and Akt Activation in the Brain of Hyperhomocysteinemic Mice.
Effect of hyperhomocysteinemia on protein C activation and activity.
Effect of hyperhomocysteinemia on the protein kinase DYRK1A in liver of mice.
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
Effects of catechin on homocysteine metabolism in hyperhomocysteinemic mice.
Effects of red wine polyphenolic compounds on paraoxonase-1 and lectin-like oxidized low-density lipoprotein receptor-1 in hyperhomocysteinemic mice.
Elevated levels of homocysteine compromise blood-brain barrier integrity in mice.
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Endothelial dysfunction in a murine model of mild hyperhomocyst(e)inemia.
Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia.
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Fasting plasma homocysteine levels are increased in young patients with acute myocardial infarction from Western India.
Feasibility of domino liver transplantation from hyperhomocsyteinemia.
Gene polymorphism and coronary risk factors in Indian population.
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases.
Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice.
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
Hepatocyte-specific Dyrk1a gene transfer rescues plasma apolipoprotein A-I levels and aortic Akt/GSK3 pathways in hyperhomocysteinemic mice.
High prevalence of a mutation in the cystathionine beta-synthase gene.
Homocysteine and atheromatous renal artery stenosis.
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
Homocysteine induces energy imbalance in rat skeletal muscle: Is creatine a protector?
Homocysteine metabolism.
Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways.
Homocysteine-lowering gene therapy rescues signaling pathways in brain of mice with intermediate hyperhomocysteinemia.
Homocysteine: overview of biochemistry, molecular biology, and role in disease processes.
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Human cystathionine beta-synthase is a target for sumoylation.
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation.
Hydrogen sulfide generation in mammals: the molecular biology of cystathionine-?- synthase (CBS) and cystathionine-?-lyase (CSE).
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation.
Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease.
Hyperhomocysteinemia associated with decreased renal transsulfuration activity in Dahl S rats.
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Hyperhomocysteinemia in patients with acute intermittent porphyria.
Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine ?-synthase-mediated homocysteine metabolism.
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Hyperhomocysteinemia induced endothelial progenitor cells dysfunction through hyper-methylation of CBS promoter.
Hyperhomocysteinemia: an independent risk factor for vascular disease.
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Impaired homocysteine metabolism and atherothrombotic disease.
Inactivation of cystathionine beta-synthase with peroxynitrite.
Increased endogenous H2S generation by CBS, CSE, and 3MST gene therapy improves ex vivo renovascular relaxation in hyperhomocysteinemia.
Increased plasma homocysteine concentration in rats from a low casein diet.
Influence of preconditioning-like hypoxia on the liver of developing methyl-deficient rats.
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice.
Molecular Rescue of DYRK1A Overexpression in Cystathionine Beta Synthase-Deficient Mouse Brain by Enriched Environment Combined with Voluntary Exercise.
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Murine models of hyperhomocysteinemia and their vascular phenotypes.
Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.
One-carbon cycle alterations induced by Dyrk1a dosage.
Oxidative stress and platelet activation in homozygous homocystinuria.
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
Pathophysiological consequences of homocysteine excess.
Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia.
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
Placental NRP1 and VEGF expression in pre-eclamptic women and in a homocysteine-treated mouse model of pre-eclampsia.
Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
PP013. Single nucleotide polymorphisms of the maternal cystathionine-b-synthase gene are associated with preeclampsia (PE).
Protection and reversal of hepatic fibrosis by red wine polyphenols in hyperhomocysteinemic mice.
Protein phosphatase 2A methyltransferase links homocysteine metabolism with tau and amyloid precursor protein regulation.
Regulation of extracellular signal-regulated kinase by homocysteine in hippocampus.
Resveratrol supplementation worsen the dysregulation of genes involved in hepatic lipid homeostasis observed in hyperhomocysteinemic mice.
Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene.
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Suppression of uracil-DNA glycosylase induces neuronal apoptosis.
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
The Cbs Locus Affects the Expression of Senescence Markers and mtDNA Copy Number, but not Telomere Dynamics in Mice.
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
Tissue-specific downregulation of dimethylarginine dimethylaminohydrolase in hyperhomocysteinemia.
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing.
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
[A hyperhomocysteinemia study in a population with a familial factor for acute myocardial infarct and sudden cardiac death at a young age]
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]
[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
[Homocysteine--a risk factor for atherosclerosis]
[Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data]
Hyperinsulinism
Effects of a high-fat-sucrose diet on enzymes in homocysteine metabolism in the rat.
Insulin secretion as a potential determinant of homocysteine levels.
Hyperlipoproteinemia Type II
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Hypersensitivity
Adrenergic stimulation sensitizes TRPV1 through upregulation of cystathionine ?-synthetase in a rat model of visceral hypersensitivity.
Inhibition of cystathionine ?-synthetase suppresses sodium channel activities of dorsal root ganglion neurons of rats with lumbar disc herniation.
Promoted interaction of nuclear factor-?B with demethylated cystathionine-?-synthetase gene contributes to gastric hypersensitivity in diabetic rats.
TLR4 upregulates CBS expression through NF-?B activation in a rat model of irritable bowel syndrome with chronic visceral hypersensitivity.
Hypertension
Association between gene promoter methylation of the one-carbon metabolism pathway and serum folate among patients with hyperhomocysteinemia.
Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
CBS promoter hypermethylation increases the risk of hypertension and stroke.
Downregulating the P2X3 receptor in the carotid body to reduce blood pressure via acoustic gene delivery in canines.
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Hyperhomocysteinemia: association with renal transsulfuration and redox signaling in rats.
Leptin Induces Hypertension Acting on Transient Receptor Potential Melastatin 7 Channel in the Carotid Body.
Modeling premature occurrence of acute coronary syndrome with atherogenic and thrombogenic risk factors and gene markers in extended families.
Precision Targeted Ablation of Fine Neurovascular Structures In Vivo Using Dual-mode Ultrasound Arrays.
Review: Hyperhomocysteinemia - association with renal transsulfuration and redox signaling in rats.
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Studies in Zebrafish Demonstrate That CNNM2 and NT5C2 Are Most Likely the Causal Genes at the Blood Pressure-Associated Locus on Human Chromosome 10q24.32.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
[Immunocytochemical characterization H2S-positive neurons in the nuclei of bulbar cardiovascular center in the development of renovascular hypertension].
[Immunohistochemical study of H(2)S-positive neurons in some brain structures of people with arterial hypertension].
Hypertension, Renovascular
[Immunocytochemical characterization H2S-positive neurons in the nuclei of bulbar cardiovascular center in the development of renovascular hypertension].
Hyperthyroidism
Altered gene expression of hydrogen sulfide-producing enzymes in the liver and muscles tissues of hyperthyroid rats.
INFLUENCE OF CHRONIC HYPERHOMOCYSTEINEMIA ON METABOLISM OF SULFUR CONTAINING AMINO ACIDS IN THE RATS' HEART AND BRAIN ON THE BACKGROUND OF HYPERTHYREOSIS AND HYPOTHYREOSIS.
Hyperventilation
The role of hydrogen sulphide in the control of breathing in hypoxic zebrafish (Danio rerio).
Hypoalphalipoproteinemias
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Hypoglycemia
Neurotrophic Properties, Chemosensory Responses and Neurogenic Niche of the Human Carotid Body.
Hypokalemia
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
Novel Compound Heterozygous CLCNKB Gene Mutations (c.1755A>G/ c.848_850delTCT) Cause Classic Bartter Syndrome.
Hypokinesia
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Hypopigmentation
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Hypotension
The cardiovascular effects of central hydrogen sulphide are related to K(ATP) channels activation.
Hypothyroidism
INFLUENCE OF CHRONIC HYPERHOMOCYSTEINEMIA ON METABOLISM OF SULFUR CONTAINING AMINO ACIDS IN THE RATS' HEART AND BRAIN ON THE BACKGROUND OF HYPERTHYREOSIS AND HYPOTHYREOSIS.
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Hypoventilation
Contribution of the Retrotrapezoid Nucleus and Carotid Bodies to Hypercapnia- and Hypoxia-induced Arousal from Sleep.
Infarction, Middle Cerebral Artery
"Zipped Synthesis" by Cross-Metathesis Provides a Cystathionine ?-Synthase Inhibitor that Attenuates Cellular H2S Levels and Reduces Neuronal Infarction in a Rat Ischemic Stroke Model.
Cystathionine ?-synthase inhibition is a potential therapeutic approach to treatment of ischemic injury.
Infections
A Medicago truncatula Cystathionine Beta Synthase like domain-containing protein is required for rhizobial infection and symbiotic nitrogen fixation.
Agrobacterium-mediated transformation of Guignardia citricarpa: an efficient tool to gene transfer and random mutagenesis.
An antibody to the GM1/GalNAc-GD1a complex correlates with development of pure motor Guillain-Barré syndrome with reversible conduction failure.
Antibacterial action of bismuth in relation to Campylobacter pyloridis colonization and gastritis.
Bismuth antimicrobial drugs serve as broad-spectrum metallo-?-lactamase inhibitors.
Brain abscess formation: a delayed complication of carotid blowout syndrome treated by self-expandable stent-graft.
Carotid blowout syndrome: modern trends in management.
Colloid bismuth versus famotidine in the treatment and prevention of duodenal ulcer relapse: results of a double-blind, double dummy randomized study.
Colloidal bismuth in the treatment of duodenal ulceration: the benefit for the patient.
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Development of the International Consortium for Blood Safety (ICBS) HCV panels.
Equivalent blastocyst rates after freezing murine embryos in Cryo Bio System high security or standard instruments-medicine-veterinarian straws.
Evaluating the impact of public health notification of suspected transfusion-transmissible hepatitis C virus infection and effectiveness of lookback and traceback investigations by Canadian Blood Services in British Columbia, Canada, August 2002 through February 2005.
Evaluation of a paper by Guarnaccia et al. (2017) on the first report of Phyllosticta citricarpa in Europe.
Healing of chronic antral gastritis: effect of sucralfate and colloidal bismuth subcitrate.
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Potential distribution of citrus black spot in the United States based on climatic conditions
Protection against systemic infections with various Candida species elicited by vaccination with Candida albicans ribosomes.
Self expandable polytetrafluoroethylene stent for carotid blowout syndrome.
Spatial and Temporal Genetic Analyses of Phyllosticta citricarpa in Two Lemon Orchards in South Africa Reveal a Role of Asexual Reproduction Within Sexually Reproducing Populations.
Sweet Orange Fruit Age and Inoculum Concentration Affect the Expression of Citrus Black Spot Symptoms.
The role of Cajal bodies in the expression of late phase adenovirus proteins.
The Role of Individual Carbohydrate-Binding Sites in the Function of the Potent Anti-HIV Lectin Griffithsin.
Treatment of Campylobacter pylori gastritis: a pilot study using pirenzepine dihydrochloride (Gastrozepin) and three formulations of colloidal bismuth subcitrate (De-Nol).
Urethral Catheter Biofilms Reveal Plasticity in Bacterial Composition and Metabolism and Withstand Host Immune Defenses in Hypoxic Environment.
[Animal experiment and cell biology study of Saccharomyces cerevisiae Hansen CBS 5926 in the non-specific enhancement of resistance to infection]
[Guillain-Barré and Fisher syndromes: update on the pathophysiological role of antiganglioside antibodies].
Infertility
Cystathionine beta-synthase is essential for female reproductive function.
Degenerated panicle and partial sterility 1 (DPS1) encodes a CBS domain containing protein required for anther cuticle and panicle development in rice.
Evaluation of the BacT/ALERT 3D system for the implementation of in-house quality control sterility testing at Canadian Blood Services.
Nanotheranostics in evidence based personalized medicine.
Infertility, Female
Cystathionine beta-synthase is essential for female reproductive function.
Infertility, Male
Cystathionine B-Synthase 844ins68 Gene Variant and Idiopathic Male Infertility.
Influenza, Human
Estimation of community-level influenza-associated illness in a low resource rural setting in India.
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Insomnia, Fatal Familial
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Insulin Resistance
Carotid baroreceptor stimulation in obese rats affects white and brown adipose tissues differently in metabolic protection.
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
Exploring the Mediators that Promote Carotid Body Dysfunction in Type 2 Diabetes and Obesity Related Syndromes.
Insulin resistance: A new consequence of altered carotid body chemoreflex?
Insulin secretion as a potential determinant of homocysteine levels.
Intellectual Disability
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Biochemistry of homocysteine in health and diseases.
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata.
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death.
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Hippocampal cystathionine beta synthase in young and aged mice.
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Reduction of false negative results in screening of newborns for homocystinuria.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
The art of magnesium transport.
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Intestinal Perforation
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Intracranial Aneurysm
Endoscopic Muscle Repair of Right Internal Carotid Artery Rupture Following Endovascular Procedure.
Polymorphisms of homocysteine metabolism are associated with intracranial aneurysms.
Intracranial Thrombosis
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]
Iron Overload
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
Irritable Bowel Syndrome
TLR4 upregulates CBS expression through NF-?B activation in a rat model of irritable bowel syndrome with chronic visceral hypersensitivity.
Ischemic Stroke
Clot Burden Score on Baseline Computerized Tomographic Angiography and Intra-Arterial Treatment Effect in Acute Ischemic Stroke.
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Homocyst(e)ine and stroke.
Peripheral nerve involvement in classic homocystinuria: an unusual association.
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Prognostic Value of Clot Burden Score in Acute Ischemic Stroke after Reperfusion Therapies: A Systematic Review and Meta-Analysis.
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Similar Outcomes for Contact Aspiration and Stent Retriever Use According to the Admission Clot Burden Score in ASTER.
The effect of polymorphisms of MTHFR C677T, A1298C, MS A2756G and CBS 844ins68bp on plasma total homocysteine level and the risk of ischemic stroke in Thai children.
[Genetic mutations of homocysteine metabolism related enzymes in patients with ischemic stroke.]
Keratitis
Synergistic effect of regenerating agent plus cord blood serum eye drops for the treatment of resistant neurotrophic keratitis: a case report and a hypothesis for pathophysiologic mechanism.
Kidney Failure, Chronic
A case of bismuth intoxication with irreversible renal damage.
Kidney Neoplasms
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Language Disorders
Language Disorder in Progressive Supranuclear Palsy and Corticobasal Syndrome: Neural Correlates and Detection by the MLSE Screening Tool.
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Latent Infection
The Effects of Postharvest Treatments and Sunlight Exposure on the Reproductive Capability and Viability of Phyllosticta citricarpa in Citrus Black Spot Fruit Lesions.
Leiomyoma
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Lens Subluxation
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Intraoperative capsular block syndrome masquerading as expulsive hemorrhage.
[Cystathionine betasynthase and MTHFR deficiencies in adults]
Leprosy
Charles Bonnet syndrome in leprosy; prevalence and clinical characteristics.
Leukemia
CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN.
Cell size and water permeability as determining factors for cell viability after freezing at different cooling rates.
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
Efficient bone marrow transduction by gene transfer with allogeneic umbilical cord blood serum and plasma: an implication for clinical trials.
ELL and EAF1 are Cajal body components that are disrupted in MLL-ELL leukemia.
Genetic predisposition and treatment-related leukemia.
Leukemia, Lymphoid
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Leukemia, Megakaryoblastic, Acute
Down syndrome, drug metabolism and chromosome 21.
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Inhibition of cystathionine ?-synthase promotes apoptosis and reduces cell proliferation in chronic myeloid leukemia.
Leukemia, Myeloid
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Leukemia, Myeloid, Acute
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
High frequency of the 844ins68 cystathionine-beta-synthase gene variant in Down syndrome children with acute myeloid leukemia.
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Lewy Body Disease
An autopsy case of corticobasal syndrome with pure diffuse Lewy Body Disease.
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
[Corticobasal syndrome: recent advances and future directions].
[Pathology of corticobasal syndrome].
Liver Cirrhosis
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma.
Liver Diseases
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Effect of hyperhomocysteinemia on the protein kinase DYRK1A in liver of mice.
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.
Exendin-4 regulates redox homeostasis in rats fed with high-fat diet.
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Plasma homocysteine level is elevated in patients on isotretinoin therapy for cystic acne: a prospective controlled study.
The effect of isotretinoin treatment on plasma homocysteine levels in acne vulgaris.
Liver Failure
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
Liver Neoplasms
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Arsenic trioxide-loaded CalliSpheres: In vitro study of drug release and antitumor activity, and in vivo study of pharmacokinetics, treatment efficacy and safety in liver cancer.
Lung Neoplasms
Contribution of cell blocks obtained through endobronchial ultrasound-guided transbronchial needle aspiration for the determination of lung cancer subtypes.
Diagnostic utility of cell-block from bronchial washing in pulmonary neoplasms.
Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina.
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.
rpL3 promotes the apoptosis of p53 mutated lung cancer cells by down-regulating CBS and NF?B upon 5-FU treatment.
Utility of cell blocks obtained by catheter aspiration via a guide sheath during endobronchial ultrasonography.
[Mortality rate in lung cancer decreasing in men and increasing in women]
Lymphatic Metastasis
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Lymphoma
Diagnosing Kikuchi's disease on fine needle aspiration biopsy.
The Value of Cellblock in Diagnosing Pancreatic Lymphomas.
Lymphoma, Non-Hodgkin
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Polymorphisms in folate-metabolizing genes and risk of non-Hodgkin's lymphoma.
Macular Degeneration
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Charles bonnet syndrome: treating nonpsychiatric hallucinations.
Perceived color of hallucinations in the Charles Bonnet Syndrome is related to residual color contrast sensitivity.
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Visual loss and visual hallucinations in patients with age-related macular degeneration (Charles Bonnet syndrome).
What associates Charles Bonnet syndrome with age-related macular degeneration?
[Charles Bonnet syndrome. A 45-case series].
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
Malaria
Driving towards malaria elimination in Botswana by 2018: progress on case-based surveillance, 2013-2014.
Enhanced detection of gametocytes by magnetic deposition microscopy predicts higher potential for Plasmodium falciparum transmission.
Possible selection of host folate pathway gene polymorphisms in patients with malaria from a malaria endemic region in North East India.
Malnutrition
Humanitarian led community-based surveillance: case study in Ekondo-titi, Cameroon.
Maple Syrup Urine Disease
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Marfan Syndrome
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
Homocystinuria due to cystathionine beta synthase deficiency.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Memory Disorders
Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.
Meningioma
Polymorphisms of methionine metabolism and susceptibility to meningioma formation: laboratory investigation.
Meningomyelocele
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
Mesothelioma, Malignant
Distinguishing benign from malignant mesothelial cells in effusions by Glut-1, EMA, and Desmin expression: an evidence-based approach.
Metabolic Diseases
Clinical and laboratory features of homocystinuria.
Enzyme replacement with PEGylated cystathionine ?-synthase ameliorates homocystinuria in murine model.
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and raman spectroscopy.
High fat diet blunts the effects of leptin on ventilation and on carotid body activity.
In vitro effect of homocysteine on some parameters of oxidative stress in rat hippocampus.
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
Metabolism, Inborn Errors
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Newborn screening for homocystinurias: recent recommendations versus current practice.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
The Effect of in Vitro Homocystinuria on the Suckling Rat Hippocampal Acetylcholinesterase.
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
Treatment of inherited homocystinurias.
[Cystathionine betasynthase and MTHFR deficiencies in adults]
Migraine Disorders
Non-vascular action of calcium blockers in migraine: pupillopharmacological study.
What associates Charles Bonnet syndrome with age-related macular degeneration?
Motor Neuron Disease
Cajal bodies in neurons.
Neuropathological background of phenotypical variability in frontotemporal dementia.
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Mouth Neoplasms
Polymorphisms in methylenetetrahydrofolate reductase and cystathionine beta-synthase in oral cancer - a case-control study in southeastern Brazilians.
Movement Disorders
Alzheimer's disease and corticobasal degeneration presenting as corticobasal syndrome.
Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome.
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Olfactory function in corticobasal syndrome and frontotemporal dementia.
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Multiple Endocrine Neoplasia Type 2b
Acute Life-Threatening Hemorrhage in Patients with Head and Neck Cancer Presenting with Carotid Blowout Syndrome: Follow-Up Results after Initial Hemostasis with Covered-Stent Placement.
Multiple Myeloma
A Genome-Wide Association Study Identifies a Novel Locus for Bortezomib-Induced Peripheral Neuropathy in European Patients with Multiple Myeloma.
Multiple Sclerosis
Therapeutic potential of cannabis in pain medicine.
Multiple System Atrophy
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Muscle Weakness
Triple-stimulation technique in multifocal neuropathy with conduction block.
Muscular Atrophy
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Muscular Atrophy, Spinal
Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis.
Muscular Diseases
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Mycetoma
Parascedosporium and its relatives: phylogeny and ecological trends.
Mycoses
Comparison of modified Chicago sky blue stain and potassium hydroxide mount for the diagnosis of dermatomycoses and onychomycoses.
Myocardial Infarction
Carotid Baroreceptor Stimulation Prevents Arrhythmias Induced by Acute Myocardial Infarction through Autonomic Modulation.
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Homocysteine thiolactone disposal by human arterial endothelial cells and serum in vitro.
Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans.
Polymorphisms in MTHFR, MS and CBS genes and premature acute myocardial infarction in a Pakistani population.
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Myoclonus
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Symmetric corticobasal degeneration (S-CBD).
Myoma
A multicenter study comparing surgical outcomes and ultrasonographic evaluation of scarring after laparoscopic myomectomy with conventional versus barbed sutures.
Myopia
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Cystathionine ?-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanogaster.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Myositis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Myositis, Inclusion Body
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Myotonia
CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones).
CBS domains: structure, function, and pathology in human proteins.
Myotonic Dystrophy
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Narcolepsy
What associates Charles Bonnet syndrome with age-related macular degeneration?
Nasopharyngeal Carcinoma
Carotid blowout syndrome after nasopharyngeal carcinoma radiotherapy: successful treatment by internal carotid artery occlusion after stent implantation failure.
Carotid blowout syndrome with oronasal hemorrhage: magnetic resonance imaging findings.
Fatal bleeding in a nasopharyngeal carcinoma patient after concurrent chemoradiation plus cetuximab: a case report.
Nasopharyngeal Neoplasms
Flow-diverter in radiation-induced skull base carotid blowout syndrome: do not write it off!
Neoplasm Metastasis
Carotid blowout in patients with head and neck cancer.
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Characterization of the small RNA transcriptomes of cell protrusions and cell bodies of highly metastatic hepatocellular carcinoma cells via RNA sequencing.
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Combination of curcuma zedoary and kelp inhibits growth and metastasis of liver cancer in vivo and in vitro via reducing endogenous H2S levels.
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Hydrogen Sulfide and Cancer.
Hydrogen sulfide modulates epithelial-mesenchymal transition and angiogenesis in non-small cell lung cancer via HIF-1? activation.
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Oncologic Outcome of Endoscopic Assisted Breast Surgery Compared with Conventional Approach in Breast Cancer: An Analysis of 3426 Primary Operable Breast Cancer Patients from Single Institute with and Without Propensity Score Matching.
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
The role of transforming growth factor-beta in suppression of hepatic metastasis from colon cancer.
Transforming growth factor-ß suppresses metastasis in a subset of human colon carcinoma cells.
Neoplasms
"She Would Be Flailing Around Distressed": The Critical Role of Home-Based Palliative Care for Patients with Advanced Cancer.
A multicenter study comparing surgical outcomes and ultrasonographic evaluation of scarring after laparoscopic myomectomy with conventional versus barbed sutures.
A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability.
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
An Anticancer Role of Hydrogen Sulfide in Human Gastric Cancer Cells.
Anti-cancer activity of Conyza blinii saponin against cervical carcinoma through MAPK/TGF-?/Nrf2 signaling pathways.
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Arsenic trioxide-loaded CalliSpheres: In vitro study of drug release and antitumor activity, and in vivo study of pharmacokinetics, treatment efficacy and safety in liver cancer.
Assessment of Programmed Death-Ligand 1 (PD-L1) Immunohistochemical Expression on Cytology Specimens in Non-Small Cell Lung Carcinoma: A Comparative Study With Paired Surgical Specimens.
Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.
Bateman domains and adenosine derivatives form a binding contract.
Brain abscess formation: a delayed complication of carotid blowout syndrome treated by self-expandable stent-graft.
Bright-field HER2 dual in situ hybridization (DISH) assay on breast cancer cell blocks: a comparative study with histological sections.
Butyrate stimulated H2S production in colon cancer cell.
Cajal Bodies: A Long History of Discovery.
Cajal bodies: a long history of discovery.
Cannabinoids prevent the opposite regulation of astroglial connexin43 hemichannels and gap junction channels induced by pro-inflammatory treatments.
Carotid blowout in patients with head and neck cancer.
Carotid Blowout Management in the Endovascular Era.
Carotid blowout syndrome in patients with head-and-neck cancers: reconstructive management by self-expandable stent-grafts.
Carotid blowout syndrome: modern trends in management.
Cell block as an adjunct to conventional Papanicolaou smear for diagnosis of cervical cancer in resource-limited settings.
Cell blocks in cytopathology: a review of preparative methods, utility in diagnosis and role in ancillary studies.
Cell blocks in cytopathology: An update.
Cellular responses to TGF? and TGF? receptor expression in human colonic epithelial cells require CaSR expression and function.
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
CO-CBS-H2 S Axis: From Vascular Mediator to Cancer Regulator.
Coilin phosphomutants disrupt Cajal body formation, reduce cell proliferation and produce a distinct coilin degradation product.
Comparing Local TV News with National TV News in Cancer Coverage: An Exploratory Content Analysis.
Comparison of Anti-Inflammatory Effects of Flavonoid-Rich Common and Tartary Buckwheat Sprout Extracts in Lipopolysaccharide-Stimulated RAW 264.7 and Peritoneal Macrophages.
Comparison of efficacy of cell block versus conventional smear study in exudative fluids.
Comparison of gene expression profiles in core biopsies and corresponding surgical breast cancer samples.
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Crystal Structures of Cystathionine ?-Synthase from Saccharomyces cerevisiae: One Enzymatic Step at a Time.
CTCF/cohesin-binding sites are frequently mutated in cancer.
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
Cystathionine ?-Synthase in Physiology and Cancer.
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Cystathionine-?-Synthase: Molecular Regulation and Pharmacological Inhibition.
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Dandelion root extract affects ESCC progression via regulating multiple signal pathways.
Decreased Expression of Cystathionine ?-Synthase Promotes Glioma Tumorigenesis.
Delayed extrusion of embolic coils into the airway after embolization of an external carotid artery pseudoaneurysm.
Detection of Prostate Cancer: Quantitative Multiparametric MR Imaging Models Developed Using Registered Correlative Histopathology.
Diagnostic utility of cell-block from bronchial washing in pulmonary neoplasms.
Differential diagnosis of mesenchymal neoplasms of the digestive tract by cell block and immunohistochemistry.
Discovery of selective cystathionine ?-synthase inhibitors by high-throughput screening with a fluorescent thiol probe.
DNA hypomethylation of CBS promoter induced by folate deficiency is a potential noninvasive circulating biomarker for colorectal adenocarcinomas.
DNA methylome profiling identifies novel methylated genes in epithelial ovarian cancer patients with platinum resistance.
DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
DOG1, p63, and S100 protein: a novel immunohistochemical panel in the differential diagnosis of oncocytic salivary gland neoplasms in fine-needle aspiration cell blocks.
Effect of cystathionine beta-synthase variant 844ins68bp and methylenetetrahydrofolate reductase A1298C polymorphisms in xenografts on 5-FU efficacy and doubling time.
Effects of cannabinoids and related fatty acids upon the viability of P19 embryonal carcinoma cells.
Effects of novel and conventional anti-cancer agents on human endothelial permeability: influence of tumour secreted factors.
Efficacy of Novel Aminooxyacetic Acid Prodrugs in Colon Cancer Models: Towards Clinical Translation of the Cystathionine ?-Synthase Inhibition Concept.
Endocannabinoid system as a regulator of tumor cell malignancy - biological pathways and clinical significance.
Endovascular management of carotid blowout syndrome in patients with head and neck cancers.
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy.
Evaluation of cell blocks from effusion specimens in Gynecologic Oncopathology: An experience of 220 cases, diagnosed at a Tertiary Cancer Referral Center.
Expression of cystathionine beta-synthase is downregulated in hepatocellular carcinoma and associated with poor prognosis.
Expression profiling of homocysteine junction enzymes in the NCI60 panel of human cancer cell lines.
Fatal carotid blowout syndrome after BNCT for head and neck cancers.
Folate Receptor Alpha Immunohistochemistry in Cytology Specimens of Metastatic Breast Carcinoma.
Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study.
Free CEA binding substance in cancer sera.
Future Aspects for Cannabinoids in Breast Cancer Therapy.
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.
Grading pancreatic neuroendocrine neoplasms by Ki-67 staining on cytology cell blocks: manual count and digital image analysis of 58 cases.
Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-?-synthase.
HER 2 immunohistochemistry for breast cancer cell blocks can be used in the same way as that used for histological specimens.
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Hydrogen Sulfide and Cancer.
Hydrogen sulfide modulates epithelial-mesenchymal transition and angiogenesis in non-small cell lung cancer via HIF-1? activation.
Identification of novel cellular targets in biliary tract cancers using global gene expression technology.
Identification of novel HMGA2 fusion sequences in lipoma: Evidence that deletion of let-7 miRNA consensus binding site 1 in the HMGA2 3' UTR is not critical for HMGA2 transcriptional upregulation.
In vivo analysis of insulin-like growth factor type 1 receptor humanized monoclonal antibody MK-0646 and small molecule kinase inhibitor OSI-906 in colorectal cancer.
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Increased Nicotinamide Phosphoribosyltransferase and Cystathionine-?-Synthase in Renal Oncocytomas, Renal Urothelial Carcinoma, and Renal Clear Cell Carcinoma.
Inhibiting androgen receptor nuclear entry in castration-resistant prostate cancer.
Inhibition of cystathionine ?-synthase promotes apoptosis and reduces cell proliferation in chronic myeloid leukemia.
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Low CBS expression can identify patients who benefit from adjuvant chemotherapy in gastric cancer.
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Mutation hotspots at CTCF binding sites coupled to chromosomal instability in gastrointestinal cancers.
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
Phosphorylation and the Cajal body: modification in search of function.
Photoacoustic probes for real-time tracking of endogenous H2S in living mice.
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review.
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Potential role of the 3-mercaptopyruvate sulfurtransferase (3-MST)-hydrogen sulfide (H2S) pathway in cancer cells.
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Pros and Cons of the Cannabinoid System in Cancer: Focus on Hematological Malignancies.
Protective Effect of Calculus Bovis Sativus on Dextran Sulphate Sodium-Induced Ulcerative Colitis in Mice.
Quantitative assessment of p16 expression in FNA specimens from head and neck squamous cell carcinoma and correlation with HPV status.
Randomized controlled trial of a brief cognitive-behavioral strategies intervention for the pain, fatigue, and sleep disturbance symptom cluster in advanced cancer.
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part II. Pathophysiological and Therapeutic Aspects.
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation, Migration, and Bioenergetics in Murine Colon Cancer Cells.
Role of cystathionine beta synthase in lipid metabolism in ovarian cancer.
Saponin fraction isolated from Conyza blinii H.Lév. demonstrates strong anti-cancer activity that is due to its NF-?B inhibition.
Screening of a composite library of clinically used drugs and well-characterized pharmacological compounds for cystathionine ?-synthase inhibition identifies benserazide as a drug potentially suitable for repurposing for the experimental therapy of colon cancer.
Signals controlling Cajal body assembly and function.
Status of radiotherapy in a multidisciplinary cancer board.
Targeting hydrogen sulphide signaling in breast cancer.
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
The association between the 844ins68 polymorphism in the CBS gene and breast cancer.
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
The diagnostic value of cell block as an adjunct to liquid-based cytology of bronchial washing specimens in the diagnosis and subclassification of pulmonary neoplasms.
The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
The Therapeutic Potential of Cystathionine ?-Synthetase/Hydrogen Sulfide Inhibition in Cancer.
The use of a covered stent in carotid blowout syndrome.
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
The Value of Cellblock in Diagnosing Pancreatic Lymphomas.
Tumor necrosis factor-alpha-induced targeted proteolysis of cystathionine beta-synthase modulates redox homeostasis.
Tumor-derived hydrogen sulfide, produced by cystathionine-?-synthase, stimulates bioenergetics, cell proliferation, and angiogenesis in colon cancer.
Use of ultrasound-guided axillary node core biopsy in staging of early breast cancer.
Utility of cell blocks in the diagnosis of thyroid aspirates.
[Differential gene expression in nasopharyngeal carcinoma cell with reduced and normal expression of 6A8 alpha-mannosidase]
Nephrolithiasis
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones).
Nervous System Diseases
Cajal bodies in neurons.
What associates Charles Bonnet syndrome with age-related macular degeneration?
Neural Tube Defects
Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects.
Disorders of homocysteine metabolism.
Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria.
Polymorphisms of 5,10-Methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Concerning the article by Houcher et al., Pediatr Neurosurg 2009;45:472-477.
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India.
[Study on genotypes of cystathionine beta-synthase in neural tube defects]
Neuralgia
Antinociceptive effects of oleuropein in experimental models of neuropathic pain in male rats.
Beneficial effects of octreotide in alcohol-induced neuropathic pain. Role of H 2S, BDNF, TNF-? and Nrf2.
Endogenous CBS-H2S Pathway Contributes to the Development of CCI-Induced Neuropathic Pain.
Therapeutic potential of cannabis in pain medicine.
Neurobehavioral Manifestations
Personality Assessment Inventory Cognitive Bias Scale: Validation in a Military Sample.
Neuroblastoma
An evidence-based recommendation for a standardized approach to detecting metastatic neuroblastoma in staging bone marrow biopsies.
An Evidence-based Recommendation for a Standardized Approach to Detecting Metastatic Neuroblastoma in Staging Bone Marrow Biopsies.
Detoxification of methylmercury by hydrogen sulfide-producing enzyme in Mammalian cells.
Hydrogen sulfide generation from l-cysteine in the human glioblastoma-astrocytoma U-87 MG and neuroblastoma SHSY5Y cell lines.
The SMN Protein is a Key Regulator of Nuclear Architecture in Differentiating Neuroblastoma Cells.
Neurodegenerative Diseases
A colorimetric and ratiometric fluorescent probe for the imaging of endogenous hydrogen sulphide in living cells and sulphide determination in mouse hippocampus.
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Cajal Bodies: A Long History of Discovery.
Cajal bodies: a long history of discovery.
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers.
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus.
Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?
Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-?-synthase.
Homocysteine-lowering gene therapy rescues signaling pathways in brain of mice with intermediate hyperhomocysteinemia.
Microglia activation states and cannabinoid system: Therapeutic implications.
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Neuroectodermal Tumors, Primitive
Insulinoma-associated protein 1 (INSM1) is a robust marker for identifying and grading pancreatic neuroendocrine tumors.
Neuroendocrine Tumors
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Neuroinflammatory Diseases
Beneficial effects of octreotide in alcohol-induced neuropathic pain. Role of H 2S, BDNF, TNF-? and Nrf2.
Neutrophil-to-lymphocyte ratio (NLR) at boundaries of Progressive Supranuclear Palsy Syndrome (PSPS) and Corticobasal Syndrome (CBS).
Niemann-Pick Disease, Type C
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Niemann-Pick Diseases
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Non-alcoholic Fatty Liver Disease
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Exendin-4 regulates redox homeostasis in rats fed with high-fat diet.
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Obesity
Altered glutathione homeostasis in heart augments cardiac lipotoxicity associated with diet-induced obesity in mice.
Are genetic variants of the methyl group metabolism enzymes risk factors predisposing to obesity?
Bateman domains and adenosine derivatives form a binding contract.
Carotid baroreceptor stimulation in obese rats affects white and brown adipose tissues differently in metabolic protection.
Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents.
Effects of carotid baroreceptor stimulation on aortic remodeling in obese rats.
Morbidly obese subjects show increased serum sulfide in proportion to fat mass.
Rimonabant: endocannabinoid inhibition for the metabolic syndrome.
Specific downregulation of cystathionine ?-synthase expression in the kidney during obesity.
Olfaction Disorders
Olfactory function in corticobasal syndrome and frontotemporal dementia.
Ophthalmoplegia
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
Osteoporosis
Acute psychosis in an adolescent with undiagnosed homocystinuria.
An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens.
Association of Hydrogen Sulfide with Femoral Bone Mineral Density in Osteoporosis Patients: A Preliminary Study.
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Cystathionine ?-synthase-deficient mice thrive on a low-methionine diet.
Reduction of false negative results in screening of newborns for homocystinuria.
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Osteoradionecrosis
Post-irradiated carotid blowout syndrome in patients with nasopharyngeal carcinoma: A Case-control study.
Otitis Externa
Absence of DNA sequence diversity of the intergenic spacer 1 region in Malassezia nana isolates from cats.
Ovarian Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Carbon monoxide sensitizes cisplatin-resistant ovarian cancer cell lines toward cisplatin via attenuation of levels of glutathione and nuclear metallothionein.
Cystathionine ?-Synthase in Physiology and Cancer.
Cystathionine beta-synthase (CBS) contributes to advanced ovarian cancer progression and drug resistance.
Role of cystathionine beta synthase in lipid metabolism in ovarian cancer.
Targeting Glutathione and Cystathionine ?-Synthase in Ovarian Cancer Treatment by Selenium-Chrysin Polyurea Dendrimer Nanoformulation.
Pancreatic Neoplasms
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Cannabinoid derivatives induce cell death in pancreatic MIA PaCa-2 cells via a receptor-independent mechanism.
Pancreatitis
Acute biliary pancreatitis: detection of common bile duct stones with endoscopic ultrasound.
Gastrointestinal involvement in homocystinuria.
Hydrogen sulfide formation in experimental model of acute pancreatitis.
[The therapeutic strategy in calculosis of the main biliary tract]
Pancytopenia
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
Paralysis
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Corticobasal degeneration and corticobasal syndrome: A review.
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Corticobasal syndrome: Five new things.
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Tau immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.
[Corticobasal syndrome: recent advances and future directions].
[Criteria for the diagnosis of corticobasal degeneration].
[Neuroimaging in corticobasal syndrome].
[Pathology of corticobasal syndrome].
[The genetics of corticobasal syndrome].
Paresis
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Parkinson Disease
A ratiometric two-photon fluorescent probe reveals reduction in mitochondrial H2S production in Parkinson's disease gene knockout astrocytes.
Apraxia in movement disorders.
Atypical Parkinsonian syndromes: a general neurologist's perspective.
Cognition in corticobasal syndrome and progressive supranuclear palsy: a review.
Corticobasal degeneration: advances in clinicopathology and biomarkers.
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Dentatorubrothalamic tract reduction using fixel-based analysis in corticobasal syndrome.
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease.
FP-CIT- and IBZM-SPECT in Corticobasal Syndrome: Results from a Clinical Follow-Up Study.
Impairment of intermediate somatosensory function in corticobasal syndrome.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Neuroprotective effects of lentivirus-mediated cystathionine-beta-synthase overexpression against 6-OHDA-induced parkinson's disease rats.
What associates Charles Bonnet syndrome with age-related macular degeneration?
[The Charles Bonnet syndrome: a case report and a brief review]
Parkinsonian Disorders
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
Atypical parkinsonian syndromes in a North African tertiary referral center.
Basal ganglia echogenicity in tauopathies.
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome.
Corticobasal degeneration: advances in clinicopathology and biomarkers.
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.
Diagnosis and treatment of corticobasal degeneration.
Differential diagnosis of parkinsonian syndromes using F-18 fluorodeoxyglucose positron emission tomography.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease.
Falls in frontotemporal dementia and related syndromes.
Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Presynaptic striatal dopaminergic function in atypical parkinsonisms: A meta-analysis of imaging studies.
Primary motor cortex LTP/LTD-like plasticity in probable corticobasal syndrome.
Scan without evidence of dopaminergic deficit (SWEDD) in degenerative parkinsonism and dementia with Lewy bodies: A prospective study.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
[A Case of Corticobasal Syndrome Complicated with Hypopituitarism and Hashimoto's Disease].
Pediatric Obesity
Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents.
Peptic Ulcer
Bismuth: effects on gastritis and peptic ulcer.
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Is eradication of Helicobacter pylori with colloidal bismuth subcitrate quadruple therapy safe?
peptidyl-glutamate 4-carboxylase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Perceptual Disorders
Comparison of the Behavioural Inattention Test and the Catherine Bergego Scale in assessment of hemispatial neglect.
Pericardial Effusion
[Experience with capecitabine in patients with anthracycline and/or taxane-resistant recurrent breast cancer]
Periodontal Diseases
Hyperhomocysteinemia: an instigating factor for periodontal disease.
Periodontitis
Production of endogenous hydrogen sulfide in human gingival tissue.
Peripheral Nervous System Diseases
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Peroneal Neuropathies
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Phenylketonurias
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Pick Disease of the Brain
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
The many faces of corticobasal degeneration.
[Corticobasal syndrome: recent advances and future directions].
[Pathology of corticobasal syndrome].
Pleural Effusion
[Experience with capecitabine in patients with anthracycline and/or taxane-resistant recurrent breast cancer]
Pneumonia, Aspiration
Ruptured extracranial carotid artery: Endovascular treatment with covered stent graft.
Polymyositis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Polyneuropathies
Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22.
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Porphyrias, Hepatic
Multiple roles of haem in cystathionine ?-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.
Pre-Eclampsia
Genetic susceptibility to preeclampsia: roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase, and factor V Leiden mutation.
Hydrogen sulfide producing enzymes in pregnancy and preeclampsia.
Premature Birth
Neonatal Endocrinologic Problems in Collodion Babies.
Primary Progressive Nonfluent Aphasia
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
Propionic Acidemia
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Prostatic Neoplasms
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Detection of Prostate Cancer: Quantitative Multiparametric MR Imaging Models Developed Using Registered Correlative Histopathology.
Expression profiling of homocysteine junction enzymes in the NCI60 panel of human cancer cell lines.
Testosterone regulation of homocysteine metabolism modulates redox status in human prostate cancer cells.
Proteinuria
Effect of nephrotic syndrome on homocysteine metabolism.
Pseudarthrosis
The spectrum of tibial pseudarthrosis with constriction band syndrome in children.
Psychomotor Agitation
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Pulmonary Embolism
Hereditary thrombophilia in ethnic omani patients.
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Pulmonary Fibrosis
Loss of the Protein Cystathionine ?-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis.
ROCK inhibitor attenuates carbon blacks-induced pulmonary fibrosis in mice via Rho/ROCK/NF-kappa B pathway.
Pythiosis
Data on whole genome sequencing of the oomycete Pythium insidiosum strain CBS 101555 from a horse with pythiosis in Brazil.
Quadriplegia
Motor neuropathy with proximal multifocal persistent conduction block, fasciculations and myokymia. Evolution to tetraplegia.
REM Sleep Behavior Disorder
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Renal Artery Obstruction
Homocysteine and atheromatous renal artery stenosis.
Rupture of the renal artery after cutting balloon angioplasty in a young woman with fibromuscular dysplasia.
Renal Insufficiency
Homocysteine-lowering treatment: an overview.
Renal Insufficiency, Chronic
Loss of the Protein Cystathionine ?-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis.
Reperfusion Injury
Dynamic change of hydrogen sulfide during global cerebral ischemia-reperfusion and its effect in rats.
miR-191 secreted by platelet-derived microvesicles induced apoptosis of renal tubular epithelial cells and participated in renal ischemia-reperfusion injury via inhibiting CBS.
Retinal Degeneration
Comparative localization of cystathionine beta synthases and cystathionine gamma lyase in canine, non-human primate and human retina.
Retinal Detachment
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
Transient formed visual hallucinations following macular translocation for subfoveal choroidal neovascularization secondary to age-related macular degeneration.
Retinal Diseases
The Prevalence and Characteristics of Charles Bonnet Syndrome in Turkish Patients with Retinal Disease.
Retinitis Pigmentosa
CBS domains: structure, function, and pathology in human proteins.
Retinoblastoma
Autocrine transforming growth factor-beta (TGF beta) modulates the 120 kD and 105 kD retinoblastoma (RB) protein species in CBS colon carcinoma cells as revealed by an anti-sense TGF beta 1 expression vector.
High trefoil factor 1 (TFF1) expression in human retinoblastoma cells correlates with low growth kinetics, increased cyclin-dependent kinase (CDK) inhibitor levels and a selective down-regulation of CDK6.
Salivary Gland Neoplasms
DOG1, p63, and S100 protein: a novel immunohistochemical panel in the differential diagnosis of oncocytic salivary gland neoplasms in fine-needle aspiration cell blocks.
Sarcoidosis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Sarcoma
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Molecular testing guidelines for lung adenocarcinoma: Utility of cell blocks and concordance between fine-needle aspiration cytology and histology samples.
Schistosomiasis
[Distribution Characteristics and Potential Risk of CBs in Aquatic Organisms from Typical Epidemic Areas of Schistosomiasis Prevalence].
Scleritis
A randomised double blind trial comparing the treatment of episcleritis with topical 2-(2-Hydroxy-4-methylphenyl) Aminothiazole Hydrochloride 0.1% (CBS 113A) and placebo.
Seizures
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Cerebellar atrophy in epileptic patients.
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
The art of magnesium transport.
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Seizures, Febrile
[Alteration of hydrogen sulfide/cystathionine-beta-synthase system in rats with recurrent febrile seizures]
[Gamma-aminobutyric acid B receptor regulates the expression of hydrogen sulfide / cystathionine-beta-synthase system in recurrent febrile seizures.]
Sepsis
Blood stream infections associated with central and peripheral venous catheters.
Effects of hydrogen sulfide on a rat model of sepsis-associated encephalopathy.
Hydrogen sulfide prevents diaphragm weakness in cecal ligation puncture-induced sepsis by preservation of mitochondrial function.
Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis.
Severe Combined Immunodeficiency
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Sinus Thrombosis, Intracranial
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Sleep Deprivation
What associates Charles Bonnet syndrome with age-related macular degeneration?
Sleep Initiation and Maintenance Disorders
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Sleep Wake Disorders
Treatment of typical Charles Bonnet syndrome with donepezil.
Small Cell Lung Carcinoma
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Smooth Muscle Tumor
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Spinal Cord Injuries
Psychometric properties of Persian version of the Caregiver Burden Scale in Iranian caregivers of patients with spinal cord injury.
Spinal Dysraphism
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
Squamous Cell Carcinoma of Head and Neck
Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.
Chemoradiation and local recurrence of head and neck squamous cell carcinoma and the risk of carotid artery blowout.
Evaluation of programmed death ligand 1 expression in cytology to determine eligibility for immune checkpoint inhibitor therapy in patients with head and neck squamous cell carcinoma.
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
Quantitative assessment of p16 expression in FNA specimens from head and neck squamous cell carcinoma and correlation with HPV status.
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
Stargardt Disease
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Starvation
Human CNNM2 is not a Mg(2+) transporter per se.
Immunocytochemical analysis of the coiled body in the cell cycle and during cell proliferation.
Physiological effects of nitrogen starvation in an anaerobic batch culture of Saccharomyces cerevisiae.
Stillbirth
Effectiveness of community-based support for pregnant women living with HIV: a cohort study in South Africa.
[Discrepancy between results of registration of perinatal cause of death by the CBS (Central Bureau of Statistics) and by personal studies in the Delft-Westland-Oostland region]
Stomach Neoplasms
An Anticancer Role of Hydrogen Sulfide in Human Gastric Cancer Cells.
Author Correction: Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Inhibition of endogenous hydrogen sulfide biosynthesis enhances the anti-cancer effect of 3,3'-diindolylmethane in human gastric cancer cells.
Low CBS expression can identify patients who benefit from adjuvant chemotherapy in gastric cancer.
Stomach Ulcer
A potential mechanism of action of colloidal bismuth subcitrate: diffusion barrier to hydrochloric acid.
Clinical indications and efficacy of colloidal bismuth subcitrate.
Colloidal bismuth subcitrate and ranitidine in the short-term treatment of benign gastric ulcer. An endoscopically controlled trial.
Colloidal bismuth subcitrate in peptic ulcer--a review.
Cure of peptic gastric ulcer associated with eradication of Helicobacter pylori. Finnish Gastric Ulcer Study Group.
Stroke
A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.
A novel multilocus genotyping assay to identify genetic predictors of stroke in sickle cell anaemia.
An autopsy-proven case of Corticobasal degeneration heralded by Pontine infarction.
Behavioral Assessment of Unilateral Spatial Neglect with the Catherine Bergego Scale (CBS) Using the Kessler Foundation Neglect Assessment Process (KF-NAP) in Patients with Subacute Stroke during Rehabilitation in Japan.
Cannabinoids in experimental stroke: a systematic review and meta-analysis.
Carotid Blowout Management in the Endovascular Era.
CBS promoter hypermethylation increases the risk of hypertension and stroke.
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Cystathionine ?-synthase inhibition is a potential therapeutic approach to treatment of ischemic injury.
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Cystathionine beta-synthase T833C/844ins68 polymorphism and stroke.
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
Eyetracking during free visual exploration detects neglect more reliably than paper-pencil tests.
How We Assess Spatial Neglect Matters: Prevalence of Spatial Neglect as Measured by the Catherine Bergego Scale and Impact on Rehabilitation Outcomes.
Hydrogen-rich saline ameliorates hippocampal neuron apoptosis through up-regulating the expression of cystathionine ?-synthase (CBS) after cerebral ischemia- reperfusion in rats.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Middle cerebral artery thrombus susceptibility-weighted imaging mapping predicts prognosis.
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Preliminary experience with endovascular reconstruction for the management of carotid blowout syndrome.
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Right as well as left unilateral spatial neglect influences rehabilitation outcomes and its recovery is important for determining discharge destination in subacute stroke patients.
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
The association of Cystathionine ? Synthase (CBS) T833C polymorphism and the risk of stroke: a meta-analysis.
The CBV-ASPECT Score as a predictor of fatal stroke in a hyperacute state.
The clot burden score, the Boston Acute Stroke Imaging Scale, the cerebral blood volume ASPECTS, and two novel imaging parameters in the prediction of clinical outcome of ischemic stroke patients receiving intravenous thrombolytic therapy.
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
Validation of the Catherine Bergego Scale in patients with unilateral spatial neglect after stroke.
[Relationship between polymorphisms of cystathionine beta-synthase gene and stroke]
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase.]
[Visual hallucinations: the Charles Bonnet syndrome]
Stuttering
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Subarachnoid Hemorrhage
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Gain-of-function polymorphisms of cystathionine ?-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Superinfection
[Cutaneous fissures in collodion babies: incidence and treatment]
Supranuclear Palsy, Progressive
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Caregiver strain in progressive supranuclear palsy and corticobasal syndromes.
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Corticobasal degeneration and corticobasal syndrome: A review.
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Corticobasal syndrome: Five new things.
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes.
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Tau immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.
[Corticobasal syndrome: recent advances and future directions].
[Criteria for the diagnosis of corticobasal degeneration].
[Neuroimaging in corticobasal syndrome].
[Pathology of corticobasal syndrome].
[The genetics of corticobasal syndrome].
Surgical Wound Infection
Prevention and Treatment of Life-Threatening Bleeding After Thyroid Surgery.
Tauopathies
Corticobasal syndrome: Five new things.
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Post mortem cerebrospinal fluid ?-synuclein levels are raised in multiple system atrophy and distinguish this from the other ?-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies.
Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations.
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Tetanus
Ultraslow myosin molecular motors of placental contractile stem villi in humans.
Tetany
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Thalassemia
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Thrombocytopenia
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.
Thromboembolism
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease.
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
[Cystathionine betasynthase and MTHFR deficiencies in adults]
Thrombophilia
Combination of thrombophilia markers in acute myocardial infarction of the young.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Thrombosis
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus.
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Hereditary thrombophilia in ethnic omani patients.
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine.
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Middle cerebral artery thrombus susceptibility-weighted imaging mapping predicts prognosis.
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Paradoxical absence of a prothrombotic phenotype in a mouse model of severe hyperhomocysteinemia.
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Search for genetic factors favoring thrombosis in Turkish population.
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.
Thrombus Imaging Characteristics and Outcomes in Acute Ischemic Stroke Patients Undergoing Endovascular Treatment.
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Thyroid Neoplasms
Cystathione ?-Synthase Is Increased in Thyroid Malignancies.
Exogenous Hydrogen Sulfide Regulates the Growth of Human Thyroid Carcinoma Cells.
Toxoplasmosis
Cystathionine ?-synthase is involved in cysteine biosynthesis and H2S generation in Toxoplasma gondii.
Transfusion-Related Acute Lung Injury
Blood donors implicated in transfusion-related acute lung injury with patient-specific HLA antibodies are more broadly sensitized to HLA antigens compared to other blood donors.
Transfusion-related lung injury in children: a case series and review of the literature.
Tremor
Serial 18F-FP-CIT and FDG PET in Fulminant Corticobasal Syndrome.
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Tuberculoma
Corticobasal syndrome due to a thalamic tuberculoma and focal cortical atrophy.
Tuberculosis
Structure-Guided Design of Novel Thiazolidine Inhibitors of O-Acetyl Serine Sulfhydrylase from Mycobacterium tuberculosis.
The 7H11 Agar Medium Supplemented with Calf Bovine Serum for Susceptibility Testing of Mycobacterium tuberculosis Isolates Against Pyrazinamide.
Tyrosinemias
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Ureteral Obstruction
[Change in plasma H2S level and therapeutic effect of H2S supplementation in tubulointerstitial fibrosis among rats with unilateral ureteral obstruction].
Urinary Incontinence
Mental illness and physical health in older people.
Urogenital Neoplasms
Antitumor Profile of Carbon-Bridged Steroids (CBS) and Triterpenoids.
Uterine Cervical Neoplasms
Cell block as an adjunct to conventional Papanicolaou smear for diagnosis of cervical cancer in resource-limited settings.
Uveitis
Capsular block syndrome: A case series.
Uveitis, Anterior
Angle-closure glaucoma secondary to inflammatory capsular block syndrome following routine cataract surgery.
Vaccine-Preventable Diseases
Community-based surveillance advances the Global Health Security Agenda in Ghana.
Vaginitis
[Genotyping of Vaginal Candida glabrata Isolates Using Microsatellite Marker Analysis and DNA Sequencing to Identify Mutations Associated with Antifungal Resistance].
Vascular Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.
Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease.
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
B vitamins and homocysteine in cardiovascular disease and aging.
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Charles Bonnet Syndrome as Another Cause of Visual Hallucinations.
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Cystathionine beta synthase modulates senescence of human endothelial cells.
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology.
Disorders of homocysteine metabolism.
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Hyperhomocysteinemia: an independent risk factor for vascular disease.
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
Oxidative stress and platelet activation in homozygous homocystinuria.
Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia.
The influence of genetic and environmental factors on plasma homocysteine concentrations in a population at high risk for coronary artery disease.
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
[Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease]
Venous Thromboembolism
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Venous Thrombosis
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease.
CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis.
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Edoxaban improves venous thrombosis via increasing hydrogen sulfide and homocysteine in rat model.
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Hereditary thrombophilia in ethnic omani patients.
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine ?-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis]
[Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis]
Ventricular Dysfunction, Left
Hyperhomocysteinemia abrogates fasting-induced cardioprotection against ischemia/reperfusion by limiting bioavailability of hydrogen sulfide anions.
[Different methods of myocardial revascularization in non-stable stenocardia]
Ventricular Premature Complexes
Carotid Baroreceptor Stimulation Prevents Arrhythmias Induced by Acute Myocardial Infarction through Autonomic Modulation.
Vesicular Stomatitis
Efficient bone marrow transduction by gene transfer with allogeneic umbilical cord blood serum and plasma: an implication for clinical trials.
Virus Diseases
The Role of Individual Carbohydrate-Binding Sites in the Function of the Potent Anti-HIV Lectin Griffithsin.
Vision Disorders
Charles Bonnet syndrome associated with a first attack of multiple sclerosis.
Escitalopram for antipsychotic nonresponsive visual hallucinosis: eight patients suffering from Charles Bonnet syndrome.
Hypermetabolism in the left thalamus and right inferior temporal area on positron emission tomography-statistical parametric mapping (PET-SPM) in a patient with Charles Bonnet syndrome resolving after treatment with valproic acid.
Multimodal Hallucinations in a Visually Impaired Elderly Female: Is it a Variant of Charles Bonnet Syndrome?
Visual Involvement in Corticobasal Syndrome.
[Charles Bonnet's Syndrome: Clinical Insights in a Fascinating Disease.]
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
Vision, Low
An examination of the relationship between low vision and Charles Bonnet syndrome.
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Prevalence of Charles Bonnet syndrome in patients with glaucoma: a systematic review with meta-analyses.
The rarity of Charles Bonnet syndrome.
Vision rehabilitation and charles bonnet syndrome.
Vitamin B 12 Deficiency
Charles Bonnet syndrome and vitamin B12 deficiency: a case report.
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Vitamin B 6 Deficiency
Multiple roles of haem in cystathionine ?-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.
[Deregulation of homocysteine metabolism and consequences for the vascular system]
Vitiligo
Estimation of Homocysteine Level and Methylenetetrahydrofolate Reductase (MTHFR) Gene and Cystathionine B Synthase (CBS) Gene Polymorphisms in Vitiligo Patients.
Evaluation of genotyping methods and costs for MTHFR, CBS and MTRR polymorphisms in patients with vitiligo.
High incidence of MTHFR, CBS, and MTRR polymorphisms in vitiligo patients. Preliminary report in a retrospective study.
Whooping Cough
Critical assessment of the platelet adenylate cyclase system as a potential model for testing alpha 2 adrenergic activity.