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Disease on EC 3.1.4.1 - phosphodiesterase I

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma, Follicular
Intracellular localization of the PDE4A cAMP-specific phosphodiesterase splice variant RD1 (RNPDE4A1A) in stably transfected human thyroid carcinoma FTC cell lines.
Alzheimer Disease
Hippocampal Sclerosis in the Elderly: Genetic and Pathologic Findings, Some Mimicking AlzheimerDisease Clinically.
Anemia
Association between ENPP1 K173Q and stroke in a newborn cohort of 395 Brazilian children with sickle cell anemia.
Anemia, Sickle Cell
Association between ENPP1 K173Q and stroke in a newborn cohort of 395 Brazilian children with sickle cell anemia.
Aneurysm
Cyclic nucleotide phosphodiesterase 1C contributes to abdominal aortic aneurysm.
Angioid Streaks
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Ankylosis
A new Enpp1 allele, Enpp1(ttw-Ham), identified in an ICR closed colony.
Ablation of Pyrophosphate Regulators Promotes Periodontal Regeneration.
Analysis of meniscal degeneration and meniscal gene expression.
Antagonistic interactions between osterix and pyrophosphate during cementum formation.
Apoptotic bodies from endplate chondrocytes enhance the oxidative stress-induced mineralization by regulating PPi metabolism.
Basic fibroblast growth factor regulates phosphate/pyrophosphate regulatory genes in stem cells isolated from human exfoliated deciduous teeth.
Correction of Hypophosphatasia (Hpp) Associated Mineralization Deficiencies In vitro by Phosphate/Pyrophosphate Modulation in Periodontal Ligament Cells.
Donor's age and replicative senescence favour the in-vitro mineralization potential of human fibroblasts.
Genetic and pharmacologic modulation of cementogenesis via pyrophosphate regulators.
Genetically Modified Mice for Studying TNAP Function.
Inorganic polyphosphate induces osteoblastic differentiation.
Morphological and biochemical features of obesity are associated with mineralization genes' polymorphisms.
Osteoblast extracellular Ca2+ -sensing receptor regulates bone development, mineralization, and turnover.
The Progressive Ankylosis Protein Regulates Cementum Apposition and Extracellular Matrix Composition.
Aortic Aneurysm, Abdominal
Cyclic nucleotide phosphodiesterase 1C contributes to abdominal aortic aneurysm.
Arteriosclerosis
Enpp1 is an anti-aging factor that regulates Klotho under phosphate overload conditions.
Arthralgia
ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.
Bone Diseases
Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).
Bone Diseases, Metabolic
New Variants in Enpp1 and Ptpn6 Genes Cause Low Bone Density, Crystal-Related Arthropathy and Vascular Calcification.
Bone Neoplasms
Determination of phosphodiesterase I activity in human blood serum.
Bone Resorption
Vitamin D Receptor Mediates a Myriad of Biological Actions Dependent on Its 1,25-Dihydroxyvitamin D Ligand: Distinct Regulatory Themes Revealed by Induction of Klotho and Fibroblast Growth Factor-23.
Brain Neoplasms
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Breast Neoplasms
Determination of phosphodiesterase I activity in human blood serum.
Development of an ENPP1 fluorescence probe for inhibitor screening, cellular imaging and prognostic assessment of malignant breast cancer.
Enpp1: a potential facilitator of breast cancer bone metastasis.
High Expression of Three-Gene Signature Improves Prediction of Relapse-Free Survival in Estrogen Receptor-Positive and Node-Positive Breast Tumors.
Identification of gene expression signature in estrogen receptor positive breast carcinoma.
Loss of microRNA-27b contributes to breast cancer stem cell generation by activating ENPP1.
Serum phosphodiesterase I activity in breast cancer patients.
Structure-Aided Development of Small-Molecule Inhibitors of ENPP1, the Extracellular Phosphodiesterase of the Immunotransmitter cGAMP.
Calcinosis
Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.
Carcinogenesis
Presence of N2-(deoxyguanosin-8-yl)-2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (dG-C8-MeIQx) in human tissues.
Carcinoma
A nucleotide phosphodiesterase with preference for 2',5'-phosphodiester bonds from Ehrlich ascites carcinoma.
Antimetastatic Activity of Combined Topotecan and Tyrosyl-DNA Phosphodiesterase-1 Inhibitor on Modeled Lewis Lung Carcinoma.
Expression of Genes for Methylxanthine Pathway-Associated Enzymes Accompanied by Sex Steroid Receptor Status Impacts Breast Carcinoma Progression.
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
Protein and enzyme content of plasma membranes derived from Walker 256 carcinoma cells grown as ascitic or solid tumours.
The significance of 5'-nucleotide phosphodiesterase isozymes in the diagnosis of liver carcinoma.
Carcinoma, Hepatocellular
Glucocorticoid hormones increase the activity of plasma membrane alkaline phosphodiesterase I in rat hepatoma cells.
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Preparation of plasma membranes from line 10 and line 1 guinea pig hepatomas.
The hepatic ectonucleotide pyrophosphatase/phosphodiesterase 1 gene mRNA abundance is reduced by insulin and induced by dexamethasone.
Carcinoma, Lewis Lung
Antimetastatic Activity of Combined Topotecan and Tyrosyl-DNA Phosphodiesterase-1 Inhibitor on Modeled Lewis Lung Carcinoma.
Carcinoma, Non-Small-Cell Lung
Correlation between topoisomerase I and tyrosyl-DNA phosphodiesterase 1 activities in non-small cell lung cancer tissue.
Carcinoma, Ovarian Epithelial
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
Cardiovascular Diseases
ENPP1 in the Regulation of Mineralization and Beyond.
The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients.
Carotid Artery Diseases
Genetic determinants and early carotid atherosclerosis: is there a role for the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP-1) K121Q polymorphism? Preliminary results in non diabetic individuals.
Cerebrovascular Disorders
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
Cholestasis, Extrahepatic
Usefulness of serum nucleotide pyrophosphatase and phosphodiesterase I activities in classifying liver disease.
Cholestasis, Intrahepatic
Pyometra in the dog--a pathophysiological investigation. V. The presence of intrahepatic cholestasis and an "acute phase reaction.".
Chondrocalcinosis
Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells. Regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta.
Highly potent and selective ectonucleotide pyrophosphatase/phosphodiesterase I inhibitors based on an adenosine 5'-(? or ?)-thio-(?,?- or ?,?)-methylenetriphosphate scaffold.
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis.
Synthesis of biphenyl oxazole derivatives via Suzuki coupling and biological evaluations as nucleotide pyrophosphatase/phosphodiesterase-1 and -3 inhibitors.
Congenital Abnormalities
Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities.
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.
Coronary Artery Disease
ENPP1 121Q functional variant enhances susceptibility to coronary artery disease in South Indian patients with type 2 diabetes mellitus.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
Evaluation of NPP1 as a Novel Biomarker of Coronary Artery Disease: A Pilot Study in Human Beings.
Coronary Disease
ENPP1 K121Q (rs1044498?C?>?A) genetic polymorphism confers a high risk of susceptibility to coronary heart disease: A PRISMA-compliant article.
Cryptorchidism
Surgically induced cryptorchidism-related degenerative changes in spermatogonia are associated with loss of cyclic adenosine monophosphate-dependent phosphodiesterases type 4 in abdominal testes of rats.
Cystadenoma, Serous
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
Cysts
Analysis of the ectoenzymes ADA, ALP, ENPP1, and ENPP3, in the contents of ovarian endometriomas as candidate biomarkers of endometriosis.
Deafness
Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation.
Dementia
Hippocampal Sclerosis in the Elderly: Genetic and Pathologic Findings, Some Mimicking AlzheimerDisease Clinically.
Dentofacial Deformities
ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.
Diabetes Complications
The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications.
Diabetes Mellitus
An observational study of the risk of neonatal macrosomia, and early gestational diabetes associated with selected candidate genes for type 2 diabetes mellitus polymorphisms in women with gestational diabetes mellitus.
Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population.
ENPP1 121Q functional variant enhances susceptibility to coronary artery disease in South Indian patients with type 2 diabetes mellitus.
ENPP1 K121Q Genotype Not Associated with Coronary Artery Calcification in Korean Patients with Type 2 Diabetes Mellitus.
ENPP1 K121Q polymorphism and type 2 diabetes mellitus in the Chinese population: a meta-analysis including 11 855 subjects.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
Hepatic ENPP1 expression is induced in diabetic rabbits.
Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus.
Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.
The K121Q polymorphism of ENPP1 and peripheral arterial disease.
The K121Q polymorphism of the plasma cell glycoprotein-1 gene is not associated with diabetes mellitus type 2 in German Caucasians.
The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications.
[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients]
[The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population].
[The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population].
Diabetes Mellitus, Type 1
Hepatic ENPP1 expression is induced in diabetic rabbits.
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
Diabetes Mellitus, Type 2
An observational study of the risk of neonatal macrosomia, and early gestational diabetes associated with selected candidate genes for type 2 diabetes mellitus polymorphisms in women with gestational diabetes mellitus.
Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population.
Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPAR{gamma} and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes.
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
Association of the ENPP1 K121Q polymorphism with susceptibility to type 2 diabetes in different populations: evidence based on 40 studies.
Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.
Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.
Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weight change and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPAR?, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs.
Contribution of ENPP1, TCF7L2, and FTO polymorphisms to type 2 diabetes in mixed ancestry ethnic population of South Africa.
Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population.
Editorial: The pleiotropic effect of the ENPP1 (PC-1) gene on insulin resistance, obesity, and type 2 diabetes.
ENPP1 121Q functional variant enhances susceptibility to coronary artery disease in South Indian patients with type 2 diabetes mellitus.
ENPP1 gene, insulin resistance and related clinical outcomes.
ENPP1 K121Q Genotype Not Associated with Coronary Artery Calcification in Korean Patients with Type 2 Diabetes Mellitus.
ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.
ENPP1 K121Q polymorphism and type 2 diabetes mellitus in the Chinese population: a meta-analysis including 11 855 subjects.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians.
ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes.
Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort.
Evaluation of the ENPP1 and PLIN single nucleotide polymorphisms with type 2 diabetes in a Taiwanese population: evidence for replication and gene-gene interaction.
Further Evidence For the Role of ENPP1 in Obesity: Association With Morbid Obesity in Finns.
Gender differences in the association of ENPP1 polymorphisms with type 2 diabetes in a Chinese population.
Genetic determinants of type 2 diabetes mellitus.
Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Hepatic ENPP1 expression is induced in diabetic rabbits.
Highly potent and selective ectonucleotide pyrophosphatase/phosphodiesterase I inhibitors based on an adenosine 5'-(? or ?)-thio-(?,?- or ?,?)-methylenetriphosphate scaffold.
Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.
Is common genetic variation at IRS1, ENPP1 and TRIB3 loci associated with cardiometabolic phenotypes in type 2 diabetes? An exploratory analysis of the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 5.
Liver ENPP1 protein increases with remission of type 2 diabetes after gastric bypass surgery.
New polymorphism of ENPP1 (PC-1) is associated with increased risk of type 2 diabetes among obese individuals.
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.
No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians.
Reversal of increased lymphocyte PC-1 activity in patients with type 2 diabetes treated with metformin.
Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.
Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.
Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.
Synthesis of biphenyl oxazole derivatives via Suzuki coupling and biological evaluations as nucleotide pyrophosphatase/phosphodiesterase-1 and -3 inhibitors.
The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.
The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention.
The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.
The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects.
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes and related metabolic traits in an Iranian population.
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes in northern Chinese.
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
The ENPP1 K121Q polymorphism modulates developing of bone disorders in type 2 diabetes: A cross sectional study.
The K121Q polymorphism in ENPP1 (PC-1) is not associated with type 2 diabetes or obesity in Korean male workers.
The K121Q polymorphism of ENPP1 and peripheral arterial disease.
Three-allele risk haplotype of ENPP1 links obesity to type 2 diabetes risk.
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.
Variants of insulin-signaling inhibitor genes in type 2 diabetes and related metabolic abnormalities.
[Association and meta-analysis of ENPP1 K121Q with type 2 diabetes in Han Chinese.]
[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients]
[ENPP1, the first example of common genetic link between childhood and adult obesity and type 2 diabetes.]
[The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population].
[The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population].
Diabetes, Gestational
An observational study of the risk of neonatal macrosomia, and early gestational diabetes associated with selected candidate genes for type 2 diabetes mellitus polymorphisms in women with gestational diabetes mellitus.
Body mass index associated to rs2021966 ENPP1 polymorphism increases the risk for gestational diabetes mellitus.
Diabetic Nephropathies
Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPAR{gamma} and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes.
Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: a systematic review and meta-analysis.
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population.
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
The role of ecto-nucleotide pyrophosphatase/phosphodiesterase 1 in diabetic nephropathy.
Diabetic Retinopathy
Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.
Dyslipidemias
Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population.
Embolism
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Endometriosis
Analysis of the ectoenzymes ADA, ALP, ENPP1, and ENPP3, in the contents of ovarian endometriomas as candidate biomarkers of endometriosis.
Enthesopathy
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
Ependymoma
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Erectile Dysfunction
[Bladder and cavernous contractility and relaxation among intracellular messengers, changes in sarcoplasmatic free calcium and phosphodiesterase activity]
Familial Hypophosphatemic Rickets
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
Fatty Liver
Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
Metabolic consequences of ENPP1 over-expression in adipose tissue.
Fibrous Dysplasia, Polyostotic
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
Frontotemporal Lobar Degeneration
Hippocampal Sclerosis in the Elderly: Genetic and Pathologic Findings, Some Mimicking AlzheimerDisease Clinically.
Genetic Diseases, Inborn
Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.
Cole Disease Results from Mutations in ENPP1.
New insights into NPP1 function: Lessons from clinical and animal studies.
Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.
Glioblastoma
Characterization of inhibitors of phosphodiesterase 1C on a human cellular system.
Dehydroabietylamine Ureas and Thioureas as Tyrosyl-DNA Phosphodiesterase 1 Inhibitors That Enhance the Antitumor Effect of Temozolomide on Glioblastoma Cells.
Development of an ENPP1 fluorescence probe for inhibitor screening, cellular imaging and prognostic assessment of malignant breast cancer.
Functional characterization of ENPP1 reveals a link between cell cycle progression and stem-like phenotype in glioblastoma.
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Tyrosyl-DNA Phosphodiesterase 1 and Topoisomerase I Activities as Predictive Indicators for Glioblastoma Susceptibility to Genotoxic Agents.
Glioma
Agonists of the P2Y(AC)-receptor activate MAP kinase by a ras-independent pathway in rat C6 glioma.
Cyclic AMP-dependent down regulation of ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (NPP1) in rat C6 glioma.
Ecto-nucleotide pyrophosphatase modulates the purinoceptor-mediated signal transduction and is inhibited by purinoceptor antagonists.
gp130RB13-6-positive neural progenitor cells are susceptible to the oncogenic effect of ethylnitrosourea in pre-natal rat brain.
NO-induced activation of cyclic GMP-dependent pathway down regulates ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (NPP1) protein in rat C6 glioma.
Glucose Intolerance
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.
Hearing Loss
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation.
Hearing Loss, Conductive
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation.
Hearing Loss, Mixed Conductive-Sensorineural
Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation.
Heart Failure
Effects of 5'-phosphodiesterase four-week long inhibition with sildenafil in patients with chronic heart failure: a double-blind, placebo-controlled clinical trial.
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy (GACI).
Hematologic Neoplasms
PDE4 subtypes in cancer.
Hepatitis
Nucleotide pyrophosphatase and phosphodiesterase I. Demonstration of activity in normal serum, and an increase in cholestatic liver disease.
Hepatitis C
Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan.
Hepatitis, Chronic
Nucleotide pyrophosphatase and phosphodiesterase I. Demonstration of activity in normal serum, and an increase in cholestatic liver disease.
Hydrops Fetalis
Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.
Hypercementosis
Hypercementosis Associated with ENPP1 Mutations and GACI.
Reduced Orthodontic Tooth Movement in Enpp1 Mutant Mice with Hypercementosis.
Hyperglycemia
Adipose Tissue Insulin Resistance in Gestational Diabetes.
Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Hyperlipidemias
Metabolic consequences of ENPP1 over-expression in adipose tissue.
Hyperparathyroidism, Primary
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
Hyperpigmentation
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Hypersensitivity
TDP1 deficiency sensitizes human cells to base damage via distinct topoisomerase I and PARP mechanisms with potential applications for cancer therapy.
Hypertension
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy (GACI).
[Treatment of systemic sclerosis].
Hypertension, Pulmonary
Effects of 5'-phosphodiesterase four-week long inhibition with sildenafil in patients with chronic heart failure: a double-blind, placebo-controlled clinical trial.
Hypertrophy, Left Ventricular
Insulin resistance and left ventricular hypertrophy in end-stage renal disease: association between the ENPP1 gene and left ventricular concentric remodelling.
Tissue inhibitor of metalloproteinases (TIMP-1), genetic markers of insulin resistance and cardiomyopathy in patients with kidney failure.
[Study on the association between gene polymorphism of ENPP1 and left ventricular hypertrophy: A Guangzhou Biobank Cohort Study-CVD.]
Hypophosphatasia
Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice.
Hypophosphatemia
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Insights into dental mineralization from three heritable mineralization disorders.
Hypophosphatemia, Familial
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Hypopigmentation
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Infections
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan.
Maintenance of cyclic GMP-AMP homeostasis by ENPP1 is involved in pseudorabies virus infection.
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
The effects of increased cAMP content on inflammation, oxidative stress and PDE4 transcripts during Brucella melitensis infection.
White matter damage and chemokine induction in developing rat brain after intrauterine infection.
Infertility
Reduction in the intracellular cAMP level triggers initiation of sexual development in fission yeast.
Insulin Resistance
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
A Polymorphism in the Gene Encoding the Insulin Receptor Binding Protein ENPP-1 Is Associated with Decreased Glomerular Filtration Rate in an Under-Investigated Indigenous African Population.
Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome.
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.
Characterization of Monoclonal Antibodies to the Plasma Cell Alloantigen ENPP1.
Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling.
Development of an ENPP1 fluorescence probe for inhibitor screening, cellular imaging and prognostic assessment of malignant breast cancer.
Editorial: The pleiotropic effect of the ENPP1 (PC-1) gene on insulin resistance, obesity, and type 2 diabetes.
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
Elevated plasma cell membrane glycoprotein levels and diminished insulin receptor autophosphorylation in obese, insulin-resistant rhesus monkeys.
ENPP1 affects insulin action and secretion: evidences from in vitro studies.
ENPP1 gene, insulin resistance and related clinical outcomes.
ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
ENPP1 Q121 variant, increased pulse pressure and reduced insulin signaling, and nitric oxide synthase activity in endothelial cells.
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children.
Expression of membrane-bound NPP-type ecto-phosphodiesterases in rat podocytes cultured at normal and high glucose concentrations.
Gender differences in the association of ENPP1 polymorphisms with type 2 diabetes in a Chinese population.
Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.
Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Hepatic ENPP1 expression is induced in diabetic rabbits.
Impact of ENPP1 K121Q on change of insulin resistance after web-based intervention in Korean men with diabetes and impaired fasting glucose.
Influence of Single Nucleotide Polymorphism of ENPP1 and ADIPOQ on Insulin Resistance and Obesity: A Case-Control Study in a Javanese Population.
Insulin resistance and left ventricular hypertrophy in end-stage renal disease: association between the ENPP1 gene and left ventricular concentric remodelling.
Insulin signaling regulating genes: effect on T2DM and cardiovascular risk.
Is common genetic variation at IRS1, ENPP1 and TRIB3 loci associated with cardiometabolic phenotypes in type 2 diabetes? An exploratory analysis of the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 5.
K121Q PC-1 gene polymorphism is not associated with insulin resistance in a Spanish population.
Liver ENPP1 protein increases with remission of type 2 diabetes after gastric bypass surgery.
Metabolic consequences of ENPP1 over-expression in adipose tissue.
New Insights into the Role of ENPP1 in Insulin Resistance.
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.
Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus.
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
Reversal of increased lymphocyte PC-1 activity in patients with type 2 diabetes treated with metformin.
Role of ENPP1 on adipocyte maturation.
Role of GALNT2 in the modulation of ENPP1 expression, and insulin signaling and action: GALNT2: A novel modulator of insulin signaling.
Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.
The ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K121Q polymorphism modulates the beneficial effect of weight loss on fasting glucose in non-diabetic individuals.
The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention.
The K121Q polymorphism in ENPP1 (PC-1) is not associated with type 2 diabetes or obesity in Korean male workers.
The K121Q polymorphism in the plasma cell membrane glycoprotein 1 gene predisposes to early myocardial infarction.
The role of ecto-nucleotide pyrophosphatase/phosphodiesterase 1 in diabetic nephropathy.
The role of HSP70 on ENPP1 expression and insulin-receptor activation.
Tissue inhibitor of metalloproteinases (TIMP-1), genetic markers of insulin resistance and cardiomyopathy in patients with kidney failure.
Uric Acid Impairs Insulin Signaling by Promoting Enpp1 Binding to Insulin Receptor in Human Umbilical Vein Endothelial Cells.
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.
[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients]
[The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population].
[The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population].
Insulinoma
The calcium/calmodulin-dependent phosphodiesterase PDE1C down-regulates glucose-induced insulin secretion.
Joint Diseases
New Variants in Enpp1 and Ptpn6 Genes Cause Low Bone Density, Crystal-Related Arthropathy and Vascular Calcification.
Keratoderma, Palmoplantar
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Kidney Failure, Chronic
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
Insulin resistance and left ventricular hypertrophy in end-stage renal disease: association between the ENPP1 gene and left ventricular concentric remodelling.
Levels of serum ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) predicts severity of abdominal aortic calcification in end-stage renal disease patients receiving regular dialysis.
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
Lewy Body Disease
Hippocampal Sclerosis in the Elderly: Genetic and Pathologic Findings, Some Mimicking AlzheimerDisease Clinically.
Liver Cirrhosis
Determination of phosphodiesterase I activity in human blood serum.
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Liver Cirrhosis, Biliary
Nucleotide pyrophosphatase and phosphodiesterase I. Demonstration of activity in normal serum, and an increase in cholestatic liver disease.
Liver Diseases
Nucleotide pyrophosphatase and phosphodiesterase I. Demonstration of activity in normal serum, and an increase in cholestatic liver disease.
Usefulness of serum nucleotide pyrophosphatase and phosphodiesterase I activities in classifying liver disease.
Liver Neoplasms
The significance of new abnormal isoenzymes of 5'-nucleotide phosphodiesterase in the diagnosis of human liver cancer.
Liver Neoplasms, Experimental
Intracellular distribution of 5'-ribonuclease and 5'-phosphodiesterase in the Novikoff hepatoma ascites cells.
Lung Neoplasms
Correlation between topoisomerase I and tyrosyl-DNA phosphodiesterase 1 activities in non-small cell lung cancer tissue.
Determination of phosphodiesterase I activity in human blood serum.
Dysregulated ENPP1 increases the malignancy of human lung cancer by inducing epithelial-mesenchymal transition phenotypes and stem cell features.
PDE4 subtypes in cancer.
Phosphodiesterase-4 promotes proliferation and angiogenesis of lung cancer by crosstalk with HIF.
Lupus Nephritis
The Topoisomerase I Inhibitor Irinotecan and the Tyrosyl-DNA Phosphodiesterase 1 Inhibitor Furamidine Synergistically Suppress Murine Lupus Nephritis.
Malocclusion
ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.
Medulloblastoma
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Meningioma
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Metabolic Syndrome
Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome.
Association of genetic variation in ENPP1 with obesity-related phenotypes.
Association of K121Q Polymorphism in Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 with Clinical Characteristics of Metabolic Syndrom.
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
Metabolic consequences of ENPP1 over-expression in adipose tissue.
[The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population].
Mouth Neoplasms
Metabolic Regulation of Glycolysis and AMP Activated Protein Kinase Pathways during Black Raspberry-Mediated Oral Cancer Chemoprevention.
MicroRNA-133 Targets Phosphodiesterase 1C in Drosophila and Human Oral Cancer Cells to Regulate Epithelial-Mesenchymal Transition.
Myalgia
ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.
Myocardial Infarction
Association of Genetic Variants of MTHFR, ENPP1, and ADIPOQ with Myocardial Infarction in Egyptian Patients.
Determination of phosphodiesterase I activity in human blood serum.
ENPP1 K121Q polymorphism is not related to type 2 diabetes mellitus, features of metabolic syndrome, and diabetic cardiovascular complications in a Chinese population.
The K121Q polymorphism in the plasma cell membrane glycoprotein 1 gene predisposes to early myocardial infarction.
Myocardial Ischemia
[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients]
Myringosclerosis
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Neoplasm Metastasis
Enpp1: a potential facilitator of breast cancer bone metastasis.
Metastasis and Immune Evasion from Extracellular cGAMP Hydrolysis.
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Neoplasms
5'-Nucleotide phosphodiesterase and alkaline phosphatase in tumor cells: evidence for existence of novel species in the cytosol.
A novel tumor-associated molecular species of 5'-nucleotide phosphodiesterase.
A nucleotide phosphodiesterase with preference for 2',5'-phosphodiester bonds from Ehrlich ascites carcinoma.
Affinity purification and cDNA cloning of rat neural differentiation and tumor cell surface antigen gp130RB13-6 reveals relationship to human and murine PC-1.
Association of K121Q polymorphism in ENPP1 (PC-1) with BMI in Caucasian and African-American adults.
Autotaxin, tumor motility-stimulating exophosphodiesterase.
Characterization of a new plasma membrane-associated ecto-5'-phosphodiesterase/nucleotide-pyrophosphatase from rat hepatocarcinoma AS-30D cells.
Cloning, chromosomal localization, and tissue expression of autotaxin from human teratocarcinoma cells.
Crystal structures of human ENPP1 in apo and bound forms.
Design and Synthesis of Chlorinated and Fluorinated 7-Azaindenoisoquinolines as Potent Cytotoxic Anticancer Agents That Inhibit Topoisomerase I.
Design, synthesis, and biological evaluation of O-2-modified indenoisoquinolines as dual topoisomerase I-tyrosyl-DNA phosphodiesterase I inhibitors.
Development of a High-Throughput Assay to Identify Inhibitors of ENPP1.
Development of an ENPP1 fluorescence probe for inhibitor screening, cellular imaging and prognostic assessment of malignant breast cancer.
Dysregulated ENPP1 increases the malignancy of human lung cancer by inducing epithelial-mesenchymal transition phenotypes and stem cell features.
Effect of Pterostilbene, a Natural Derivative of Resveratrol, in the Treatment of Colorectal Cancer through Top1/Tdp1-Mediated DNA Repair Pathway.
ENPP1 in the Regulation of Mineralization and Beyond.
ENPP1, an Old Enzyme with New Functions, and Small Molecule Inhibitors-A STING in the Tale of ENPP1.
Enpp1: a potential facilitator of breast cancer bone metastasis.
Expression of Genes for Methylxanthine Pathway-Associated Enzymes Accompanied by Sex Steroid Receptor Status Impacts Breast Carcinoma Progression.
Extracellular cGAMP is a cancer cell-produced immunotransmitter involved in radiation-induced anti-cancer immunity.
Glycolipids and myelin proteins in human oligodendrogliomas.
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
Identification of a phosphodiesterase I/nucleotide pyrophosphatase-related gene mRNA in rat vascular smooth muscle cells by the differential display approach.
Identification of a putative Tdp1 inhibitor (CD00509) by in vitro and cell-based assays.
Identification of cell surface targets for CAR-T cell therapies and antibody-drug conjugates in breast cancer.
Incorporation of cis-dichlorobiscyclopentylamineplatinum (II) into liposomes enhances its uptake by ADJ/PC6A tumour cells: comparative effects of the free and liposome-incorporated drug on the cyclic 3'-5' nucleotide phosphodiesterase activity.
Metastasis and Immune Evasion from Extracellular cGAMP Hydrolysis.
Mining of RNA Methylation-Related Genes and Elucidation of Their Molecular Biology in Gallbladder Carcinoma.
New Hydrazinothiazole Derivatives of Usnic Acid as Potent Tdp1 Inhibitors.
Novel tyrosyl-DNA phosphodiesterase 1 inhibitors enhance the therapeutic impact of topote?an on in vivo tumor models.
Nucleases and adenosine 3',5'-cyclic monophosphate phosphodiesterase activities in murine sarcoma virus (Moloney)-infected mice.
PDE4 subtypes in cancer.
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Phosphodiesterase-4 promotes proliferation and angiogenesis of lung cancer by crosstalk with HIF.
Plasma membrane associated enzymes of mammary tumours as the biochemical indicators of metastasizing capacity. Analyses of enriched plasma membrane preparations.
Preclinical Studies of the Off-Target Reactivity of AFP158-Specific TCR Engineered T Cells.
Preparation of plasma membranes from line 10 and line 1 guinea pig hepatomas.
Protein and enzyme content of plasma membranes derived from Walker 256 carcinoma cells grown as ascitic or solid tumours.
Re-awakening Innate Immune Signaling in Cancer: The Development of Highly Potent ENPP1 Inhibitors.
Recifin A, Initial Example of the Tyr-Lock Peptide Structural Family, Is a Selective Allosteric Inhibitor of Tyrosyl-DNA Phosphodiesterase I.
Role of tyrosyl-DNA phosphodiesterase 1 and inter-players in regulation of tumor cell sensitivity to topoisomerase I inhibition.
Rolipram optimizes therapeutic effect of bevacizumab by enhancing proapoptotic, antiproliferative signals in a glioblastoma heterotopic model.
Structure-Aided Development of Small-Molecule Inhibitors of ENPP1, the Extracellular Phosphodiesterase of the Immunotransmitter cGAMP.
Synthesis of biphenyl oxazole derivatives via Suzuki coupling and biological evaluations as nucleotide pyrophosphatase/phosphodiesterase-1 and -3 inhibitors.
Synthesis of Methoxy-, Methylenedioxy-, Hydroxy-, and Halo-Substituted Benzophenanthridinone Derivatives as DNA Topoisomerase IB (TOP1) and Tyrosyl-DNA Phosphodiesterase 1 (TDP1) Inhibitors and Their Biological Activity for Drug-Resistant Cancer.
The expression of ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (E-NPP1) is correlated with astrocytic tumor grade.
The influence of an enamine usnic acid derivative (a tyrosyl-DNA phosphodiesterase 1 inhibitor) on the therapeutic effect of topotecan against transplanted tumors in vivo.
Nephrocalcinosis
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice.
Neuroblastoma
Induction of cyclic AMP and cyclic GMP 3':5'-cyclic nucleotide phosphodiesterase activities in neuroblastoma lines under differentiating conditions.
Neurodegenerative Diseases
A human 5'-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage.
Nevus
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
Non-alcoholic Fatty Liver Disease
Genetic variants regulating insulin receptor signalling are associated with the severity of liver damage in patients with non-alcoholic fatty liver disease.
Obesity
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
An integrative systems genetics approach reveals potential causal genes and pathways related to obesity.
Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.
Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome.
Association of genetic variation in ENPP1 with obesity-related phenotypes.
Association of K121Q polymorphism in ENPP1 (PC-1) with BMI in Caucasian and African-American adults.
Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.
Association of the ENPP1 rs997509 polymorphism with obesity in South African mixed ancestry learners.
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population.
Editorial: The pleiotropic effect of the ENPP1 (PC-1) gene on insulin resistance, obesity, and type 2 diabetes.
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children.
ENPP1/PC-1 gene K121Q polymorphism is associated with obesity in European adult populations: evidence from a meta-analysis involving 24,324 subjects.
Further Evidence For the Role of ENPP1 in Obesity: Association With Morbid Obesity in Finns.
Hepatic ENPP1 expression is induced in diabetic rabbits.
Influence of Single Nucleotide Polymorphism of ENPP1 and ADIPOQ on Insulin Resistance and Obesity: A Case-Control Study in a Javanese Population.
MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.
Morphological and biochemical features of obesity are associated with mineralization genes' polymorphisms.
New polymorphism of ENPP1 (PC-1) is associated with increased risk of type 2 diabetes among obese individuals.
No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians.
Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus.
Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.
Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.
The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients.
The K121Q polymorphism in ENPP1 (PC-1) is not associated with type 2 diabetes or obesity in Korean male workers.
The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population.
Three-allele risk haplotype of ENPP1 links obesity to type 2 diabetes risk.
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.
[ENPP1, the first example of common genetic link between childhood and adult obesity and type 2 diabetes.]
[The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population].
Obesity, Morbid
Further Evidence For the Role of ENPP1 in Obesity: Association With Morbid Obesity in Finns.
Oligodendroglioma
Targeted inhibition of cyclic AMP phosphodiesterase-4 promotes brain tumor regression.
Ossification of Posterior Longitudinal Ligament
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.
Osteoarthritis
Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Crystals in hand.
ENPP1 in the Regulation of Mineralization and Beyond.
Highly potent and selective ectonucleotide pyrophosphatase/phosphodiesterase I inhibitors based on an adenosine 5'-(? or ?)-thio-(?,?- or ?,?)-methylenetriphosphate scaffold.
Synthesis of biphenyl oxazole derivatives via Suzuki coupling and biological evaluations as nucleotide pyrophosphatase/phosphodiesterase-1 and -3 inhibitors.
Osteomalacia
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
Osteoporosis
Enpp1 is an anti-aging factor that regulates Klotho under phosphate overload conditions.
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Osteosarcoma
Expression of the nucleoside triphosphate pyrophosphohydrolase PC-1 is induced by basic fibroblast growth factor (bFGF) and modulated by activation of the protein kinase A and C pathways in osteoblast-like osteosarcoma cells.
Otitis
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Otitis Media
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Otitis Media with Effusion
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Ovarian Cysts
Analysis of the ectoenzymes ADA, ALP, ENPP1, and ENPP3, in the contents of ovarian endometriomas as candidate biomarkers of endometriosis.
Ovarian Neoplasms
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
Overweight
MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.
The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population.
Pediatric Obesity
Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity.
The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population.
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.
[ENPP1, the first example of common genetic link between childhood and adult obesity and type 2 diabetes.]
Peripheral Arterial Disease
The K121Q polymorphism of ENPP1 and peripheral arterial disease.
Peripheral Nervous System Diseases
TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo.
Peritonitis
Generalized Arterial Calcification of Infancy Associated with Meconium Peritonitis: A Case Report and Review of the Literature.
phosphodiesterase i deficiency
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Enpp1 inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling.
ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP.
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.
Mono-allelic and bi-allelic ENPP1 deficiency promote post-injury neointimal hyperplasia associated with increased C/EBP homologous protein expression.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Vascular calcification is dependent on plasma levels of pyrophosphate.
Plasmacytoma
Identification of nucleotide pyrophosphatase/alkaline phosphodiesterase I activity associated with the mouse plasma cell differentiation antigen PC-1.
Modulation of nucleotide pyrophosphatase in plasmacytoma cells.
Polycystic Ovary Syndrome
Association of the polymorphism of codon 121 in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene with polycystic ovary syndrome in Chinese women.
Polycystic ovary syndrome is associated with genetic polymorphism in the insulin signaling gene IRS-1 but not ENPP1 in a Japanese population.
The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome.
Pseudorabies
Maintenance of cyclic GMP-AMP homeostasis by ENPP1 is involved in pseudorabies virus infection.
Pseudoxanthoma Elasticum
Cellular signaling in pseudoxanthoma elasticum: an update.
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin.
Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations.
Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.
Homology Modeling and Virtual Screening of Proteins Related to PXE and PXE-like Diseases: Insights for Overlapping Metabolites.
Oral administration of pyrophosphate inhibits connective tissue calcification.
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
Pulmonary Arterial Hypertension
[Treatment of systemic sclerosis].
Renal Insufficiency
Tissue inhibitor of metalloproteinases (TIMP-1), genetic markers of insulin resistance and cardiomyopathy in patients with kidney failure.
Renal Insufficiency, Chronic
The bone-vascular axis in chronic kidney disease.
Rhabdomyosarcoma
Tyrosyl-DNA phosphodiesterase 1 (TDP1) and Poly (ADP-Ribose) Polymerase-1 (PARP1) deficiency are cytotoxic to rhabdomyosarcoma cells.
Rickets
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic rickets.
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Rickets, Hypophosphatemic
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
PHEX 3'-UTR c.*231A?>?G Near The Polyadenylation Signal Is A Relatively Common, Mild, American Mutation That Masquerades As Sporadic Or X-Linked Recessive Hypophosphatemia.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
Schistosomiasis
Discovery of novel Schistosoma mansoni PDE4A inhibitors as potential agents against schistosomiasis.
Seizures
Differential expression and regulation of the cAMP-selective phosphodiesterase type 4A splice variants in rat brain by chronic antidepressant administration.
Spinocerebellar Ataxias
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening.
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy.
Spinocerebellar ataxia with axonal neuropathy type 1 revisited.
TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo.
Spinocerebellar Degenerations
ATM deficiency results in accumulation of DNA-topoisomerase I covalent intermediates in neural cells.
Stroke
Association between ENPP1 K173Q and stroke in a newborn cohort of 395 Brazilian children with sickle cell anemia.
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia.
Genetic mapping and exome sequencing identify two mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Temporomandibular Joint Disorders
ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.
ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.
Teratocarcinoma
Cloning, chromosomal localization, and tissue expression of autotaxin from human teratocarcinoma cells.
Thrombocytopenia
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Thrombosis
PDE4a predicts poor prognosis and promotes metastasis by inducing epithelial-mesenchymal transition in hepatocellular carcinoma.
Tourette Syndrome
Association of tyrosyl-DNA phosphodiesterase 1 polymorphism with Tourette syndrome in Taiwanese patients.
Triple Negative Breast Neoplasms
Development of an ENPP1 fluorescence probe for inhibitor screening, cellular imaging and prognostic assessment of malignant breast cancer.
Tuberculosis
Inhibition of innate immune cytosolic surveillance by an M. tuberculosis phosphodiesterase.
Uremia
Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus.
Vascular Calcification
Alkalosis and Dialytic Clearance of Phosphate Increases Phosphatase Activity: A Hidden Consequence of Hemodialysis.
Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy (GACI).
Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
Insights into dental mineralization from three heritable mineralization disorders.
Levels of serum ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) predicts severity of abdominal aortic calcification in end-stage renal disease patients receiving regular dialysis.
New Variants in Enpp1 and Ptpn6 Genes Cause Low Bone Density, Crystal-Related Arthropathy and Vascular Calcification.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Vascular calcification is dependent on plasma levels of pyrophosphate.
Viremia
Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan.
Virus Diseases
Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan.
Maintenance of cyclic GMP-AMP homeostasis by ENPP1 is involved in pseudorabies virus infection.