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Disease on EC 2.4.2.8 - hypoxanthine phosphoribosyltransferase

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DISEASE
TITLE OF PUBLICATION
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5'-nucleotidase deficiency
Inborn errors of purine metabolism: clinical update and therapies.
Acquired Immunodeficiency Syndrome
Activities of purine metabolising enzymes in lymphocytes of neonates and young children: correlates with immune function.
ACTH-Secreting Pituitary Adenoma
Clonal origins of adrenocorticotropin-secreting pituitary tissue in Cushing's disease.
Acute Kidney Injury
Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Neuromuscular disease presentation with three genetic defects involving two genomes.
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Purine enzyme defects as a cause of acute renal failure in childhood.
adenine phosphoribosyltransferase deficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Adenocarcinoma
Hypoxanthine phosphoribosyltransferase and guanine metabolism of adenocarcinoma 755 cells.
Adenocarcinoma of Lung
Carboxylated Short Single-Walled Carbon Nanotubes But Not Plain and Multi-Walled Short Carbon Nanotubes Show in vitro Genotoxicity.
adenosine deaminase deficiency
Substrate inhibition of adenosine phosphorylation in adenosine deaminase deficiency and adenosine-mediated inhibition of PP-ribose-P dependent nucleotide synthesis in hypoxanthine phosphoribosyltransferase deficient erythrocytes.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
adenylosuccinate lyase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Alzheimer Disease
Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).
Chromosomal fragility associated with familial Alzheimer's disease.
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Amebiasis
Metronidazole hprt mutation induction in sheep and the relationship with its elimination rate.
Anemia
Clonal hematopoiesis in patients with acquired aplastic anemia.
Anemia, Aplastic
Clonal haematopoiesis in children with acquired aplastic anaemia.
Anemia, Macrocytic
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Anemia, Megaloblastic
Acquired increases of human erythrocyte purine enzymes.
Anemia, Pernicious
Uric acid nephrolithiasis.
Arteritis
Allopurinol-induced arteritis in partial HGPRTase deficiency. Atypical seizure manifestation.
Arthritis
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
Arthritis, Gouty
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis.
Crystal structures of Apo and GMP bound hypoxanthine-guanine phosphoribosyltransferase from Legionella pneumophila and the implications in gouty arthritis.
Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Saturation mutagenesis, complement selection, and steady-state kinetic studies illuminate the roles of invariant residues in active site loop I of the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
The role of the HPRT gene in human disease.
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
[Investigation of a variant form of hypoxanthine-phosphoribosyl transferase in a family (author's transl)]
Arthritis, Rheumatoid
Purine enzyme activities in recent onset rheumatoid arthritis: are there differences between patients and healthy controls?
Astrocytoma
Selection of reference genes for gene expression studies in astrocytomas.
Ataxia
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Ataxia Telangiectasia
Acidic pH induces topoisomerase II-mediated DNA damage.
Characterization of spontaneous and induced mutations in SV40-transformed normal and ataxia telangiectasia cell lines.
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients.
Cloning Efficiency and Spontaneous Mutant Frequency in Circulating T-lymphocytes in Ataxia-telangiectasia Patients.
Generation of a panel of radiation-reduced hybrids containing human 11q22-23 fragments bearing a HPRT selective marker: identification of hybrids carrying various subregions around the ataxia-telangiectasia locus.
High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors.
Athetosis
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
Atrial Fibrillation
Identification of optimal reference genes for transcriptomic analyses in normal and diseased human heart.
Autoimmune Diseases
Association among somatic HPRT mutant frequency, peripheral blood T-lymphocyte clonality, and serologic parameters of disease activity in children with juvenile onset dermatomyositis.
Azotemia
A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase.
Basal Ganglia Diseases
Partial characterization of the proteome of the mouse striatum.
Blindness
Hypoxanthine-guanine phosphoribosyltransferase and deutan colour blindness: the relative positions of their loci on the X-chromosome.
Bloom Syndrome
Correction of sister chromatid exchanges in Bloom's syndrome fibroblasts after fusion with cytoplasts from a Chinese hamster cell line.
Large deletions at the HPRT locus associated with the mutator phenotype in a Bloom's syndrome lymphoblastoid cell line.
Brain Diseases
[Encephalopathy with self mutilations in a twin. Normal HGPRT activity. Hyperuricosuria without major hyperuricemia. Apropos of the limits of the Lesch-Nyham syndrome]
Breast Neoplasms
Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier.
Evaluation and validation of candidate endogenous control genes for real-time quantitative PCR studies of breast cancer.
Factors influencing mutation at the hprt locus in T-lymphocytes: women treated for breast cancer.
Genotoxic effects of radiotherapy and chemotherapy on the circulating lymphocytes of breast cancer patients. III: Measurement of mutant frequency to 6-thioguanine resistance.
Hypoxanthine Phosphoribosyl Transferase 1 Is Upregulated, Predicts Clinical Outcome and Controls Gene Expression in Breast Cancer.
Identification of endogenous reference genes for qRT-PCR analysis in normal matched breast tumor tissues.
Mutagenesis after cancer therapy.
Purine salvage enzyme activities in normal and neoplastic human tissues.
Quantitative expression analysis and study of the novel human kallikrein-related peptidase 14 gene (KLK14) in malignant and benign breast tissues.
Single nucleotide instability: a wide involvement in human and rat mammary carcinogenesis?
The presence of single nucleotide instability in human breast cancer cell lines.
Validation of common reference genes stability in exosomal mRNA-isolated from liver and breast cancer cell lines.
Carcinogenesis
1,3-butadiene: cancer, mutations, and adducts. Part III: In vivo mutation of the endogenous hprt genes of mice and rats by 1,3-butadiene and its metabolites.
A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.
DNA adducts: biological markers of exposure and potential applications to risk assessment.
Hprt mutant frequency and molecular analysis of Hprt mutations in Fischer 344 rats treated with thiotepa.
Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults.
o-phenanthroline protects mammalian cells from hydrogen peroxide-induced gene mutation and morphological transformation.
Specificity of mutations induced by the food-associated heterocyclic amine 2-amino-1-methyl-6-phenylimidazo-[4,5-b]-pyridine in colon cancer cell lines defective in mismatch repair.
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice.
Carcinoma
6-thioguanine resistance in a human colon carcinoma cell line with unaltered levels of hypoxanthine guanine phosphoribosyltransferase activity.
Comparisons of the frequencies and molecular spectra of HPRT mutants when human cancer cells were X-irradiated during G1 or S phase.
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype.
Equivalence test in quantitative reverse transcription polymerase chain reaction: confirmation of reference genes suitable for normalization.
Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization?
Hprt mutations and karyotype abnormalities in T-cell clones from healthy subjects and melphalan-treated ovarian carcinoma patients.
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Identification of reference genes for qRT-PCR in human lung squamous-cell carcinoma by RNA-Seq.
Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas.
Lower mutation frequencies are induced by ENU in undifferentiated embryonic cells than in differentiated cells of the mouse in vitro.
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma.
Radiation-induced HPRT mutations resulting from misrejoined DNA double-strand breaks.
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Single nucleotide instability without microsatellite instability in rat mammary carcinomas.
Single nucleotide instability: a wide involvement in human and rat mammary carcinogenesis?
Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair.
Suppression of aryl hydrocarbon hydroxylase activity in human primary lung carcinoma x mouse hepatoma somatic cell hybrids.
Carcinoma, Embryonal
De novo X-chromosome inactivation in somatic hybrid cells between the XO mouse embryonal carcinoma cell and XY rat lymphocyte.
DNA methylation of two X chromosome genes in female somatic and embryonal carcinoma cells.
Sequential X-chromosome reactivation and inactivation in cell hybrids between murine embryonal carcinoma cells and female rat thymocytes.
Carcinoma, Hepatocellular
Assignment of genes for human monoamine oxidases A and B to the X chromosome.
Comparison of co-cultivation of V79 cells with rat hepatocytes and rat H4IIE hepatoma cells for studying nitrosamine-induced hprt gene mutations.
Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues.
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Further examination of the effects of nitrosylation on Alternaria alternata mycotoxin mutagenicity in vitro.
In vitro induction of somatic cell hybridization by the local anesthetic chloroprocaine.
Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine-guanine phosphoribosyltransferase gene.
Involvement of APOBEC3B in mutation induction by irradiation.
Isolation and characterization of HPRT-deficient human hepatoma cells.
Pre-S mutant surface antigens in chronic hepatitis B virus infection induce oxidative stress and DNA damage.
Protection against AZT-induced mutagenesis at the HGPRT locus in a human cell line by WR-151326.
Subchromosomal localization and order of GLA, PGK1, HPRT, and G6PD loci on the X chromosome of the American mink (Mustela vison).
Tissue preference and differentiation of malignant rat x mouse hybrid cells in chimaeric mouse fetuses.
[The distribution of 4 genes (alpha GAL, PGK-1, HPRT and G6PD) on the X chromosome of the American mink (Mustela vison)]
Carcinoma, Non-Small-Cell Lung
Reference genes for gene expression studies on non-small cell lung cancer.
Carcinoma, Renal Cell
Equivalence test in quantitative reverse transcription polymerase chain reaction: confirmation of reference genes suitable for normalization.
Carcinoma, Squamous Cell
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Cardiomyopathies
Cardiac expression of Gal4 causes cardiomyopathy in a dose-dependent manner.
Central Nervous System Diseases
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Central Nervous System Neoplasms
Comparative analysis of HPRT mutant frequency in children with cancer.
Cerebral Palsy
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
Chagas Disease
A 1.4 A crystal structure for the hypoxanthine phosphoribosyltransferase of Trypanosoma cruzi.
Analysis of 6-(2,2-Dichloroacetamido)chrysene interaction with the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi.
Hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi as a target for structure-based inhibitor design: crystallization and inhibition studies with purine analogs.
Interactions at the dimer interface influence the relative efficiencies for purine nucleotide synthesis and pyrophosphorolysis in a phosphoribosyltransferase.
Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates.
Molecular characterization and overexpression of the hypoxanthine-guanine phosphoribosyltransferase gene from Trypanosoma cruzi.
Zoledronate repositioning as a potential trypanocidal drug. Trypanosoma cruzi HPRT an alternative target to be considered.
Chordoma
Validation of reference genes in human chordoma.
Chorea
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Chromosome Disorders
Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR.
Cockayne Syndrome
Cyclobutane pyrimidine dimers do not fully explain the mutagenicity induced by UVA in Chinese hamster cells.
Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome.
Colic
Allopurinol in renal failure and the tumour lysis syndrome.
Colonic Neoplasms
A new T-lymphocyte cloning assay for detection of in vivo mutations in the human hypoxanthine-guanine phosphoribosyltransferase gene.
Antimutagenicity of cinnamaldehyde and vanillin in human cells: Global gene expression and possible role of DNA damage and repair.
Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.
Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
Serum availability affects expression of common house-keeping genes in colon adenocarcinoma cell lines: implications for quantitative real-time PCR studies.
Colorectal Neoplasms
Examination of Hypoxanthine Guanine Phosphoribosyltransferase as a biomarker for colorectal cancer patients.
Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer.
Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A.
Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair.
Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.
Colorectal Neoplasms, Hereditary Nonpolyposis
A new T-lymphocyte cloning assay for detection of in vivo mutations in the human hypoxanthine-guanine phosphoribosyltransferase gene.
Confusion
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Connective Tissue Diseases
Increased frequency of mutations in the hprt gene of T cells isolated from patients with anti-U1-70kD-autoantibody-positive connective tissue disease.
Thioguanine-resistant mutations induced by cytotoxic drugs in lymphocytes of patients with connective tissue diseases.
Use of T cell cloning to detect in vivo mutations induced by cyclophosphamide.
Coronary Artery Disease
[Identification of endogenous control genes for gene expression studies in peripheral blood of patients with coronary artery disease].
COVID-19
A Qualitative Evaluation of Language Models on Automatic Question-Answering for COVID-19.
Crohn Disease
Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy.
Cystic Fibrosis
Production of a severe cystic fibrosis mutation in mice by gene targeting.
Cysts
Artemia purine phosphoribosyltransferases. Purification and characterization.
Mycophenolic acid induces differentiation of Toxoplasma gondii RH strain tachyzoites into bradyzoites and formation of cyst-like structure in vitro.
Thermal stability of Artemia HGPRT: effect of substrates on inactivation kinetics.
Demyelinating Diseases
Increased frequencies of HPRT mutant T lymphocytes in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: further evidence for a role of T cells in the etiopathogenesis of peripheral demyelinating diseases.
Dengue
Antiviral effects if ribavirin and 6-mercapto-9-tetrahydro-2-furylpurine against dengue viruses in vitro.
Endogenous gene selection for relative quantification PCR and IL6 transcript levels in the PBMC's of severe and non-severe dengue cases.
Dermatomyositis
Association among somatic HPRT mutant frequency, peripheral blood T-lymphocyte clonality, and serologic parameters of disease activity in children with juvenile onset dermatomyositis.
Diabetes Mellitus
The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan.
Diabetes Mellitus, Type 1
Selection of hprt mutant T cells as surrogates for dividing cells reveals a restricted T cell receptor BV repertoire in insulin-dependent diabetes mellitus.
Diabetes Mellitus, Type 2
The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan.
dihydropyrimidinase deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Dihydropyrimidine Dehydrogenase Deficiency
Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Down Syndrome
Activities of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in erythrocytes from patients with Down's syndrome.
Atypical background somatic mutant frequencies at the HPRT locus in children and adults with Down syndrome.
Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.
Monoclonal nature of transient abnormal myelopoiesis in Down's syndrome.
Proteomic analysis of Down's syndrome patients with gout.
Drug-Related Side Effects and Adverse Reactions
Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy.
Dysarthria
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Dyskinesias
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Dystonia
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Esophageal Neoplasms
Mutational spectrum induced by acetaldehyde in the HPRT gene of human T lymphocytes resembles that in the p53 gene of esophageal cancers.
Fabry Disease
Reexpression of HPRT activity following cell fusion with polyethylene glycol.
Fanconi Anemia
HPRT gene expression differs in mutants derived from normal and Fanconi anemia cells: analysis of spontaneous and psoralen-photoinduced mutants.
Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus.
Molecular spectra of HPRT deletion mutations in circulating T-lymphocytes in Fanconi anemia patients.
Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens.
Spectrum of spontaneously occurring mutations in the HPRT gene of the Chinese hamster V79 cell mutant V-H4, which is homologous to Fanconi anemia group A.
Fibrosarcoma
Antimutagenic effects of amifostine: clinical implications.
Easy detection of GFP-positive mutants following forward mutations at specific gene locus in cultured human cells.
Establishment of a cell line retaining Langerhans cell characteristics.
Functional complementation of a genetic deficiency with human artificial chromosomes.
Role of the promoter in maintaining transcriptionally active chromatin structure and DNA methylation patterns in vivo.
Stable expression of a heterogeneous gene introduced via gene targeting into the HPRT locus of human fibrosarcoma cells.
The distal region of the long arm of human chromosome 1 carries tumor suppressor activity for a human fibrosarcoma line.
The polyomavirus enhancer activates chromatin accessibility on integration into the HPRT gene.
Folic Acid Deficiency
Effect of folate deficiency on mutations at the hprt locus in Chinese hamster ovary cells exposed to monofunctional alkylating agents.
The effect of folate deficiency on the cytotoxic and mutagenic responses to ethyl methanesulfonate in human lymphoblastoid cell lines that differ in p53 status.
The effect of folate deficiency on the hprt mutational spectrum in Chinese hamster ovary cells treated with monofunctional alkylating agents.
Foot Rot
Reference gene selection for quantitative PCR studies in sheep neutrophils.
Fragile X Syndrome
Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase.
Gait Disorders, Neurologic
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Genetic Diseases, Inborn
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome.
An unexpected affected female patient in a classical Lesch-Nyhan family.
Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.
Human genetic disorders, a phylogenetic perspective.
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G.
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Mutations affecting RNA splicing in man are detected more frequently in somatic than in germ cells.
NAD metabolism in HPRT-deficient mice.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Self-mutilation behaviour in Lesch-Nyhan syndrome.
Uric acid nephrolithiasis.
Genetic Diseases, X-Linked
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).
Giardiasis
Purification and characterization of guanine phosphoribosyltransferase from Giardia lamblia.
Glioblastoma
Selection of suitable housekeeping genes for expression analysis in glioblastoma using quantitative RT-PCR.
Glioma
Elevated intracellular glycine associated with hypoxanthine-guanine phosphoribosyltransferase deficiency in glioma cells.
Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity.
glucose-6-phosphatase deficiency
Disorders associated with purine and pyrimidine metabolism.
[Definition and classification of hyperuricemia]
Glycogen Storage Disease Type I
Disorders associated with purine and pyrimidine metabolism.
Goiter
Validation of reference genes for normalization gene expression in reverse transcription quantitative PCR in human normal thyroid and goiter tissue.
Gout
A method for the determination of 5-phosphoribosyl 1-pyrophosphate concentrations in erythrocytes using high-performance liquid chromatography.
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.
Approaching the transition state in the crystal structure of a phosphoribosyltransferase.
Association between cigarette smoking and hypoxanthine guanine phosphoribosyltransferase activity.
Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes.
Crystal structures of Apo and GMP bound hypoxanthine-guanine phosphoribosyltransferase from Legionella pneumophila and the implications in gouty arthritis.
Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Excess release of hypoxanthine from exercising muscle in two gout patients with partial HGPRTase deficiency: lack of ammonium release.
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Human hypoxanthine-guanine phosphoribosyltransferase.
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.
Hyperuricemia, gout, and autosomal dominant polycystic kidney disease.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout.
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Missense mutations and evolutionary conserved amino acids at the human hypoxanthine phosphoribosyl-transferase locus.
Modified GMP-affinity chromatography for the purification of mutant hypoxanthine phosphoribosyltransferase.
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Neuromuscular disease presentation with three genetic defects involving two genomes.
New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.
Normal activity of metabolic pathways involved in the formation and utilization of phosphoribosylpyrophosphate in erythrocytes of patients with primary metabolic gout.
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Normal HPRT coding region in complete and partial HPRT deficiency.
Novel Mutations in the Human HPRT Gene.
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Proteomic analysis of Down's syndrome patients with gout.
Purine synthesis de novo and salvage in hypoxanthine phosphoribosyltransferase-deficient mice.
Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine.
Research progress in the genetics of hyperuricaemia and gout.
Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
The urinary excretion of orotic acid and orotidine, measured by an isotope dilution assay.
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Uric acid nephrolithiasis.
Xanthine oxidase activity in a gouty patient with partial deficiency of HGPRT.
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
[Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect]
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
[Metabolism of purine nucleotides and the production of uric acid]
[Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)]
Granuloma
Absence of cinoxacin-induced DNA fragmentation and mutations in the rat granuloma pouch.
Molecular analysis of hprt gene mutations in skin fibroblasts of rats exposed in vivo to N-methyl-N-nitrosourea or N-ethyl-N-nitrosourea.
The gene encoding hypoxanthine-guanine phosphoribosyltransferase as target for mutational analysis: PCR cloning and sequencing of the cDNA from the rat.
Guillain-Barre Syndrome
Increased frequencies of HPRT mutant T lymphocytes in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: further evidence for a role of T cells in the etiopathogenesis of peripheral demyelinating diseases.
Heart Arrest
Selection of reference genes for quantitative real-time PCR in a rat asphyxial cardiac arrest model.
Heart Failure
Identification of optimal reference genes for transcriptomic analyses in normal and diseased human heart.
Hematologic Diseases
Clonality in hematopoietic disorders.
Hematuria
A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase.
Hemoglobinopathies
Uric acid nephrolithiasis.
Hemoglobinuria
Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria.
Hemoglobinuria, Paroxysmal
Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria.
Hemophilia A
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome.
[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies]
[Physico-chemical and catalytic properties of hypoxanthine guanine phosphoribosyltransferase in thrombocytes from blood donors and patients with hemophilia A]
Hepatitis A
Propagation of hepatitis A virus in hybrid cell lines derived from marmoset liver and Vero cells.
Hepatitis C, Chronic
GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis.
Herpes Simplex
A Safety Checkpoint to Eliminate Cancer Risk of the Immune Evasive Cells Derived from Human Embryonic Stem Cells.
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Expression of human hypoxanthine guanine phosphoribosyltransferase mRNA in brains of mice infected with a recombinant herpes simplex virus type 1.
Herpes simplex virus type 2 mutagenesis: characterization of mutants induced at the hprt locus of nonpermissive XC cells.
Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells.
Increased mutation frequency after herpes simplex virus type 2 infection in non-permissive XC cells.
Infection with adeno-associated virus type 5 inhibits mutagenicity of herpes simplex virus type 1 or 4-nitroquinoline-1-oxide.
Stability of retrovirally transduced markers in a rat cell line.
The construction of cosmid libraries which can be used to transform eukaryotic cells.
The influence of chromosomal location on the expression of two transgenes in mice.
Transfer of human HPRT gene sequences into neuronal cells by a herpes simplex virus derived vector.
Transformation of NIH 3T3 cells by herpes simplex type 2 BglII n fragment and sub-fragments is independent from induction of mutation at the HPRT locus.
Histiocytic Sarcoma
Array-based comparative genomic hybridization-guided identification of reference genes for normalization of real-time quantitative polymerase chain reaction assay data for lymphomas, histiocytic sarcomas, and osteosarcomas of dogs.
Hodgkin Disease
A prospective study of hprt mutant and mutation frequencies in treated cancer patients.
Comparative analysis of HPRT mutant frequency in children with cancer.
Mutagenesis after cancer therapy.
Mutagenesis after therapy for Hodgkin's disease.
Sister chromatid exchange frequency in Hodgkin's disease patients with elevated in vivo hprt mutant frequencies.
Hyper-IgM Immunodeficiency Syndrome
Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.
Hyper-IgM Immunodeficiency Syndrome, Type 1
Mapping of the X linked form of hyper IgM syndrome (HIGM1)
Hyperglycemia
Identification and validation of reference genes for quantitative RT-PCR analysis of retinal pigment epithelium cells under hypoxia and/or hyperglycemia.
Tissue-specific selection of stable reference genes for real-time PCR normalization in an obese rat model.
Hypersensitivity
Allopurinol-induced arteritis in partial HGPRTase deficiency. Atypical seizure manifestation.
Differential locus sensitivity to mutation induction by ionizing radiations of different LETs in Chinese hamster ovary K1 cells.
Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid.
Nucleosomes are translationally positioned on the active allele and rotationally positioned on the inactive allele of the HPRT promoter.
Role of the promoter in maintaining transcriptionally active chromatin structure and DNA methylation patterns in vivo.
hypoxanthine phosphoribosyltransferase deficiency
A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat.
A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
A human neuronal tissue culture model for Lesch-Nyhan disease.
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Acute urate nephropathy due to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
Addendum to report of partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo.
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis.
Allopurinol in renal failure and the tumour lysis syndrome.
Allopurinol-induced arteritis in partial HGPRTase deficiency. Atypical seizure manifestation.
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
Altered histamine neurotransmission in HPRT-deficient mice.
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.
An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence.
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
Attenuated variants of Lesch-Nyhan disease.
Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.
Basal ganglia dopamine loss due to defect in purine recycling.
Basis for differential cellular sensitivity to 8-azaguanine and 6-thioguanine.
Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes.
Carrier state in HGPRT deficiency. A study in 14 Spanish families.
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
Chromosome engineering: prospects for gene therapy.
Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Clinical symptoms of patients with partial HPRT deficiency.
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
Comparison of transformation efficiency of human active and inactive X-chromosomal DNA.
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
Consequences of impaired purine recycling in dopaminergic neurons.
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
Construction of a defective retrovirus containing the human hypoxanthine phosphoribosyltransferase cDNA and its expression in cultured cells and mouse bone marrow.
Correction: HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes.
Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism.
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome.
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
Disorders associated with purine and pyrimidine metabolism.
Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem: possible pharmacological model for Lesch-Nyhan syndrome.
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells.
Effect of temperature on mutation in cultured human skin fibroblasts.
Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.
Effects of thymidine kinase and methyltransferase deficiency on mutagenesis in a human lymphoblastoid cell line.
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Elevated aspartate transcarbamylase and dihydroorotase activities in erythrocytes from patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
Elevated intracellular glycine associated with hypoxanthine-guanine phosphoribosyltransferase deficiency in glioma cells.
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
Enzyme activity and brain anatomy: lessons from HPRT deficiency.
Erythrocyte ITP pyrophosphohydrolase deficiency in a psychiatric population.
Erythrocyte nucleotide variations in hypoxanthine phosphoribosyltransferase deficiency.
Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Erythrocyte PRPP concentrations in heterozygotes for HGPRTase deficiency.
Evaluation of the severity of hypoxanthine-guanine phosphoribosyltransferase deficiency using viable T cells.
Excess release of hypoxanthine from exercising muscle in two gout patients with partial HGPRTase deficiency: lack of ammonium release.
Expression of human HPRT in the central nervous system of transgenic mice.
Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome.
Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
Gene replacement therapy for inborn errors of purine metabolism.
Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Gout, uric acid and purine metabolism in paediatric nephrology.
Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
HGPRT-positive and HGPRT-negative erythrocytes in heterozygotes for HGPRT deficiency.
How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.
HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients.
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
Hypoxanthine phosphoribosyl transferase deficiency, haematopoiesis and fertility in the mouse.
Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat.
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Hypoxanthine-guanine phosphoribosyl transferase deficiency.
Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Hypoxanthine-guanine phosphoribosyl transferase: assay using high performance liquid chromatography.
Hypoxanthine-guanine phosphoribosylotransferase deficiency-The spectrum of Polish mutations.
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes.
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.
Hypoxanthine-guanine phosphoribosyltransferase deficiency.
Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
Hypoxanthine-guanine phosphoribosyltransferase: a simple spectrophotometric assay.
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.
Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient.
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
Immunological aspects of purine metabolism.
Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome.
Impaired P2X and P2Y receptor-mediated signaling in HPRT-deficient B103 neuroblastoma cells.
Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool.
Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.
Induction of hypoxanthine phosphoribosyltransferase deficiency in human U-937 cells.
Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
Inheritance of hypoxanthine-guanine phosphoribosyltransferase deficiency and detection of heterozygotes.
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Isolation and preliminary characterization of drug resistant mutants of human lymphoblastoid cells.
Karyotype evolution of the simian virus 40--transformed human cell line LNSV.
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity.
Late diagnosis of Lesch-Nyhan disease variant.
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Levels of hypoxanthine phosphoribosyltransferase RNA in human cells.
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases.
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients.
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Molecular analysis of mutations induced by 4'-hydroxymethyl-4,5',8-trimethylpsoralen and UVA in the mouse HPRT gene.
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Molecular and tissue-specific heterogeneity in HPRT deficiency.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Molecular genetics of HPRT deficiency.
Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Mouse models of hypoxanthine phosphoribosyltransferase deficiency.
Mutagen sensitivity in thymidine kinase- and methyltransferase-deficient human lymphoblastoid cells.
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
NAD metabolism in HPRT-deficient mice.
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain.
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
Nitrofurazone--genotoxicity studies in mammalian cells in vitro and in vivo.
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Normal HPRT coding region in complete and partial HPRT deficiency.
Normal hypoxanthine and ammonia release from working muscle in partial HPRT deficiency.
Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Ocular motor dysfunction in Lesch-Nyhan disease.
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
Partial characterization of the proteome of the mouse striatum.
Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Partial HPRT deficiency : heterozygotes exhibit one cell population in intact cell assays.
Partial HPRT deficiency phenotype and incomplete splicing mutation.
Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.
Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.
Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Properties of erythrocyte purine phosphoribosyltransferases in partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
Purine base incorporation into erythrocyte nucleotides in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Purine enzyme defects as a cause of acute renal failure in childhood.
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Purine phosphoribosyltransferase (EC 2.4.2.7 and 2.4.2.8) and purine de novo synthesis activity in rat testicular tissue at different stages of development, and their correlation with the circulating levels of gonadotrophins and testosterone, and with structural changes.
Purine synthesis during amino acid starvation of lymphoblasts with HPRT deficiency or PP-ribose-P synthetase overactivity decreases less than in normal cells.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Quantitative evaluation of the clinical effects of s-adenosylmethionine on mood and behavior in lesch-nyhan patients.
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice.
Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography.
Selecting for and Checking Cells with HGPRT Deficiency for Hybridoma Production.
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40.
Stable gene expression from a mammalian artificial chromosome.
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media.
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.
Substrate inhibition of adenosine phosphorylation in adenosine deaminase deficiency and adenosine-mediated inhibition of PP-ribose-P dependent nucleotide synthesis in hypoxanthine phosphoribosyltransferase deficient erythrocytes.
Telos, Conservation of Welfare, and Ethical Issues in Genetic Engineering of Animals.
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
The diagnosis of HPRT deficiency in the 21st century.
The DNA tumor virus SV 40 induces gene mutations in human cells. Reversion of HPRT deficiency.
The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation.
The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
The role of the HPRT gene in human disease.
The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
The spectrum of HPRT deficiency: an update.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
The spectrum of mutations causing HPRT deficiency: an update.
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Transfection by genomic DNA of cytochrome P1-450 enzymatic activity and inducibility.
Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Update on the phenotypic spectrum of lesch-nyhan disease and its attenuated variants.
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Urate metabolism in heterozygotes for HGPRTase deficiency.
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.
[A family of hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders (author's transl)]
[Abnormalities in urate metabolism: concept and classification]
[African green monkey cell line RAMP simultaneously resistant to 8-azaguanine, 6-mercaptopurine, and 6-thioguanine]
[Biochemical, enzymatic and genetic study of hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency]
[Characterization of a human lymphoid line with HGPRTase deficiency]
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]
[Complete and partial deficiency of HPRT]
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
[Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect]
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
[Gene therapy for genetic disorders of purine metabolism]
[HPRT deficiency]
[Hypoxanthine-guanine phosphoribosyltransferase deficiency]
[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency]
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency]
[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases]
[The Lesch-Nyhan syndrome]
[Variant phenotype of Lesch-Nyhan syndrome.]
Incontinentia Pigmenti
X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.
Infections
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
An infectious transfer and expression system for genomic DNA loci in human and mouse cells.
Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectors.
Endogenous HPRT activity in mycoplasmas isolated from cell cultures.
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Gene expression from transcriptionally disabled retroviral vectors.
Hypoxanthine-guanine phosphoribosyltransferase as a therapeutic target in protozoal infections.
Hypoxanthine-guanine phosphoribosyltransferase reporter gene mutation for analysis of in vivo clonal amplification in patients with HTLV type 1-associated Myelopathy/Tropical spastic paraparesis.
Increased frequency of specific locus mutation following human cytomegalovirus infection.
Increased mutation frequency after herpes simplex virus type 2 infection in non-permissive XC cells.
Infection with adeno-associated virus type 5 inhibits mutagenicity of herpes simplex virus type 1 or 4-nitroquinoline-1-oxide.
PfHPRT: A New Biomarker Candidate of Acute Plasmodium falciparum Infection.
Purine enzyme activities in recent onset rheumatoid arthritis: are there differences between patients and healthy controls?
Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells.
Selection and validation of suitable reference genes for qPCR gene expression analysis in goats and sheep under Peste des petits ruminants virus (PPRV), lineage IV infection.
Systematic selection of housekeeping genes for gene expression normalization in chicken embryo fibroblasts infected with Newcastle disease virus.
Infertility
Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat.
Inflammatory Bowel Diseases
Allopurinol enhances the activity of hypoxanthine-guanine phosphoribosyltransferase in inflammatory bowel disease patients during low-dose thiopurine therapy: preliminary data of an ongoing series.
Hypoxanthine guanine phosphoribosyltransferase activity is related to 6-thioguanine nucleotide concentrations and thiopurine-induced leukopenia in the treatment of inflammatory bowel disease.
Limited intra-individual variability in hypoxanthine-Guanine phosphoribosyl transferase, thiopurine S-methyl transferase, and xanthine oxidase activity in inflammatory bowel disease patients during 6-thioguanine therapy.
Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease.
Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.
Influenza, Human
Role of human hypoxanthine Guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir).
Intellectual Disability
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Dopaminergic mechanisms in self-inflicting biting behavior.
Expression of human HPRT in the central nervous system of transgenic mice.
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production.
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Purine and pyrimidine metabolites in children's urine.
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Telos, Conservation of Welfare, and Ethical Issues in Genetic Engineering of Animals.
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency]
Joint Diseases
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
[About three brothers with secondary gouty arthropathy due to a deficiency in Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)].
Keratitis
Selection of housekeeping genes for use in quantitative reverse transcription PCR assays on the murine cornea.
Kidney Calculi
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
Kidney Failure, Chronic
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.
Leishmaniasis
Cloning and expression of the hypoxanthine-guanine phosphoribosyltransferase from Leishmania donovani.
Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates.
Lesch-Nyhan Syndrome
5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice.
A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
A deficiency of hypoxanthine phosphoribosyltransferase in a sycamore callus resistant to azaguanine.
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat.
A female case of the Leach-Nyhan syndrome.
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
A human neuronal tissue culture model for Lesch-Nyhan disease.
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome.
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.
A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.
A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling.
A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report.
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.
Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients.
Abnormal development of hypoxanthine-guanine phosphoribosyltransferase-deficient CNS neuroblastoma.
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome.
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo.
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients.
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis.
Aicar effect in early neuronal development.
Allopurinol in renal failure and the tumour lysis syndrome.
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
Altered histamine neurotransmission in HPRT-deficient mice.
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome.
An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.
An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes.
An unexpected affected female patient in a classical Lesch-Nyhan family.
Animal models of Lesch-Nyhan syndrome.
Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease.
Approaching the transition state in the crystal structure of a phosphoribosyltransferase.
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
Attenuated variants of Lesch-Nyhan disease.
Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.
Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome.
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
Brain purines in a genetic mouse model of Lesch-Nyhan disease.
Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
Carrier state in HGPRT deficiency. A study in 14 Spanish families.
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.
Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
Crystal structure of Toxoplasma gondii hypoxanthine-guanine phosphoribosyltransferase with XMP, pyrophosphate, and two Mg(2+) ions bound: insights into the catalytic mechanism.
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice.
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.
Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes.
Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome.
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.
Delineation of the motor disorder of Lesch-Nyhan disease.
Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.
Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome.
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
Diploid Azaguanine-Resistant Mutants of Cultured Human Fibroblasts.
Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report.
Disorders of purines and pyrimidines.
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem: possible pharmacological model for Lesch-Nyhan syndrome.
Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells.
Dopaminergic mechanisms in self-inflicting biting behavior.
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.
Effects of thymidine kinase and methyltransferase deficiency on mutagenesis in a human lymphoblastoid cell line.
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator-Like Effector Nuclease Proteins.
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.
Elevated aspartate transcarbamylase and dihydroorotase activities in erythrocytes from patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes.
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome.
Erythrocyte nucleotide variations in hypoxanthine phosphoribosyltransferase deficiency.
Evaluation of the severity of hypoxanthine-guanine phosphoribosyltransferase deficiency using viable T cells.
Expression of human HPRT in the central nervous system of transgenic mice.
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome.
First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism.
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.
Gene duplication and inactivation in the HPRT gene family.
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.
Gene therapy and the brain.
Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase.
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures.
Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome.
Gout, uric acid and purine metabolism in paediatric nephrology.
Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells.
Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
HGPRT-positive and HGPRT-negative erythrocytes in heterozygotes for HGPRT deficiency.
High HPRT activity in fibroblasts from patients with Lesch-Nyhan syndrome due to bacterial "L-form" contamination.
HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells.
HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.
Hypoxanthine-guanine phosphoribosyltransferase-deficiency produces aberrant neurite outgrowth of rodent neuroblastoma used to model the neurological disorder Lesch Nyhan syndrome.
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females.
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Identification of Novel Mutations in the Human HPRT Gene.
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Immunological studies of hypoxanthine-guanine phosphoribosyltransferase in Lesch-Nyhan syndrome.
Impaired P2X and P2Y receptor-mediated signaling in HPRT-deficient B103 neuroblastoma cells.
Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool.
Incorporation of hypoxanthine into adenine and guanine nucleotides by human platelets.
Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Induction of hypoxanthine phosphoribosyltransferase deficiency in human U-937 cells.
Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
Inherited purine enzyme deficiencies: prenatal diagnosis and heterozygote detection.
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G.
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Isolation and preliminary characterization of drug resistant mutants of human lymphoblastoid cells.
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity.
Kinetic mechanism of human hypoxanthine-guanine phosphoribosyltransferase: rapid phosphoribosyl transfer chemistry.
Late diagnosis of Lesch-Nyhan disease variant.
Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease.
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child.
Lesch-Nyhan disease and the basal ganglia.
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Lesch-Nyhan disease with no HPRT1 gene mutation?
Lesch-Nyhan disease: from mechanism to model and back again.
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level.
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.
Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene.
Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.
Lesch-Nyhan syndrome, caffeine model: increase of purine and pyrimidine enzymes in rat brain.
Lesch-Nyhan syndrome. A case report.
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
Lesch-Nyhan syndrome: carrier and prenatal diagnosis.
Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.
Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture.
Lesch-Nyhan Syndrome: Models, Theories, and Therapies.
Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.
Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Lesch-Nyhan Syndrome: report on two brothers.
Lesch-nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Limited value of uric acid to creatinine ratios in estimating uric acid excretion.
Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization.
Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo.
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Metabolic disorders of purine metabolism affecting the nervous system.
Methotrexate inhibits superoxide production and chemotaxis in neutrophils activated by granulocyte colony-stimulating factor.
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
MicroRNAs: Tools of Mechanistic Insights and Biological Therapeutics Discovery for the Rare Neurogenetic Syndrome Lesch-Nyhan Disease (LND).
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Molecular characterization and structure analysis of hprt in a chinese patient with lesch-nyhan disease.
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome.
Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).
Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity.
Mouse models of hypoxanthine phosphoribosyltransferase deficiency.
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes.
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
NAD metabolism in HPRT-deficient mice.
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
New mutations of the HPRT gene in Lesch-Nyhan syndrome.
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Normal HPRT coding region in complete and partial HPRT deficiency.
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review.
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Novel mutation in HPRT1 causing a splicing error with multiple variations.
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Novel Mutations in the Human HPRT Gene.
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome.
Oral self-mutilation in the Lesch-Nyhan syndrome.
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Partial HPRT deficiency phenotype and incomplete splicing mutation.
Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Pathogenesis of hyperuricemia: recent advances.
Pharmacologic thresholds for self-injurious behavior in a genetic mouse model of Lesch-Nyhan disease.
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Polycyclic aromatic hydrocarbon mutagenesis of human epidermal keratinocytes in culture.
Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome.
Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain.
Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.
Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
Purine and pyrimidine metabolites in children's urine.
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Quantitative evaluation of the clinical effects of s-adenosylmethionine on mood and behavior in lesch-nyhan patients.
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine.
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
Regulation of purine de novo synthesis in cultured human fibroblasts: the role of P-ribose-PP.
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization.
Saturation mutagenesis, complement selection, and steady-state kinetic studies illuminate the roles of invariant residues in active site loop I of the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi.
Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography.
Selecting for and Checking Cells with HGPRT Deficiency for Hybridoma Production.
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Self-mutilation behaviour in Lesch-Nyhan syndrome.
Self-mutilation in the Lesch-Nyhan syndrome: a corporal consciousness problem?--a new hypothesis.
Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients.
Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.
Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.
Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40.
Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome.
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media.
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).
Substrate inhibition of adenosine phosphorylation in adenosine deaminase deficiency and adenosine-mediated inhibition of PP-ribose-P dependent nucleotide synthesis in hypoxanthine phosphoribosyltransferase deficient erythrocytes.
Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis.
Targeted gene correction of hprt mutations by 45 base single-stranded oligonucleotides.
Teratocarcinoma cells as vehicles for mutant and foreign genes.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.
The diagnosis of HPRT deficiency in the 21st century.
The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.
The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation.
The human ?-amyloid precursor protein: biomolecular and epigenetic aspects.
The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
The Lesch-Nyhan syndrome: a family study.
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.
The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
The role of de novo purine synthesis in lymphocyte transformation.
The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
The spectrum of mutations causing HPRT deficiency: an update.
The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Tissue-specific aberrations of gene expression in HPRT-deficient mice: functional complexity in a monogenic disease?
Transcriptomic approach to Lesch-Nyhan disease.
Transfection by genomic DNA of cytochrome P1-450 enzymatic activity and inducibility.
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl.
Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
[A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene]
[A new form of the Lesch-Nyhan syndrome. A study of hypoxanthine-guanine-phosphoribosyl-transferase in fibroblasts. The in vitro and in vivo effect of adenine on enzyme activity]
[African green monkey cell line RAMP simultaneously resistant to 8-azaguanine, 6-mercaptopurine, and 6-thioguanine]
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]
[Complete and partial deficiency of HPRT]
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
[Deficiency of hypoxanthine phosphoribosyltransferase (HPRT)]
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
[Lesch-Nyhan syndrome with total deficiency of the enzyme hypoxanthine phosphoribosyltransferase]
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency]
[Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members]
[The demonstration of hypoxanthine-guanine phosphoribosyl transferase enzyme protein in Lesch-Nyhan Syndrome]
[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases]
[The Lesch-Nyhan syndrome]
[Treatment of Lesch-Nyhan syndrome]
[Variant phenotype of Lesch-Nyhan syndrome.]
Leukemia
6-ethylmercaptopurine-mediated growth inhibition of HL-60 cells in vitro irrespective of purine salvage.
Analysis of hprt gene mutation following anti-cancer treatment in pediatric patients with acute leukemia.
Analysis of mutagenic V(D)J recombinase mediated mutations at the HPRT locus as an in vivo model for studying rearrangements with leukemogenic potential in children.
Analysis of spontaneous, gamma ray- and ethylnitrosourea-induced hprt mutants in HL-60 cells with multiplex PCR.
Characterization of the metabolic forms of 6-thioguanine responsible for cytotoxicity and induction of differentiation of HL-60 acute promyelocytic leukemia cells.
Collateral sensitivity of 6-mercaptopurine-resistant sublines of P388 and L1210 leukemia to the new purine antagonists, 5-carbamoyl-1H-imidazol-4-yl piperonylate and 4-carbamoylimidazolium 5-olate.
Construction of a defective retrovirus containing the human hypoxanthine phosphoribosyltransferase cDNA and its expression in cultured cells and mouse bone marrow.
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
Effect of ethylnitrosourea on HPRT gene in human promyelocytic leukemia cells.
Enhancement of the differentiation-inducing properties of 6-thioguanine by hypoxanthine and its nucleosides in HL-60 promyelocytic leukemia cells.
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Factors affecting long-term stability of Moloney murine leukemia virus-based vectors.
Gene therapy for thioguanine-resistant human leukemia.
Gestational age and gender-specific in utero V(D)J recombinase-mediated deletions.
Guanine analog-induced differentiation of human promyelocytic leukemia cells and changes in queuine modification of tRNA.
hprt mutant frequencies, nonpulmonary malignancies, and domestic radon exposure: "postmortem" analysis of an interesting hypothesis.
HPRT mutations in vivo in human CD 34+ hematopoietic stem cells.
Increased mutant frequencies in the HPRT gene locus of leukemia HL-60 cells treated with succinylacetone.
Induction of leukemia cell differentiation by chemotherapeutic agents.
Molecular analysis of spontaneous hypoxanthine phosphoribosyltransferase mutations in thioguanine-resistant HL-60 human leukemia cells.
Molecular analysis of Tripterygium hypoglaucum (level) Hutch-induced mutations at the HPRT locus in human promyelocytic leukemia cells by multiplex polymerase chain reaction.
Moloney murine leukemia reverse transcriptase suspect in the production of multiple misincorporations during hprt cDNA synthesis.
Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: comparison with HPRT locus mutation.
Tissue specific toxicities of the anticancer drug 6-thioguanine is dependent on the Hprt status in transgenic mice.
Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies.
[Abnormalities in urate metabolism: concept and classification]
[Continuous expression of induced differentiation characters in a HGPRT human promyelocytic leukemia cell mutant (HL-60-AR)]
[Establishment of human promyelocytic leukemia cell mutant (HL-60-AR) with characteristics of resistance to 8-AG and deficiency in HGPRT]
[Potency of induced differentiation in vitro of a human promyelocytic leukemia cell mutant (HL-60-AR) with characteristics of resistance to 8-AG and deficiency in HGPRT]
Leukemia, Erythroblastic, Acute
Human globin gene expression in hybrid 2S MEL X human fibroblast cells.
Impairment of nucleotide excision repair by apoptosis in UV-irradiated mouse cells.
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.
Leukemia, Lymphocytic, Chronic, B-Cell
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Enzymological studies in chronic lymphocytic leukemia.
Leukemia, Lymphoid
A human lymphoid leukemia cell line with a V(D)J recombinase-mediated deletion of hprt.
Leukemia, Myeloid
Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions.
Leukemia, Myeloid, Acute
Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: comparison with HPRT locus mutation.
Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies.
Leukemia, Promyelocytic, Acute
Characterization of the metabolic forms of 6-thioguanine responsible for cytotoxicity and induction of differentiation of HL-60 acute promyelocytic leukemia cells.
Leukemia, T-Cell
Adaptive response to mutagenesis and its molecular basis in a human T-cell leukemia line primed with a low dose of gamma-rays.
Leukopenia
Hypoxanthine guanine phosphoribosyltransferase activity is related to 6-thioguanine nucleotide concentrations and thiopurine-induced leukopenia in the treatment of inflammatory bowel disease.
Lung Injury
Pulmonary chemokine and mutagenic responses in rats after subchronic inhalation of amorphous and crystalline silica.
Pulmonary inflammatory, chemokine, and mutagenic responses in rats after subchronic inhalation of carbon black.
Lung Neoplasms
Dietary fruit and vegetables protect against somatic mutation in vivo, but low or high intake of carotenoids does not.
Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.
Effect of TEI-6720, a xanthine oxidase inhibitor, on the nucleoside transport in the lung cancer cell line A549.
Hprt mutant frequency and aromatic DNA adduct level in non-smoking and smoking lung cancer patients and population controls.
Mutant frequency at the hprt locus in human lymphocytes in a case-control study of lung cancer.
Mutation frequency and spectrum in lymphocytes of small cell lung cancer patients receiving etoposide chemotherapy.
Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients.
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
Reference genes for gene expression studies on non-small cell lung cancer.
The expression level of fibulin-2 in the circulating RNA (ctRNA) of epithelial tumor cells of peripheral blood and tumor tissue of patients with metastatic lung cancer.
[An HGPRT defective mouse lung cancer cell line and its biological characteristics.]
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
[HGPRT-defective Lewis lung carcinoma cell line and its biological characteristics.]
Lymphoma
2'-O-Acyl-6-thioinosine cyclic 3',5'-phosphates as prodrugs of thioinosinic acid.
A mutational assay system for L5178Y mouse lymphoma cells, using hypoxanthine-guanine-phosphoribosyl-transferase (HGPRT) -deficiency as marker. The occurrence of a long expression time for mutations induced by X-rays and EMS.
An assessment of the genotoxicity and human health risk of topical use of kojic acid [5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one].
Anomalous genotoxic responses induced in mouse lymphoma L5178Y cells by potassium bromate.
Bromate induces loss of heterozygosity in the thymidine kinase gene of L5178Y/Tk(+/-)-3.7.2C mouse lymphoma cells.
Comparison of the mutagenic potency of 2-chloroethanol, 2-bromoethanol, 1,2-epoxybutane, epichlorohydrin and glycidaldehyde in Klebsiella pneumoniae, Drosophila melanogaster and L5178Y mouse lymphoma cells.
Culture conditions for a human lymphoma cell line (Raji) and their application to mutation research.
Differential mutant quantitation at the mouse lymphoma tk and CHO hgprt loci.
Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes.
Establishment of a dose-response relationship for reverse mutation at the HPRT (hypoxanthine guanine phosphoribosyl transferase) locus L5178Y mouse lymphoma cells.
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Final report on the safety assessment of HC Red No. 7.
Genotoxic effects of p-aminophenol in Chinese hamster ovary and mouse lymphoma cells: results of a multiple endpoint test.
Genotoxicity and carcinogenicity studies of antihypertensive agents.
Genotoxicity assessment of the flavouring agent, perillaldehyde.
Genotoxicity of 2-amino-6-N-hydroxyadenine (AHA) to mouse lymphoma and CHO cells.
Genotoxicity tests for new chemicals in Germany: routine in vitro test systems.
Hypoxanthine-guanine phosphoribosyl transferase with altered substrate affinity in mutant mouse lymphoma cells.
Impairment of nucleotide excision repair by apoptosis in UV-irradiated mouse cells.
In vitro and in vivo assessment of the mutagenic activity of N-[N-[3-(3-hydroxy-4-methoxyphenyl) propyl]-?-aspartyl]-L-phenylalanine 1-methyl ester, monohydrate (advantame).
In vitro genotoxicity of para-phenylenediamine and its N-monoacetyl or N,N'-diacetyl metabolites.
In vitro genotoxicity studies: n-Butyl acrylate L5178Y mouse lymphoma (TK+/- locus assay), 2-Ethylhexyl acrylate gene mutation assay in Chinese hamster V79 cells, and 2-Ethylhexyl acrylate micronucleus test in human lymphocytes.
Locus specificity of mutagenicity of 2,4-diaminotoluene in both L5178Y mouse lymphoma and AT3-2 Chinese hamster ovary cells.
Molecular analysis of mutations induced by N-ethyl-N-nitrosourea at the HPRT locus in mouse lymphoma cells.
Murine lymphoma L5178Y cells resistant to purine antagonists: differences in cross-resistance to thioguanine-platinum(II) and selenoguanine-platinum(II).
Mutagenesis of L5178Y/TK(+/-)-3.7.2C mouse lymphoma cells by the clastogen ellipticine.
Mutagenic activity of acrylamide in eukaryotic systems but not in bacteria.
Mutagenicity of methyl bromide in a series of short-term tests.
Mutagenicity of the mycotoxin alternariol in cultured mammalian cells.
Mutant frequency and mutational spectra in the Tk and Hprt genes of N-ethyl-N-nitrosourea-treated mouse lymphoma cellsdagger.
Nucleotide sequence determination of point mutations at the mouse HPRT locus using in vitro amplification of HPRT mRNA sequences.
Ochratoxin A-induced mutagenesis in mammalian cells is consistent with the production of oxidative stress.
The mutagenic activity of ethylmethanesulphonate, benzidine and benzo[a]pyrene at the hprt locus of wild-type L5178Y mouse lymphoma cells.
The use of L5178Y mouse lymphoma cells to assess the mutagenic, clastogenic and aneugenic properties of chemicals.
UV-induced mutagenesis at the hypoxanthine-guanine phosphoribosyl transferase locus in two L5178Y mouse lymphoma cell strains with different UV sensitivities.
Lymphoma, B-Cell
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Lymphoma, Non-Hodgkin
Comparative analysis of HPRT mutant frequency in children with cancer.
Correlated mutagenesis of bcl2 and hprt loci in blood lymphocytes.
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity in hybrids derived from HGPRT+ and HGPRT- mouse cells.
The frequency of illegitimate V(D)J recombinase-mediated mutations in children treated with etoposide-containing antileukemic therapy.
Lymphoma, T-Cell
Roles of GTP and Rho GTPases in pancreatic islet beta cell function and dysfunction.
Lymphoproliferative Disorders
Mapping of the X linked form of hyper IgM syndrome (HIGM1)
Uric acid nephrolithiasis.
X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.
Malaria
A transition-state analogue reduces protein dynamics in hypoxanthine-guanine phosphoribosyltransferase.
Crystal structures of Giardia lamblia guanine phosphoribosyltransferase at 1.75 A(,).
Localisation of hypoxanthine phosphoribosyl transferase in the malaria parasite Plasmodium falciparum.
PfHPRT: A New Biomarker Candidate of Acute Plasmodium falciparum Infection.
Purification of human malaria parasite hypoxanthine guanine xanthine phosphoribosyltransferase (HGXPRT) using immobilized Reactive Red 120.
Malnutrition
Effect of undernutrition on some enzymes involved in the salvage pathway of purine nucleotides in different regions of developing rat brain.
Tissue-specific selection of reference genes is required for expression studies in the mouse model of maternal protein undernutrition.
Melanoma
Clonal expansions of 6-thioguanine resistant T lymphocytes in the blood and tumor of melanoma patients.
Extinction of muscle-specific properties in somatic cell heterokaryons.
How useful are housekeeping genes? Variable expression in melanoma metastases.
In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells.
In vivo mutant frequency of thioguanine-resistant T-cells in the peripheral blood and lymph nodes of melanoma patients.
Increase in hypoxanthine-guanine phosphoribosyl transferase gene mutations by exposure to high-density 50-Hz magnetic fields.
Methyl DNA adducts, DNA repair, and hypoxanthine-guanine phosphoribosyl transferase mutations in peripheral white blood cells from patients with malignant melanoma treated with dacarbazine and hydroxyurea.
Purine deoxynucleoside metabolism in human melanoma cells with a high spontaneous mutation rate.
Melanoma, Amelanotic
Induction of supermelanin synthesis and morphological changes in interspecific reconstituted cells and its reversal by tumor promoter.
Meningioma
Validation of Reference Genes for Expression Studies in Human Meningiomas under Different Experimental Settings.
Mental Retardation, X-Linked
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
Metabolic Diseases
Transcriptomic approach to Lesch-Nyhan disease.
[Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase].
Metabolism, Inborn Errors
Gene replacement therapy for inborn errors of purine metabolism.
Mixed Connective Tissue Disease
Increased frequency of mutations in the hprt gene of T cells isolated from patients with anti-U1-70kD-autoantibody-positive connective tissue disease.
Movement Disorders
Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.
Multiple Myeloma
Production of human hybridomas secreting antibodies to measles virus.
Uric acid nephrolithiasis.
Multiple Sclerosis
Homologies between T cell receptor junctional sequences unique to multiple sclerosis and T cells mediating experimental allergic encephalomyelitis.
HPRT mutant T-cell lines from multiple sclerosis patients recognize myelin proteolipid protein peptides.
Longitudinal study of frequency of HPRT mutant T cells in patients with multiple sclerosis.
Myelin basic protein peptide specificity and T-cell receptor gene usage of HPRT mutant T-cell clones in patients with multiple sclerosis.
Unique T-cell receptor junctional sequences found in multiple sclerosis and T-cells mediating experimental allergic encephalomyelitis.
Muscle Spasticity
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
Muscular Dystrophies
The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome.
Muscular Dystrophy, Duchenne
Two expressed human genes sustain slightly more DNA damage after alkylating agent treatment than an inactive gene.
Muscular Dystrophy, Emery-Dreifuss
The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome.
Myelodysplastic Syndromes
Clonal analysis of myelodysplastic syndromes: evidence of multipotent stem cell origin.
Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene.
In vivo effects of granulocyte-macrophage colony-stimulating factor and interleukin-3 on clonal and non-clonal cell populations in patients with clonal hematopoietic disorders.
Myeloproliferative Disorders
Clonal analysis of chronic myeloproliferative disorders using X-linked DNA polymorphisms.
Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement.
Myeloproliferative disorders: usefulness of X-linked probes in diagnosis.
Myocarditis
[Selection of reference genes for transcription analysis for myocarditis studies].
Myositis
Association among somatic HPRT mutant frequency, peripheral blood T-lymphocyte clonality, and serologic parameters of disease activity in children with juvenile onset dermatomyositis.
Myxoma
The myxoma virus M-T4 gene encodes a novel RDEL-containing protein that is retained within the endoplasmic reticulum and is important for the productive infection of lymphocytes.
Nasopharyngeal Carcinoma
Establishment of Epstein-Barr virus (EBV)-associated nuclear antigen (EBNA)-positive nasopharyngeal carcinoma hybrid cell line (NPC-KT).
Neoplasm Metastasis
Effect of Human Fat Graft on Breast Cancer Metastasis in a Murine Model.
How useful are housekeeping genes? Variable expression in melanoma metastases.
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Metastasis prognostic factors and cancer stem cell-related transcription factors associated with metastasis induction in canine metastatic mammary gland tumors.
Suitable reference genes for real-time PCR in human HBV-related hepatocellular carcinoma with different clinical prognoses.
Neoplasms
1,3-butadiene: cancer, mutations, and adducts. Part III: In vivo mutation of the endogenous hprt genes of mice and rats by 1,3-butadiene and its metabolites.
A prospective study of hprt mutant and mutation frequencies in treated cancer patients.
A review of HPRT and its emerging role in cancer.
Acidic pH induces topoisomerase II-mediated DNA damage.
Activation of a nonexpressed hypoxanthine phosphoribosyltransferase allele in mutant H23 HeLa cells by agents that inhibit DNA methylation.
Acute renal failure from xanthine nephropathy during management of acute leukemia.
Analysis of mutations in the K-ras and p53 genes of lung tumors and in the hprt gene of 6-thioguanine-resistant T-lymphocytes from rats treated with 1,6-dinitropyrene.
Analysis of oxidative DNA damage and HPRT mutant frequencies in cancer patients before and after radiotherapy.
Analysis of point mutations in the hprt gene of cancer patients treated with radioimmunoglobulin therapy.
Antimutagenic effects of amifostine: clinical implications.
Assessing human risk to heterocyclic amines.
Association of invasion-promoting tenascin-C additional domains with breast cancers in young women.
Biomarkers in long survivors of pediatric acute lymphoblastic leukemia patients: late effects of cancer chemotherapy.
Biomonitoring human exposure to environmental carcinogenic chemicals.
Bromate induces loss of heterozygosity in the thymidine kinase gene of L5178Y/Tk(+/-)-3.7.2C mouse lymphoma cells.
Cancer chemotherapy and somatic cell mutation.
Cellular resistance and hypermutability in mismatch repair-deficient human cancer cell lines following treatment with methyl methanesulfonate.
Characterization of Hprt mutations in cDNA and genomic DNA of T-cell mutants from control and 1,3-butadiene-exposed male B6C3F1 mice and F344 rats.
Characterizing and optimizing human anticancer drug targets based on topological properties in the context of biological pathways.
Choice of endogenous control for gene expression in nonsmall cell lung cancer.
Clonal composition of benign and malignant human thyroid tumors.
Comparative analysis of HPRT mutant frequency in children with cancer.
Comparison of the mutagenic potency of 1,3-butadiene at the hprt locus of T-lymphocytes following inhalation exposure of female B6C3F1 mice and F344 rats.
Comparisons of the frequencies and molecular spectra of HPRT mutants when human cancer cells were X-irradiated during G1 or S phase.
Conjunctival expression of matrix metalloproteinase and pro-inflammatory cytokine genes following trichiasis surgery.
Consensus reference gene(s) for gene expression studies in human cancers: end of the tunnel visible?
Culture and propagation of Hprt mutant T-lymphocytes isolated from mouse spleen.
Cysteine conjugate beta-lyase activity in human renal carcinomas.
Deletion mutations in the hprt gene of T-lymphocytes as a biomarker for genomic rearrangements important in human cancers.
Dependence of mutation induction on fast-neutron energy in a human epithelial teratocarcinoma cell line (P3).
Depletion of intracellular glutathione reduces mutations by nitric oxide-donating drugs.
Detection of cyclophosphamide-induced mutations at the Hprt but not the lacI locus in splenic lymphocytes of exposed mice.
Development and Analytical Validation of a Reverse Transcription Droplet Digital PCR (RT-ddPCR) Assay for PD-L1 Transcripts in Circulating Tumor Cells.
Development of a microarray for studying porcine cytokine production in blood mononuclear cells and intestinal biopsies.
Dietary vitamin E affects neutrophil distribution and genetic instability in murine Mutatect tumors.
Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype.
Differential regulation of the von Willebrand factor and Flt-1 promoters in the endothelium of hypoxanthine phosphoribosyltransferase-targeted mice.
Distinguishing potential sources of genotoxic exposure via HPRT mutations.
Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.
DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice.
DNA adduct formation and molecular analysis of in vivo lacI mutations in the mammary tissue of Big Blue rats treated with 7, 12-dimethylbenz[a]anthracene.
DNA adducts: biological markers of exposure and potential applications to risk assessment.
DNA methylation changes in human testicular cancer.
DNA strand biases and the mutational resilience of genes.
Dose-dependent differences in the profile of mutations induced by carcinogenic (R,S,S,R) bay- and fjord-region diol epoxides of polycyclic aromatic hydrocarbons.
Dose-dependent effects of dietary alpha- and gamma-tocopherols on genetic instability in mouse Mutatect tumors.
Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.
Effect of dietary vitamin E on spontaneous or nitric oxide donor-induced mutations in a mouse tumor model.
Enumeration of 6-thioguanine-resistant tumour cells using flow cytometry and comparison with a microtitration cloning assay.
Escape from het-6 incompatibility in Neurospora crassa partial diploids involves preferential deletion within the ectopic segment.
Evaluation of mutant frequencies at the hprt and the T-cell receptor loci in pediatric cancer patients before treatment.
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Evidence of genetic instability in tumors and normal nearby tissues.
Expression of interleukin-8 promotes neutrophil infiltration and genetic instability in mutatect tumors.
Falling from grace: HPRT is not suitable as an endogenous control for cancer-related studies.
Flow cytometric enumeration of drug-resistant tumor cells.
Frequencies of HPRT mutants and micronuclei in lymphocytes of cancer patients under chemotherapy: a prospective study.
Frequencies of HPRT- lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors.
Genetic effects of 1,3-butadiene and associated risk for heritable damage.
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.
Genotoxicity of 1,3-butadiene and its epoxy intermediates.
Genotoxicity of malachite green and leucomalachite green in female Big Blue B6C3F1 mice.
Growth of V79 cells as xenograft tumors promotes multicellular resistance but does not increase spontaneous or radiation-induced mutant frequency.
HMGA2 expression distinguishes between different types of postpubertal testicular germ cell tumour.
HPRT gene alterations in umbilical cord blood T-lymphocytes in newborns of mothers exposed to tobacco smoke during pregnancy.
hprt mutant frequencies, nonpulmonary malignancies, and domestic radon exposure: "postmortem" analysis of an interesting hypothesis.
Hprt mutants in a transplantable murine tumour arise more frequently in vivo than in vitro.
HPRT mutations in vivo in human CD 34+ hematopoietic stem cells.
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Human T-T cell hybridomas: development and applications.
Hypoxanthine Guanine Phosphoribosyltransferase expression is negatively correlated with immune activity through its regulation of purine synthesis.
Hypoxanthine Phosphoribosyl Transferase 1 Is Upregulated, Predicts Clinical Outcome and Controls Gene Expression in Breast Cancer.
Hypoxanthine-guanine phosphoribosyl-transferase in childhood leukemia: relation with immunophenotype, in vitro drug resistance and clinical prognosis.
Hypoxanthine:guanine phosphoribosyltransferase activity in primary human osteosarcomas. A rationale for therapy with methotrexate-thymidine rescue?
Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer.
Identification of optimal reference genes for gene expression normalization in a wide cohort of endometrioid endometrial carcinoma tissues.
Identification of Selective Lead Compounds for Treatment of High-Ploidy Breast Cancer.
Identification of valid reference genes for gene expression studies of human stomach cancer by reverse transcription-qPCR.
Illegitimate V(D)J recombination-mediated deletions in Notch1 and Bcl11b are not sufficient for extensive clonal expansion and show minimal age or sex bias in frequency or junctional processing.
In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells.
In vivo ionizing irradiations produce deletions in the hprt gene of human T-lymphocytes.
In vivo mutant frequency of thioguanine-resistant T-cells in the peripheral blood and lymph nodes of melanoma patients.
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
IPCS guidelines for the monitoring of genotoxic effects of carcinogens in humans. International Programme on Chemical Safety.
Is breast cancer cluster influenced by environmental and occupational factors among hospital nurses in Hungary?
Keratinocyte autophagy enables the activation of keratinocytes and fibroblasts and facilitates wound healing.
Lymphocyte mutant frequency in relation to DNA adduct formation in rats treated with tumorigenic doses of the mammary gland carcinogen 7,12-dimethylbenz[a]anthracene.
Malignant mixed tumor (carcinosarcoma) of the pancreas: a case report supporting organ-induced differentiation of malignancy.
Measurement of chromosomal aberrations, sister chromatid exchange, hprt mutations, and DNA adducts in peripheral lymphocytes of human populations at increased risk for cancer.
Measurement of mutation frequency at the HPRT locus in peripheral lymphocytes. Is this a good method to evaluate a cancer risk in pediatric patients?
Measuring the genetic damage in cancer patients during radiotherapy with three genetic end-points.
Metastasis prognostic factors and cancer stem cell-related transcription factors associated with metastasis induction in canine metastatic mammary gland tumors.
Molecular bases of hprt mutations in malathion-treated human T-lymphocytes.
Molecular genetic evidence of a unifocal origin for human serous ovarian carcinomas.
Molecular interaction between human tumor marker protein p150, the largest subunit of eIF3, and intermediate filament protein K7.
Monoclonal origins of malignant mixed tumors (carcinosarcomas). Evidence for a divergent histogenesis.
Mouse mammary tumor virus p75 and p110 CUX1 transgenic mice develop mammary tumors of various histologic types.
Murine lymphoma L5178Y cells resistant to purine antagonists: differences in cross-resistance to thioguanine-platinum(II) and selenoguanine-platinum(II).
Mutagenesis after cancer therapy.
Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice.
Mutagenesis of L5178Y/TK(+/-)-3.7.2C mouse lymphoma cells by the clastogen ellipticine.
Mutagenicity and clastogenicity of teniposide (VM-26) in L5178Y/TK +/- -3.7.2C mouse lymphoma cells.
Mutagenicity and cytotoxicity of reactive oxygen and nitrogen species in the MN-11 murine tumor cell line.
Mutant frequency at the hprt locus in human lymphocytes in a case-control study of lung cancer.
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects.
Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients.
Mutator phenotypes in human colorectal carcinoma cell lines.
New approaches to understanding p53 gene tumor mutation spectra.
NOD2 (CARD15) mutations in Crohn's disease are associated with diminished mucosal alpha-defensin expression.
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
On the quantitative relationship between O6-methylguanine residues in genomic DNA and production of sister-chromatid exchanges, mutations and lethal events in a Mer- human tumor cell line.
Overexpression and surface localization of HPRT in prostate cancer provides a potential target for cancer specific antibody mediated cellular cytotoxicity.
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Potential new biomarkers for endometrial cancer.
Prospective study of mutant frequencies at the hprt and T-cell receptor gene loci in pediatric cancer patients during chemotherapy.
Proteomic profiling reveals that resveratrol inhibits HSP27 expression and sensitizes breast cancer cells to doxorubicin therapy.
Purine metabolism of human glioblastoma in vivo.
Purine salvage enzyme activities in normal and neoplastic human tissues.
Purine-Metabolising Enzymes and Apoptosis in Cancer.
Quantification of hprt gene deletions mediated by illegitimate V(D)J recombination in peripheral blood cells of humans.
Quantification of tumor suppressor mRNA expression by poly-competitive RT-PCR using a TS-IS that contained multiple internal competitors.
Quantitative selectivity of contact-mediated intercellular communication in a metastatic mouse mammary tumor line.
Recombinagenic activity of the phorbol ester 12-O-tetradecanoylphorbol-13-acetate in human lymphoblastoid cells.
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Relationship between the levels of purine salvage pathway enzymes and clinical/biological aggressiveness of human colon carcinoma.
Resistance to 6-thioguanine in mismatch repair-deficient human cancer cell lines correlates with an increase in induced mutations at the HPRT locus.
Role of differentiation induction in action of purine antimetabolites.
Selection of reference genes for real-time PCR in human hepatocellular carcinoma tissues.
Sequence Distribution of Acetaldehyde-Derived N(2)-Ethyl-dG Adducts along Duplex DNA.
Somatic mutant frequency at the HPRT locus in children associated with a pediatric cancer cluster linked to exposure to two superfund sites.
Somatic mutation of hPMS2 as a possible cause of sporadic human colon cancer with microsatellite instability.
Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A.
Specificity of mutations induced by methyl methanesulfonate in mismatch repair-deficient human cancer cell lines.
Spectra of X-ray-induced and spontaneous intragenic HPRT mutations in closely related human cells differentially expressing the p53 tumor suppressor gene.
Spectrum of point mutations in the coding region of the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene in human T-lymphocytes in vivo.
Stability of housekeeping genes in alveolar macrophages from COPD patients.
Strand-specific removal of cyclobutane pyrimidine dimers from the p53 gene in the epidermis of UVB-irradiated hairless mice.
Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas.
The DNA tumor virus SV 40 induces gene mutations in human cells. Reversion of HPRT deficiency.
The expression level of fibulin-2 in the circulating RNA (ctRNA) of epithelial tumor cells of peripheral blood and tumor tissue of patients with metastatic lung cancer.
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice.
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies.
V(D)J recombinase-mediated HPRT mutations in peripheral blood lymphocytes of normal children.
Validation of common reference genes stability in exosomal mRNA-isolated from liver and breast cancer cell lines.
Validation of Reference Genes for Normalization of Relative qRT-PCR Studies in Papillary Thyroid Carcinoma.
X-chromosome inactivation patterns using HPRT and PGK polymorphisms in haematologically normal and post-chemotherapy females.
[Acquisition of resistance associated with impairment of metabolic activation of anticancer drugs]
[Definition and classification of hyperuricemia]
[Opposite effect of p53 on nucleotide metabolizing enzyme activity in Rat1 cells and their sublines, transformed by N-RAS or v-mos oncogenes]
Neoplasms, Germ Cell and Embryonal
HMGA2 expression distinguishes between different types of postpubertal testicular germ cell tumour.
Neoplastic Cells, Circulating
Development and Analytical Validation of a Reverse Transcription Droplet Digital PCR (RT-ddPCR) Assay for PD-L1 Transcripts in Circulating Tumor Cells.
Nephrocalcinosis
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Nephrolithiasis
A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia.
Acute renal failure from xanthine nephropathy during management of acute leukemia.
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Nervous System Diseases
5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice.
Expression of human HPRT in the central nervous system of transgenic mice.
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Partial characterization of the proteome of the mouse striatum.
Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain.
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
[A family of hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders (author's transl)]
[Complete and partial deficiency of HPRT]
Neurilemmoma
Characterization of rat schwannoma-Schwann cell hybrids.
Neurobehavioral Manifestations
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
The Use of Perinatal 6-Hydroxydopamine to Produce a Rodent Model of Lesch-Nyhan Disease.
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Neuroblastoma
A human neuronal tissue culture model for Lesch-Nyhan disease.
Cell fusion-induced mouse neuroblastomas HPRT revertants with variant enzyme and elevated HPRT protein levels.
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.
Comparative analysis of HPRT mutant frequency in children with cancer.
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
Decreased 6-mercaptopurine retention by two resistant variants of mouse neuroblastoma with normal hypoxanthine-guanine-phospho-ribosyltransferase activities.
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
IMP-dehydrogenase (IMPDH), hypoxanthine-guanine phosphoribosyltransferase (HGPRT), and phosphodiesterases (PDEs) expression during mycophenolic acid (MPA)-induced differentiation in human neuroblastoma cell lines.
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein.
Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity.
Neuronal traits of clonal cell lines derived by fusion of dorsal root ganglia neurons with neuroblastoma cells.
Prospective study of mutant frequencies at the hprt and T-cell receptor gene loci in pediatric cancer patients during chemotherapy.
Purification and characterization of guanine phosphoribosyltransferase from Giardia lamblia.
Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Schistosoma mansoni. A potential target for chemotherapy.
Reliable transcript quantification by real-time reverse transcriptase-polymerase chain reaction in primary neuroblastoma using normalization to averaged expression levels of the control genes HPRT1 and SDHA.
Reversion in expression of hypoxanthine-guanine phosphoribosyltransferase in 6-thioguanine resistant neuroblastoma: evidence for reduced enzyme levels associated with unaltered catalytic activity.
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
Neurocysticercosis
Mutation at the HPRT locus in patients with neurocysticercosis treated with praziquantel.
Neurodegenerative Diseases
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
Neurologic Manifestations
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
Aicar effect in early neuronal development.
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Molecular characterization and structure analysis of hprt in a chinese patient with lesch-nyhan disease.
Normal HPRT coding region in complete and partial HPRT deficiency.
Partial HPRT deficiency phenotype and incomplete splicing mutation.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.
The diagnosis of HPRT deficiency in the 21st century.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
Neuroma
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells.
Non-alcoholic Fatty Liver Disease
Interleukin-32 Contributes to Human Nonalcoholic Fatty Liver Disease and Insulin Resistance.
Obesity, Morbid
The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan.
Oliguria
A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase.
ornithine carbamoyltransferase deficiency
Experience with a simple high-performance liquid chromatography method for the analysis of purine and pyrimidine nucleosides and bases in biological fluids.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
orotidine-5'-phosphate decarboxylase deficiency
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.
Osteoporosis
Identification of B cells participated in the mechanism of postmenopausal women osteoporosis using microarray analysis.
Osteosarcoma
Absence of hypoxanthine:guanine phosphoribosyltransferase activity in murine Dunn osteosarcoma.
Array-based comparative genomic hybridization-guided identification of reference genes for normalization of real-time quantitative polymerase chain reaction assay data for lymphomas, histiocytic sarcomas, and osteosarcomas of dogs.
Hypoxanthine:guanine phosphoribosyltransferase activity in primary human osteosarcomas. A rationale for therapy with methotrexate-thymidine rescue?
Hypoxanthine:guanine phosphoribosyltransferase activity in xenografts of human osteosarcoma.
IMPDH2 and HPRT expression and a prognostic significance in preoperative and postoperative patients with osteosarcoma.
Suppression of high-density magnetic field (400 mT at 50 Hz)-induced mutations by wild-type p53 expression in human osteosarcoma cells.
Ovarian Neoplasms
Effect of chemotherapy on the mutation frequency of ovarian cancer cells at the HPRT locus.
Regulation of Human MutYH DNA Glycosylase by the E3 Ubiquitin Ligase Mule.
pantoate-beta-alanine ligase (amp-forming) deficiency
Disorders associated with purine and pyrimidine metabolism.
Paraparesis, Spastic
Hypoxanthine-guanine phosphoribosyltransferase reporter gene mutation for analysis of in vivo clonal amplification in patients with HTLV type 1-associated Myelopathy/Tropical spastic paraparesis.
Parasitic Diseases
Cloning and expression of the hypoxanthine-guanine phosphoribosyltransferase gene from Trypanosoma brucei.
Crystal structure of Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyl transferase L160I mutant--insights into inhibitor design.
Hypoxanthine-guanine phosphoribosyltransferase as a therapeutic target in protozoal infections.
The HPRT short-term assay in monitoring individuals exposed to genotoxic agents.
Parkinson Disease
Differential Co-Expression between ?-Synuclein and IFN-? Signaling Genes across Development and in Parkinson's Disease.
Perinatal Death
The pathophysiological changes associated with neonatal death of cloned pigs.
Peste-des-Petits-Ruminants
Selection and validation of suitable reference genes for qPCR gene expression analysis in goats and sheep under Peste des petits ruminants virus (PPRV), lineage IV infection.
Pheochromocytoma
Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells.
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
Photosensitivity Disorders
Molecular analysis of mutations induced by 4'-hydroxymethyl-4,5',8-trimethylpsoralen and UVA in the mouse HPRT gene.
Pituitary ACTH Hypersecretion
Clonal origins of adrenocorticotropin-secreting pituitary tissue in Cushing's disease.
Pituitary Neoplasms
GH3 rat pituitary tumor cells are deficient in hypoxanthine-guanine phosphoribosyl transferase activity.
Polycystic Kidney, Autosomal Dominant
Hyperuricemia, gout, and autosomal dominant polycystic kidney disease.
Polycythemia
The application of X-chromosome gene probes to the diagnosis of myeloproliferative disease.
Uric acid nephrolithiasis.
Polyneuropathies
Increased frequencies of HPRT mutant T lymphocytes in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: further evidence for a role of T cells in the etiopathogenesis of peripheral demyelinating diseases.
Neuromuscular disease presentation with three genetic defects involving two genomes.
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Increased frequencies of HPRT mutant T lymphocytes in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: further evidence for a role of T cells in the etiopathogenesis of peripheral demyelinating diseases.
Pre-Eclampsia
Impact of maternal lifestyle factors on newborn HPRT mutant frequencies and molecular spectrum--initial results from the Prenatal Exposures and Preeclampsia Prevention (PEPP) Study.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Accumulation of somatic mutations in proliferating T cell clones from children treated for leukemia.
Analysis of genetic alterations and clonal proliferation in children treated for acute lymphocytic leukemia.
Analysis of microsatellite instability in children treated for acute lymphocytic leukemia with elevated HPRT mutant frequencies.
Biochemical parameters of mercaptopurine activity in patients with acute lymphoblastic leukemia.
Biomarkers in long survivors of pediatric acute lymphoblastic leukemia patients: late effects of cancer chemotherapy.
Clinical relevance of in vitro drug resistance testing in childhood acute lymphoblastic leukemia: the state of the art.
Comparative analysis of HPRT mutant frequency in children with cancer.
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Genotoxicity of therapeutic intervention in children with acute lymphocytic leukemia.
Hypoxanthine-guanine phosphoribosyl-transferase in childhood leukemia: relation with immunophenotype, in vitro drug resistance and clinical prognosis.
Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: comparison with HPRT locus mutation.
V(D)J recombinase-mediated HPRT mutations in peripheral blood lymphocytes of normal children.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Hypoxanthine-guanine phosphoribosyl-transferase in childhood leukemia: relation with immunophenotype, in vitro drug resistance and clinical prognosis.
V(D)J recombinase-mediated HPRT mutations in peripheral blood lymphocytes of normal children.
Prostatic Neoplasms
Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization?
Multianalyte quantitative competitive PCR on optically encoded microspheres for an eight-gene panel related to prostate cancer.
Overexpression and surface localization of HPRT in prostate cancer provides a potential target for cancer specific antibody mediated cellular cytotoxicity.
Pulmonary Disease, Chronic Obstructive
Suitable reference genes determination for real-time PCR using induced sputum samples.
purine-nucleoside phosphorylase deficiency
Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.
Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism.
Guanine nucleotide metabolism in red blood cells: the metabolic basis for GTP depletion in HGPRT and PNP deficiency.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Renal Insufficiency
Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
Gout, uric acid and purine metabolism in paediatric nephrology.
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Reperfusion Injury
Dual role of hypoxanthine in the reoxygenation of hypoxic isolated rat hearts.
Retinal Detachment
Intravitreal invading cells contribute to vitreal cytokine milieu in proliferative vitreoretinopathy.
Retinal Perforations
Intravitreal invading cells contribute to vitreal cytokine milieu in proliferative vitreoretinopathy.
Sarcoma
Comparative analysis of HPRT mutant frequency in children with cancer.
Expression of X-linked genes in deceased neonates and surviving cloned female piglets.
Sheep gene mapping: additional DNA markers included (CASB, CASK, LALBA, IGF-1 and AMH).
Sarcoma 180
5-Iodoribose 1-phosphate, an analog of ribose 1-phosphate. Enzymatic synthesis and kinetic studies with enzymes of purine, pyrimidine, and sugar phosphate metabolism.
Sarcoma, Avian
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) expression in the central nervous system of HPRT-deficient mice following adenoviral-mediated gene transfer.
Scleroderma, Systemic
Increased frequency of in vivo hprt gene-mutated T cells in the peripheral blood of patients with systemic sclerosis.
Seizures
Allopurinol-induced arteritis in partial HGPRTase deficiency. Atypical seizure manifestation.
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
Sepsis
Glyceraldehyde-3-phosphate Dehydrogenase is an Inappropriate Housekeeping Gene for Normalising Gene Expression in Sepsis.
Skin Neoplasms
Role of DNA polymerases eta, iota and zeta in UV resistance and UV-induced mutagenesis in a human cell line.
Small Cell Lung Carcinoma
Mutation frequency and spectrum in lymphocytes of small cell lung cancer patients receiving etoposide chemotherapy.
Spastic Paraplegia, Hereditary
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
Spinocerebellar Degenerations
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Squamous Cell Carcinoma of Head and Neck
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Six Glycolysis-Related Genes as Prognostic Risk Markers Can Predict the Prognosis of Patients with Head and Neck Squamous Cell Carcinoma.
Starvation
AMP deaminase in Dictyostelium discoideum: increase in activity following nutrient deprivation induced by starvation or hadacidin.
Dynamic architecture of the purinosome involved in human de novo purine biosynthesis.
Purine synthesis during amino acid starvation of lymphoblasts with HPRT deficiency or PP-ribose-P synthetase overactivity decreases less than in normal cells.
Role of the hprT-ftsH locus in Staphylococcus aureus.
The control of cell proliferation by preformed purines: a genetic study. I. Isolation and preliminary characterization of Chinese hamster lines with single or multiple defects in purine "salvage" pathways.
Stomach Neoplasms
Identification of valid reference genes for gene expression studies of human stomach cancer by reverse transcription-qPCR.
Subacute Sclerosing Panencephalitis
Production of human hybridomas secreting antibodies to measles virus.
Telangiectasis
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients.
Teratocarcinoma
Altered differentiation, indefinite growth potential, diminished tumorigenicity, and suppressed chimerization potential of hybrids between mouse teratocarcinoma cells and thymocytes.
DNA methylation changes in human testicular cancer.
Tissue preference and differentiation of malignant rat x mouse hybrid cells in chimaeric mouse fetuses.
Transformation of teratocarcinoma stem cells and fibroblasts with various vectors containing the Eco.gpt gene as a selection marker.
[Effect of inhibitors of topoisomerases and poly(ADP-ribosylation) on homologous and non-homologous integration of exogenous DNA in genes of mammalian somatic cells]
[The behavior of the X chromosomes in intra- and interspecific hybrid cells of murine teratocarcinoma PCC4azal]
Teratoma
Induction of mutations by chemical agents at the hypoxanthine-guanine phosphoribosyl transferase locus in human epithelial teratoma cells.
Thalassemia
Uric acid nephrolithiasis.
Thrombocythemia, Essential
In vivo effects of granulocyte-macrophage colony-stimulating factor and interleukin-3 on clonal and non-clonal cell populations in patients with clonal hematopoietic disorders.
Thyroid Cancer, Papillary
Validation of Reference Genes for Normalization of Relative qRT-PCR Studies in Papillary Thyroid Carcinoma.
Thyroid Nodule
Clonal analysis of solitary follicular nodules in the thyroid.
Tourette Syndrome
HGPRT in the Gilles de la Tourette syndrome.
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome.
Triple Negative Breast Neoplasms
Hypoxanthine Phosphoribosyl Transferase 1 Is Upregulated, Predicts Clinical Outcome and Controls Gene Expression in Breast Cancer.
Trypanosomiasis, African
Cloning and expression of the hypoxanthine-guanine phosphoribosyltransferase gene from Trypanosoma brucei.
Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates.
Tuberculosis
First Crystal Structures of Mycobacterium tuberculosis 6-Oxopurine Phosphoribosyltransferase: Complexes with GMP and Pyrophosphate and with Acyclic Nucleoside Phosphonates Whose Prodrugs Have Antituberculosis Activity.
Hypoxanthine-guanine phosphoribosyltransferase from Mycobacteriumtuberculosis H37Rv: Cloning, expression, and biochemical characterization.
Hypoxanthine-Guanine Phosphoribosyltransferase Is Dispensable for Mycobacterium smegmatis Viability.
Inhibition of the Escherichia coli 6-Oxopurine Phosphoribosyltransferases by Nucleoside Phosphonates: Potential for New Antibacterial Agents.
Oligomeric state of hypoxanthine-guanine phosphoribosyltransferase from Mycobacterium tuberculosis.
Synthesis and biological evaluation of cationic fullerene quinazolinone conjugates and their binding mode with modeled Mycobacterium tuberculosis hypoxanthine-guanine phosphoribosyltransferase enzyme.
Tuberous Sclerosis
The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan.
Tumor Lysis Syndrome
Acute renal failure from xanthine nephropathy during management of acute leukemia.
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Urinary Bladder Neoplasms
Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer.
Mutation induction by ionizing radiation in three human bladder tumour cell lines.
Urinary Calculi
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Purine synthesis de novo and salvage in hypoxanthine phosphoribosyltransferase-deficient mice.
[The experimental and clinical studies on the urinary calculi with the special reference to the metabolism of uric acid. Report III: cause of primary hyperuricemia; in particular, basic study of primary hyperuricemia due to disorder to the enzyme hypoxanthine-guanine phosphoribosyl transferase (author's transl)]
Vaccinia
Increased antibody responses to human papillomavirus type 16 L1 protein expressed by recombinant vaccinia virus lacking serine protease inhibitor genes.
Reverse guanine phosphoribosyltransferase selection of recombinant vaccinia viruses.
Virus Diseases
Endogenous gene selection for relative quantification PCR and IL6 transcript levels in the PBMC's of severe and non-severe dengue cases.
Werner Syndrome
Elevated spontaneous mutation rate in SV40-transformed Werner syndrome fibroblast cell lines.
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.
Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions.
Wilms Tumor
Prospective study of mutant frequencies at the hprt and T-cell receptor gene loci in pediatric cancer patients during chemotherapy.
xanthine dehydrogenase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
xanthine oxidase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
Xeroderma Pigmentosum
Characterization of SV40-transformed xeroderma pigmentosum cell lines for their usability in HPRT mutation studies.
Comparison of the rate of excision of major UV photoproducts in the strands of the human HPRT gene of normal and xeroderma pigmentosum variant cells.
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier.
Ethyl methane sulfonate- and bleomycin-generated deletion mutations at HPRT locus in xeroderma pigmentosum complementation group D fibroblasts.
Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors.
Molecular analysis of ultraviolet-induced mutations in a xeroderma pigmentosum cell line.