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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 Kidney Injury
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Acute Kidney Injury
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Acute Kidney Injury
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.
Acute Kidney Injury
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.
Acute Kidney Injury
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
Acute Kidney Injury
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Acute Kidney Injury
Neuromuscular disease presentation with three genetic defects involving two genomes.
Acute Kidney Injury
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Acute Kidney Injury
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Acute Kidney Injury
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Acute Kidney Injury
Purine enzyme defects as a cause of acute renal failure in childhood.
adenine phosphoribosyltransferase deficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
adenine phosphoribosyltransferase deficiency
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
adenine phosphoribosyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
adenine phosphoribosyltransferase deficiency
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.
adenosine deaminase deficiency
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).
Alzheimer Disease
Chromosomal fragility associated with familial Alzheimer's disease.
Alzheimer 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.
Arthritis
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
Arthritis
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.
Arthritis, Gouty
Crystal structures of Apo and GMP bound hypoxanthine-guanine phosphoribosyltransferase from Legionella pneumophila and the implications in gouty arthritis.
Arthritis, Gouty
Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).
Arthritis, Gouty
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Arthritis, Gouty
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Arthritis, Gouty
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Arthritis, Gouty
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.
Arthritis, Gouty
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Arthritis, Gouty
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Arthritis, Gouty
The role of the HPRT gene in human disease.
Arthritis, Gouty
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
Arthritis, Gouty
[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.
Ataxia
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Ataxia Telangiectasia
Acidic pH induces topoisomerase II-mediated DNA damage.
Ataxia Telangiectasia
Characterization of spontaneous and induced mutations in SV40-transformed normal and ataxia telangiectasia cell lines.
Ataxia Telangiectasia
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients.
Ataxia Telangiectasia
Cloning Efficiency and Spontaneous Mutant Frequency in Circulating T-lymphocytes in Ataxia-telangiectasia Patients.
Ataxia Telangiectasia
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.
Ataxia Telangiectasia
High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
Ataxia Telangiectasia
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.
Bloom Syndrome
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.
Breast Neoplasms
Evaluation and validation of candidate endogenous control genes for real-time quantitative PCR studies of breast cancer.
Breast Neoplasms
Factors influencing mutation at the hprt locus in T-lymphocytes: women treated for breast cancer.
Breast Neoplasms
Genotoxic effects of radiotherapy and chemotherapy on the circulating lymphocytes of breast cancer patients. III: Measurement of mutant frequency to 6-thioguanine resistance.
Breast Neoplasms
Hypoxanthine Phosphoribosyl Transferase 1 Is Upregulated, Predicts Clinical Outcome and Controls Gene Expression in Breast Cancer.
Breast Neoplasms
Identification of endogenous reference genes for qRT-PCR analysis in normal matched breast tumor tissues.
Breast Neoplasms
Mutagenesis after cancer therapy.
Breast Neoplasms
Purine salvage enzyme activities in normal and neoplastic human tissues.
Breast Neoplasms
Quantitative expression analysis and study of the novel human kallikrein-related peptidase 14 gene (KLK14) in malignant and benign breast tissues.
Breast Neoplasms
Single nucleotide instability: a wide involvement in human and rat mammary carcinogenesis?
Breast Neoplasms
The presence of single nucleotide instability in human breast cancer cell lines.
Breast Neoplasms
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.
Carcinogenesis
A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.
Carcinogenesis
DNA adducts: biological markers of exposure and potential applications to risk assessment.
Carcinogenesis
Hprt mutant frequency and molecular analysis of Hprt mutations in Fischer 344 rats treated with thiotepa.
Carcinogenesis
Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults.
Carcinogenesis
o-phenanthroline protects mammalian cells from hydrogen peroxide-induced gene mutation and morphological transformation.
Carcinogenesis
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.
Carcinogenesis
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.
Carcinoma
Comparisons of the frequencies and molecular spectra of HPRT mutants when human cancer cells were X-irradiated during G1 or S phase.
Carcinoma
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
Carcinoma
Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype.
Carcinoma
Equivalence test in quantitative reverse transcription polymerase chain reaction: confirmation of reference genes suitable for normalization.
Carcinoma
Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization?
Carcinoma
Hprt mutations and karyotype abnormalities in T-cell clones from healthy subjects and melphalan-treated ovarian carcinoma patients.
Carcinoma
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Carcinoma
Identification of reference genes for qRT-PCR in human lung squamous-cell carcinoma by RNA-Seq.
Carcinoma
Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas.
Carcinoma
Lower mutation frequencies are induced by ENU in undifferentiated embryonic cells than in differentiated cells of the mouse in vitro.
Carcinoma
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Carcinoma
POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma.
Carcinoma
Radiation-induced HPRT mutations resulting from misrejoined DNA double-strand breaks.
Carcinoma
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Carcinoma
Single nucleotide instability without microsatellite instability in rat mammary carcinomas.
Carcinoma
Single nucleotide instability: a wide involvement in human and rat mammary carcinogenesis?
Carcinoma
Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair.
Carcinoma
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.
Carcinoma, Embryonal
DNA methylation of two X chromosome genes in female somatic and embryonal carcinoma cells.
Carcinoma, Embryonal
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.
Carcinoma, Hepatocellular
Comparison of co-cultivation of V79 cells with rat hepatocytes and rat H4IIE hepatoma cells for studying nitrosamine-induced hprt gene mutations.
Carcinoma, Hepatocellular
Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues.
Carcinoma, Hepatocellular
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Carcinoma, Hepatocellular
Further examination of the effects of nitrosylation on Alternaria alternata mycotoxin mutagenicity in vitro.
Carcinoma, Hepatocellular
In vitro induction of somatic cell hybridization by the local anesthetic chloroprocaine.
Carcinoma, Hepatocellular
Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine-guanine phosphoribosyltransferase gene.
Carcinoma, Hepatocellular
Involvement of APOBEC3B in mutation induction by irradiation.
Carcinoma, Hepatocellular
Isolation and characterization of HPRT-deficient human hepatoma cells.
Carcinoma, Hepatocellular
Pre-S mutant surface antigens in chronic hepatitis B virus infection induce oxidative stress and DNA damage.
Carcinoma, Hepatocellular
Protection against AZT-induced mutagenesis at the HGPRT locus in a human cell line by WR-151326.
Carcinoma, Hepatocellular
Subchromosomal localization and order of GLA, PGK1, HPRT, and G6PD loci on the X chromosome of the American mink (Mustela vison).
Carcinoma, Hepatocellular
Tissue preference and differentiation of malignant rat x mouse hybrid cells in chimaeric mouse fetuses.
Carcinoma, Hepatocellular
[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.
Carcinoma, Squamous Cell
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Carcinoma, Squamous Cell
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.
Cerebral Palsy
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.
Chagas Disease
Analysis of 6-(2,2-Dichloroacetamido)chrysene interaction with the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi.
Chagas Disease
Hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi as a target for structure-based inhibitor design: crystallization and inhibition studies with purine analogs.
Chagas Disease
Interactions at the dimer interface influence the relative efficiencies for purine nucleotide synthesis and pyrophosphorolysis in a phosphoribosyltransferase.
Chagas Disease
Molecular and biochemical studies on the hypoxanthine-guanine phosphoribosyltransferases of the pathogenic haemoflagellates.
Chagas Disease
Molecular characterization and overexpression of the hypoxanthine-guanine phosphoribosyltransferase gene from Trypanosoma cruzi.
Chagas Disease
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.
Cockayne Syndrome
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.
Colonic Neoplasms
Antimutagenicity of cinnamaldehyde and vanillin in human cells: Global gene expression and possible role of DNA damage and repair.
Colonic Neoplasms
Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.
Colonic Neoplasms
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.
Colonic Neoplasms
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
Colonic Neoplasms
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.
Colorectal Neoplasms
Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer.
Colorectal Neoplasms
Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A.
Colorectal Neoplasms
Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair.
Colorectal Neoplasms
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.
Connective Tissue Diseases
Thioguanine-resistant mutations induced by cytotoxic drugs in lymphocytes of patients with connective tissue diseases.
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.
Cysts
Mycophenolic acid induces differentiation of Toxoplasma gondii RH strain tachyzoites into bradyzoites and formation of cyst-like structure in vitro.
Cysts
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.
Dengue
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.
dihydropyrimidinase deficiency
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.
Dihydropyrimidine Dehydrogenase Deficiency
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.
Down Syndrome
Atypical background somatic mutant frequencies at the HPRT locus in children and adults with Down syndrome.
Down Syndrome
Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.
Down Syndrome
Monoclonal nature of transient abnormal myelopoiesis in Down's syndrome.
Down 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?
Dystonia
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Dystonia
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Dystonia
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Dystonia
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.
Fanconi Anemia
Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus.
Fanconi Anemia
Molecular spectra of HPRT deletion mutations in circulating T-lymphocytes in Fanconi anemia patients.
Fanconi Anemia
Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens.
Fanconi Anemia
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.
Fibrosarcoma
Easy detection of GFP-positive mutants following forward mutations at specific gene locus in cultured human cells.
Fibrosarcoma
Establishment of a cell line retaining Langerhans cell characteristics.
Fibrosarcoma
Functional complementation of a genetic deficiency with human artificial chromosomes.
Fibrosarcoma
Role of the promoter in maintaining transcriptionally active chromatin structure and DNA methylation patterns in vivo.
Fibrosarcoma
Stable expression of a heterogeneous gene introduced via gene targeting into the HPRT locus of human fibrosarcoma cells.
Fibrosarcoma
The distal region of the long arm of human chromosome 1 carries tumor suppressor activity for a human fibrosarcoma line.
Fibrosarcoma
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.
Folic Acid Deficiency
The effect of folate deficiency on the cytotoxic and mutagenic responses to ethyl methanesulfonate in human lymphoblastoid cell lines that differ in p53 status.
Folic Acid Deficiency
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.
Genetic Diseases, Inborn
An unexpected affected female patient in a classical Lesch-Nyhan family.
Genetic Diseases, Inborn
Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.
Genetic Diseases, Inborn
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Genetic Diseases, Inborn
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.
Genetic Diseases, Inborn
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.
Genetic Diseases, Inborn
Human genetic disorders, a phylogenetic perspective.
Genetic Diseases, Inborn
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G.
Genetic Diseases, Inborn
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Genetic Diseases, Inborn
Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Genetic Diseases, Inborn
Mutations affecting RNA splicing in man are detected more frequently in somatic than in germ cells.
Genetic Diseases, Inborn
NAD metabolism in HPRT-deficient mice.
Genetic Diseases, Inborn
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Genetic Diseases, Inborn
Self-mutilation behaviour in Lesch-Nyhan syndrome.
Genetic Diseases, Inborn
Uric acid nephrolithiasis.
Genetic Diseases, X-Linked
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Genetic Diseases, X-Linked
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.
Glioma
Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity.
glucose-6-phosphatase deficiency
Disorders associated with purine and pyrimidine metabolism.
glucose-6-phosphatase deficiency
[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.
Gout
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Gout
ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.
Gout
Approaching the transition state in the crystal structure of a phosphoribosyltransferase.
Gout
Association between cigarette smoking and hypoxanthine guanine phosphoribosyltransferase activity.
Gout
Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes.
Gout
Crystal structures of Apo and GMP bound hypoxanthine-guanine phosphoribosyltransferase from Legionella pneumophila and the implications in gouty arthritis.
Gout
Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Gout
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.
Gout
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Gout
Excess release of hypoxanthine from exercising muscle in two gout patients with partial HGPRTase deficiency: lack of ammonium release.
Gout
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Gout
How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
Gout
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.
Gout
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Gout
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Gout
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
Gout
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Gout
Human hypoxanthine-guanine phosphoribosyltransferase.
Gout
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Gout
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
Gout
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.
Gout
Hyperuricemia, gout, and autosomal dominant polycystic kidney disease.
Gout
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Gout
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Gout
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.
Gout
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
Gout
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
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.
Gout
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
Gout
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Gout
Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout.
Gout
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.
Gout
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
Gout
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Gout
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Gout
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Gout
Missense mutations and evolutionary conserved amino acids at the human hypoxanthine phosphoribosyl-transferase locus.
Gout
Modified GMP-affinity chromatography for the purification of mutant hypoxanthine phosphoribosyltransferase.
Gout
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
Gout
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
Gout
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Gout
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Gout
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Gout
Neuromuscular disease presentation with three genetic defects involving two genomes.
Gout
New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.
Gout
Normal activity of metabolic pathways involved in the formation and utilization of phosphoribosylpyrophosphate in erythrocytes of patients with primary metabolic gout.
Gout
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Gout
Normal HPRT coding region in complete and partial HPRT deficiency.
Gout
Novel Mutations in the Human HPRT Gene.
Gout
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.
Gout
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
Gout
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Gout
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.
Gout
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Gout
Proteomic analysis of Down's syndrome patients with gout.
Gout
Purine synthesis de novo and salvage in hypoxanthine phosphoribosyltransferase-deficient mice.
Gout
Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine.
Gout
Research progress in the genetics of hyperuricaemia and gout.
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.
Gout
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Gout
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Gout
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
Gout
The urinary excretion of orotic acid and orotidine, measured by an isotope dilution assay.
Gout
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Gout
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
Gout
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Gout
Uric acid nephrolithiasis.
Gout
Xanthine oxidase activity in a gouty patient with partial deficiency of HGPRT.
Gout
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
Gout
[Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect]
Gout
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
Gout
[Metabolism of purine nucleotides and the production of uric acid]
Gout
[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.
Granuloma
Molecular analysis of hprt gene mutations in skin fibroblasts of rats exposed in vivo to N-methyl-N-nitrosourea or N-ethyl-N-nitrosourea.
Granuloma
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.
Hemophilia A
[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies]
Hemophilia A
[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.
Herpes Simplex
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Herpes Simplex
Expression of human hypoxanthine guanine phosphoribosyltransferase mRNA in brains of mice infected with a recombinant herpes simplex virus type 1.
Herpes Simplex
Herpes simplex virus type 2 mutagenesis: characterization of mutants induced at the hprt locus of nonpermissive XC cells.
Herpes Simplex
Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells.
Herpes Simplex
Increased mutation frequency after herpes simplex virus type 2 infection in non-permissive XC cells.
Herpes Simplex
Infection with adeno-associated virus type 5 inhibits mutagenicity of herpes simplex virus type 1 or 4-nitroquinoline-1-oxide.
Herpes Simplex
Stability of retrovirally transduced markers in a rat cell line.
Herpes Simplex
The construction of cosmid libraries which can be used to transform eukaryotic cells.
Herpes Simplex
The influence of chromosomal location on the expression of two transgenes in mice.
Herpes Simplex
Transfer of human HPRT gene sequences into neuronal cells by a herpes simplex virus derived vector.
Herpes Simplex
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.
Hodgkin Disease
Comparative analysis of HPRT mutant frequency in children with cancer.
Hodgkin Disease
Mutagenesis after cancer therapy.
Hodgkin Disease
Mutagenesis after therapy for Hodgkin's disease.
Hodgkin 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.
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.
Hypersensitivity
Differential locus sensitivity to mutation induction by ionizing radiations of different LETs in Chinese hamster ovary K1 cells.
Hypersensitivity
Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid.
Hypersensitivity
Nucleosomes are translationally positioned on the active allele and rotationally positioned on the inactive allele of the HPRT promoter.
Hypersensitivity
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.
hypoxanthine phosphoribosyltransferase deficiency
A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat.
hypoxanthine phosphoribosyltransferase deficiency
A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
A human neuronal tissue culture model for Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
hypoxanthine phosphoribosyltransferase deficiency
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.
hypoxanthine phosphoribosyltransferase deficiency
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
hypoxanthine phosphoribosyltransferase deficiency
Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
hypoxanthine phosphoribosyltransferase deficiency
Acute urate nephropathy due to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Addendum to report of partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo.
hypoxanthine phosphoribosyltransferase deficiency
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis.
hypoxanthine phosphoribosyltransferase deficiency
Allopurinol in renal failure and the tumour lysis syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Allopurinol-induced arteritis in partial HGPRTase deficiency. Atypical seizure manifestation.
hypoxanthine phosphoribosyltransferase deficiency
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Altered histamine neurotransmission in HPRT-deficient mice.
hypoxanthine phosphoribosyltransferase deficiency
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
hypoxanthine phosphoribosyltransferase deficiency
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).
hypoxanthine phosphoribosyltransferase deficiency
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.
hypoxanthine phosphoribosyltransferase deficiency
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
hypoxanthine phosphoribosyltransferase deficiency
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence.
hypoxanthine phosphoribosyltransferase deficiency
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Attenuated variants of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.
hypoxanthine phosphoribosyltransferase deficiency
Basal ganglia dopamine loss due to defect in purine recycling.
hypoxanthine phosphoribosyltransferase deficiency
Basis for differential cellular sensitivity to 8-azaguanine and 6-thioguanine.
hypoxanthine phosphoribosyltransferase deficiency
Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
hypoxanthine phosphoribosyltransferase deficiency
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
hypoxanthine phosphoribosyltransferase deficiency
Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes.
hypoxanthine phosphoribosyltransferase deficiency
Carrier state in HGPRT deficiency. A study in 14 Spanish families.
hypoxanthine phosphoribosyltransferase deficiency
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
hypoxanthine phosphoribosyltransferase deficiency
Chromosome engineering: prospects for gene therapy.
hypoxanthine phosphoribosyltransferase deficiency
Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
hypoxanthine phosphoribosyltransferase deficiency
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
hypoxanthine phosphoribosyltransferase deficiency
Clinical symptoms of patients with partial HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Comparison of transformation efficiency of human active and inactive X-chromosomal DNA.
hypoxanthine phosphoribosyltransferase deficiency
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Consequences of impaired purine recycling in dopaminergic neurons.
hypoxanthine phosphoribosyltransferase deficiency
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Construction of a defective retrovirus containing the human hypoxanthine phosphoribosyltransferase cDNA and its expression in cultured cells and mouse bone marrow.
hypoxanthine phosphoribosyltransferase deficiency
Correction: HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?
hypoxanthine phosphoribosyltransferase deficiency
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
hypoxanthine phosphoribosyltransferase deficiency
De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes.
hypoxanthine phosphoribosyltransferase deficiency
Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
hypoxanthine phosphoribosyltransferase deficiency
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.
hypoxanthine phosphoribosyltransferase deficiency
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
hypoxanthine phosphoribosyltransferase deficiency
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
hypoxanthine phosphoribosyltransferase deficiency
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
hypoxanthine phosphoribosyltransferase deficiency
Disorders associated with purine and pyrimidine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem: possible pharmacological model for Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells.
hypoxanthine phosphoribosyltransferase deficiency
Effect of temperature on mutation in cultured human skin fibroblasts.
hypoxanthine phosphoribosyltransferase deficiency
Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Effects of thymidine kinase and methyltransferase deficiency on mutagenesis in a human lymphoblastoid cell line.
hypoxanthine phosphoribosyltransferase deficiency
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine 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.
hypoxanthine phosphoribosyltransferase deficiency
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
hypoxanthine phosphoribosyltransferase deficiency
Elevated aspartate transcarbamylase and dihydroorotase activities in erythrocytes from patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Elevated intracellular glycine associated with hypoxanthine-guanine phosphoribosyltransferase deficiency in glioma cells.
hypoxanthine phosphoribosyltransferase deficiency
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
hypoxanthine phosphoribosyltransferase deficiency
Enzyme activity and brain anatomy: lessons from HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Erythrocyte ITP pyrophosphohydrolase deficiency in a psychiatric population.
hypoxanthine phosphoribosyltransferase deficiency
Erythrocyte nucleotide variations in hypoxanthine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Erythrocyte PRPP concentrations in heterozygotes for HGPRTase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Evaluation of the severity of hypoxanthine-guanine phosphoribosyltransferase deficiency using viable T cells.
hypoxanthine phosphoribosyltransferase deficiency
Excess release of hypoxanthine from exercising muscle in two gout patients with partial HGPRTase deficiency: lack of ammonium release.
hypoxanthine phosphoribosyltransferase deficiency
Expression of human HPRT in the central nervous system of transgenic mice.
hypoxanthine phosphoribosyltransferase deficiency
Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Gene replacement therapy for inborn errors of purine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
hypoxanthine phosphoribosyltransferase deficiency
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
hypoxanthine phosphoribosyltransferase deficiency
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
hypoxanthine phosphoribosyltransferase deficiency
Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
hypoxanthine phosphoribosyltransferase deficiency
HGPRT-positive and HGPRT-negative erythrocytes in heterozygotes for HGPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
hypoxanthine phosphoribosyltransferase deficiency
HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.
hypoxanthine phosphoribosyltransferase deficiency
HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.
hypoxanthine phosphoribosyltransferase deficiency
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
hypoxanthine phosphoribosyltransferase deficiency
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.
hypoxanthine phosphoribosyltransferase deficiency
HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?
hypoxanthine phosphoribosyltransferase deficiency
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
hypoxanthine phosphoribosyltransferase deficiency
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
hypoxanthine phosphoribosyltransferase deficiency
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
hypoxanthine phosphoribosyltransferase deficiency
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
hypoxanthine phosphoribosyltransferase deficiency
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
hypoxanthine phosphoribosyltransferase deficiency
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
hypoxanthine phosphoribosyltransferase deficiency
Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.
hypoxanthine phosphoribosyltransferase deficiency
Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
hypoxanthine phosphoribosyltransferase deficiency
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine phosphoribosyl transferase deficiency, haematopoiesis and fertility in the mouse.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyl transferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyl transferase: assay using high performance liquid chromatography.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosylotransferase deficiency-The spectrum of Polish mutations.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
hypoxanthine phosphoribosyltransferase deficiency
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 phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
hypoxanthine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase: a simple spectrophotometric assay.
hypoxanthine phosphoribosyltransferase deficiency
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
hypoxanthine phosphoribosyltransferase 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.
hypoxanthine phosphoribosyltransferase deficiency
Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient.
hypoxanthine phosphoribosyltransferase deficiency
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.
hypoxanthine phosphoribosyltransferase deficiency
Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
hypoxanthine phosphoribosyltransferase deficiency
Immunological aspects of purine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Impaired P2X and P2Y receptor-mediated signaling in HPRT-deficient B103 neuroblastoma cells.
hypoxanthine phosphoribosyltransferase deficiency
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.
hypoxanthine phosphoribosyltransferase deficiency
Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.
hypoxanthine phosphoribosyltransferase deficiency
Induction of hypoxanthine phosphoribosyltransferase deficiency in human U-937 cells.
hypoxanthine phosphoribosyltransferase deficiency
Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Inheritance of hypoxanthine-guanine phosphoribosyltransferase deficiency and detection of heterozygotes.
hypoxanthine phosphoribosyltransferase deficiency
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
hypoxanthine phosphoribosyltransferase deficiency
Isolation and preliminary characterization of drug resistant mutants of human lymphoblastoid cells.
hypoxanthine phosphoribosyltransferase deficiency
Karyotype evolution of the simian virus 40--transformed human cell line LNSV.
hypoxanthine phosphoribosyltransferase deficiency
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine 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.
hypoxanthine phosphoribosyltransferase deficiency
Late diagnosis of Lesch-Nyhan disease variant.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.
hypoxanthine phosphoribosyltransferase deficiency
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
hypoxanthine phosphoribosyltransferase deficiency
Levels of hypoxanthine phosphoribosyltransferase RNA in human cells.
hypoxanthine phosphoribosyltransferase deficiency
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases.
hypoxanthine phosphoribosyltransferase deficiency
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
hypoxanthine phosphoribosyltransferase deficiency
MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of mutations induced by 4'-hydroxymethyl-4,5',8-trimethylpsoralen and UVA in the mouse HPRT gene.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Molecular and tissue-specific heterogeneity in HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
hypoxanthine phosphoribosyltransferase deficiency
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
hypoxanthine phosphoribosyltransferase deficiency
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
hypoxanthine phosphoribosyltransferase deficiency
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
hypoxanthine phosphoribosyltransferase deficiency
Molecular genetics of HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
hypoxanthine phosphoribosyltransferase deficiency
Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
hypoxanthine phosphoribosyltransferase deficiency
Mouse models of hypoxanthine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Mutagen sensitivity in thymidine kinase- and methyltransferase-deficient human lymphoblastoid cells.
hypoxanthine phosphoribosyltransferase deficiency
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
hypoxanthine phosphoribosyltransferase deficiency
NAD metabolism in HPRT-deficient mice.
hypoxanthine phosphoribosyltransferase deficiency
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
hypoxanthine phosphoribosyltransferase deficiency
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain.
hypoxanthine phosphoribosyltransferase deficiency
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
hypoxanthine phosphoribosyltransferase deficiency
Nitrofurazone--genotoxicity studies in mammalian cells in vitro and in vivo.
hypoxanthine phosphoribosyltransferase deficiency
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Normal HPRT coding region in a male with gout due to HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Normal HPRT coding region in complete and partial HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Normal hypoxanthine and ammonia release from working muscle in partial HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
hypoxanthine phosphoribosyltransferase deficiency
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
hypoxanthine phosphoribosyltransferase deficiency
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
hypoxanthine phosphoribosyltransferase deficiency
Ocular motor dysfunction in Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
hypoxanthine phosphoribosyltransferase deficiency
Partial characterization of the proteome of the mouse striatum.
hypoxanthine phosphoribosyltransferase deficiency
Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
hypoxanthine phosphoribosyltransferase deficiency
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
hypoxanthine phosphoribosyltransferase deficiency
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
hypoxanthine phosphoribosyltransferase deficiency
Partial HPRT deficiency : heterozygotes exhibit one cell population in intact cell assays.
hypoxanthine phosphoribosyltransferase deficiency
Partial HPRT deficiency phenotype and incomplete splicing mutation.
hypoxanthine phosphoribosyltransferase deficiency
Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.
hypoxanthine phosphoribosyltransferase deficiency
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
hypoxanthine phosphoribosyltransferase deficiency
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
hypoxanthine phosphoribosyltransferase deficiency
Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.
hypoxanthine phosphoribosyltransferase deficiency
Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
hypoxanthine phosphoribosyltransferase deficiency
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
hypoxanthine phosphoribosyltransferase deficiency
Properties of erythrocyte purine phosphoribosyltransferases in partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
hypoxanthine phosphoribosyltransferase deficiency
Purine base incorporation into erythrocyte nucleotides in hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Purine enzyme defects as a cause of acute renal failure in childhood.
hypoxanthine phosphoribosyltransferase deficiency
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine 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.
hypoxanthine phosphoribosyltransferase deficiency
Purine synthesis during amino acid starvation of lymphoblasts with HPRT deficiency or PP-ribose-P synthetase overactivity decreases less than in normal cells.
hypoxanthine phosphoribosyltransferase deficiency
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
hypoxanthine phosphoribosyltransferase deficiency
Quantitative evaluation of the clinical effects of s-adenosylmethionine on mood and behavior in lesch-nyhan patients.
hypoxanthine phosphoribosyltransferase deficiency
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
hypoxanthine phosphoribosyltransferase deficiency
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
hypoxanthine phosphoribosyltransferase deficiency
Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice.
hypoxanthine phosphoribosyltransferase deficiency
Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography.
hypoxanthine phosphoribosyltransferase deficiency
Selecting for and Checking Cells with HGPRT Deficiency for Hybridoma Production.
hypoxanthine phosphoribosyltransferase deficiency
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
hypoxanthine phosphoribosyltransferase deficiency
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
hypoxanthine phosphoribosyltransferase deficiency
Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.
hypoxanthine phosphoribosyltransferase deficiency
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40.
hypoxanthine phosphoribosyltransferase deficiency
Stable gene expression from a mammalian artificial chromosome.
hypoxanthine phosphoribosyltransferase deficiency
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
hypoxanthine phosphoribosyltransferase deficiency
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.
hypoxanthine phosphoribosyltransferase deficiency
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.
hypoxanthine phosphoribosyltransferase 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.
hypoxanthine phosphoribosyltransferase deficiency
Telos, Conservation of Welfare, and Ethical Issues in Genetic Engineering of Animals.
hypoxanthine phosphoribosyltransferase deficiency
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
hypoxanthine phosphoribosyltransferase deficiency
The diagnosis of HPRT deficiency in the 21st century.
hypoxanthine phosphoribosyltransferase deficiency
The DNA tumor virus SV 40 induces gene mutations in human cells. Reversion of HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation.
hypoxanthine phosphoribosyltransferase deficiency
The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
hypoxanthine phosphoribosyltransferase deficiency
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
hypoxanthine phosphoribosyltransferase deficiency
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
hypoxanthine phosphoribosyltransferase deficiency
The role of the HPRT gene in human disease.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of HPRT deficiency: an update.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
hypoxanthine phosphoribosyltransferase deficiency
The spectrum of mutations causing HPRT deficiency: an update.
hypoxanthine phosphoribosyltransferase deficiency
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Transfection by genomic DNA of cytochrome P1-450 enzymatic activity and inducibility.
hypoxanthine phosphoribosyltransferase deficiency
Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
hypoxanthine phosphoribosyltransferase deficiency
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Update on the phenotypic spectrum of lesch-nyhan disease and its attenuated variants.
hypoxanthine phosphoribosyltransferase deficiency
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
hypoxanthine phosphoribosyltransferase deficiency
Urate metabolism in heterozygotes for HGPRTase deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
hypoxanthine phosphoribosyltransferase deficiency
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.
hypoxanthine phosphoribosyltransferase deficiency
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
hypoxanthine phosphoribosyltransferase deficiency
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.
hypoxanthine phosphoribosyltransferase deficiency
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
hypoxanthine phosphoribosyltransferase deficiency
X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.
hypoxanthine phosphoribosyltransferase deficiency
[A family of hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders (author's transl)]
hypoxanthine phosphoribosyltransferase deficiency
[Abnormalities in urate metabolism: concept and classification]
hypoxanthine phosphoribosyltransferase deficiency
[African green monkey cell line RAMP simultaneously resistant to 8-azaguanine, 6-mercaptopurine, and 6-thioguanine]
hypoxanthine phosphoribosyltransferase deficiency
[Biochemical, enzymatic and genetic study of hypoxanthine guanine phosphoribosyl transferase (HPRT) deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Characterization of a human lymphoid line with HGPRTase deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]
hypoxanthine phosphoribosyltransferase deficiency
[Complete and partial deficiency of HPRT]
hypoxanthine phosphoribosyltransferase deficiency
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
hypoxanthine phosphoribosyltransferase deficiency
[Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect]
hypoxanthine phosphoribosyltransferase deficiency
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
hypoxanthine phosphoribosyltransferase deficiency
[Gene therapy for genetic disorders of purine metabolism]
hypoxanthine phosphoribosyltransferase deficiency
[HPRT deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Hypoxanthine-guanine phosphoribosyltransferase deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency]
hypoxanthine phosphoribosyltransferase deficiency
[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases]
hypoxanthine phosphoribosyltransferase deficiency
[The Lesch-Nyhan syndrome]
hypoxanthine phosphoribosyltransferase deficiency
[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.
Infections
An infectious transfer and expression system for genomic DNA loci in human and mouse cells.
Infections
Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectors.
Infections
Endogenous HPRT activity in mycoplasmas isolated from cell cultures.
Infections
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Infections
Gene expression from transcriptionally disabled retroviral vectors.
Infections
Hypoxanthine-guanine phosphoribosyltransferase as a therapeutic target in protozoal infections.
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.
Infections
Increased frequency of specific locus mutation following human cytomegalovirus infection.
Infections
Increased mutation frequency after herpes simplex virus type 2 infection in non-permissive XC cells.
Infections
Infection with adeno-associated virus type 5 inhibits mutagenicity of herpes simplex virus type 1 or 4-nitroquinoline-1-oxide.
Infections
PfHPRT: A New Biomarker Candidate of Acute Plasmodium falciparum Infection.
Infections
Purine enzyme activities in recent onset rheumatoid arthritis: are there differences between patients and healthy controls?
Infections
Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells.
Infections
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.
Infections
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.
Inflammatory Bowel Diseases
Hypoxanthine guanine phosphoribosyltransferase activity is related to 6-thioguanine nucleotide concentrations and thiopurine-induced leukopenia in the treatment of inflammatory bowel disease.
Inflammatory Bowel Diseases
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.
Inflammatory Bowel Diseases
Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease.
Inflammatory Bowel Diseases
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.
Intellectual Disability
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Intellectual Disability
Dopaminergic mechanisms in self-inflicting biting behavior.
Intellectual Disability
Expression of human HPRT in the central nervous system of transgenic mice.
Intellectual Disability
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Intellectual Disability
Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.
Intellectual Disability
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Intellectual Disability
Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
Intellectual Disability
Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production.
Intellectual Disability
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Intellectual Disability
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Intellectual Disability
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Intellectual Disability
Purine and pyrimidine metabolites in children's urine.
Intellectual Disability
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Intellectual Disability
Telos, Conservation of Welfare, and Ethical Issues in Genetic Engineering of Animals.
Intellectual Disability
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
Intellectual Disability
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Intellectual Disability
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
Intellectual Disability
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Intellectual Disability
[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency]
Joint Diseases
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Joint Diseases
[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.
Leishmaniasis
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.
Lesch-Nyhan Syndrome
A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
Lesch-Nyhan Syndrome
A deficiency of hypoxanthine phosphoribosyltransferase in a sycamore callus resistant to azaguanine.
Lesch-Nyhan Syndrome
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat.
Lesch-Nyhan Syndrome
A female case of the Leach-Nyhan syndrome.
Lesch-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.
Lesch-Nyhan Syndrome
A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
A human neuronal tissue culture model for Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
Lesch-Nyhan Syndrome
A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling.
Lesch-Nyhan Syndrome
A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
Lesch-Nyhan Syndrome
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report.
Lesch-Nyhan Syndrome
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Lesch-Nyhan Syndrome
A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.
Lesch-Nyhan Syndrome
Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients.
Lesch-Nyhan Syndrome
Abnormal development of hypoxanthine-guanine phosphoribosyltransferase-deficient CNS neuroblastoma.
Lesch-Nyhan Syndrome
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Lesch-Nyhan Syndrome
Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo.
Lesch-Nyhan Syndrome
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients.
Lesch-Nyhan Syndrome
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.
Lesch-Nyhan Syndrome
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
Lesch-Nyhan Syndrome
Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis.
Lesch-Nyhan Syndrome
Aicar effect in early neuronal development.
Lesch-Nyhan Syndrome
Allopurinol in renal failure and the tumour lysis syndrome.
Lesch-Nyhan Syndrome
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
Lesch-Nyhan Syndrome
Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Altered histamine neurotransmission in HPRT-deficient mice.
Lesch-Nyhan Syndrome
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
Lesch-Nyhan Syndrome
Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.
Lesch-Nyhan Syndrome
An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes.
Lesch-Nyhan Syndrome
An unexpected affected female patient in a classical Lesch-Nyhan family.
Lesch-Nyhan Syndrome
Animal models of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Approaching the transition state in the crystal structure of a phosphoribosyltransferase.
Lesch-Nyhan Syndrome
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Attenuated variants of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.
Lesch-Nyhan Syndrome
Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Lesch-Nyhan Syndrome
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Brain purines in a genetic mouse model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
Lesch-Nyhan Syndrome
Carrier state in HGPRT deficiency. A study in 14 Spanish families.
Lesch-Nyhan Syndrome
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.
Lesch-Nyhan Syndrome
Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.
Lesch-Nyhan Syndrome
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Lesch-Nyhan Syndrome
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
Lesch-Nyhan Syndrome
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Lesch-Nyhan Syndrome
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Lesch-Nyhan Syndrome
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Lesch-Nyhan Syndrome
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
Lesch-Nyhan Syndrome
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
Lesch-Nyhan Syndrome
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
Lesch-Nyhan Syndrome
Crystal structure of Toxoplasma gondii hypoxanthine-guanine phosphoribosyltransferase with XMP, pyrophosphate, and two Mg(2+) ions bound: insights into the catalytic mechanism.
Lesch-Nyhan Syndrome
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Lesch-Nyhan Syndrome
Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice.
Lesch-Nyhan Syndrome
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes.
Lesch-Nyhan Syndrome
Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.
Lesch-Nyhan Syndrome
Deficiency of the Housekeeping Gene Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Delineation of the motor disorder of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography.
Lesch-Nyhan Syndrome
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
Lesch-Nyhan Syndrome
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
Lesch-Nyhan Syndrome
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
Lesch-Nyhan Syndrome
Diploid Azaguanine-Resistant Mutants of Cultured Human Fibroblasts.
Lesch-Nyhan Syndrome
Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report.
Lesch-Nyhan Syndrome
Disorders of purines and pyrimidines.
Lesch-Nyhan Syndrome
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Lesch-Nyhan Syndrome
Dopamine agonist induced self-mutilative biting behavior in monkeys with unilateral ventromedial tegmental lesions of the brainstem: possible pharmacological model for Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells.
Lesch-Nyhan Syndrome
Dopaminergic mechanisms in self-inflicting biting behavior.
Lesch-Nyhan Syndrome
Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.
Lesch-Nyhan Syndrome
Effects of thymidine kinase and methyltransferase deficiency on mutagenesis in a human lymphoblastoid cell line.
Lesch-Nyhan Syndrome
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator-Like Effector Nuclease Proteins.
Lesch-Nyhan Syndrome
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Lesch-Nyhan Syndrome
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Elevated aspartate transcarbamylase and dihydroorotase activities in erythrocytes from patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
Lesch-Nyhan Syndrome
Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes.
Lesch-Nyhan Syndrome
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Erythrocyte nucleotide variations in hypoxanthine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Evaluation of the severity of hypoxanthine-guanine phosphoribosyltransferase deficiency using viable T cells.
Lesch-Nyhan Syndrome
Expression of human HPRT in the central nervous system of transgenic mice.
Lesch-Nyhan Syndrome
Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Lesch-Nyhan Syndrome
Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism.
Lesch-Nyhan Syndrome
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
Lesch-Nyhan Syndrome
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.
Lesch-Nyhan Syndrome
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Gene duplication and inactivation in the HPRT gene family.
Lesch-Nyhan Syndrome
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Gene therapy and the brain.
Lesch-Nyhan Syndrome
Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
Lesch-Nyhan Syndrome
Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
Lesch-Nyhan Syndrome
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
Lesch-Nyhan Syndrome
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase.
Lesch-Nyhan Syndrome
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Lesch-Nyhan Syndrome
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Lesch-Nyhan Syndrome
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures.
Lesch-Nyhan Syndrome
Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Gout, uric acid and purine metabolism in paediatric nephrology.
Lesch-Nyhan Syndrome
Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Herpes simplex virus-mediated human hypoxanthine-guanine phosphoribosyltransferase gene transfer into neuronal cells.
Lesch-Nyhan Syndrome
Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
Lesch-Nyhan Syndrome
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
Lesch-Nyhan Syndrome
HGPRT-positive and HGPRT-negative erythrocytes in heterozygotes for HGPRT deficiency.
Lesch-Nyhan Syndrome
High HPRT activity in fibroblasts from patients with Lesch-Nyhan syndrome due to bacterial "L-form" contamination.
Lesch-Nyhan Syndrome
HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Lesch-Nyhan Syndrome
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Lesch-Nyhan Syndrome
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Lesch-Nyhan Syndrome
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Lesch-Nyhan Syndrome
Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms.
Lesch-Nyhan Syndrome
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Lesch-Nyhan Syndrome
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Lesch-Nyhan Syndrome
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Lesch-Nyhan Syndrome
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Lesch-Nyhan Syndrome
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
Lesch-Nyhan Syndrome
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.
Lesch-Nyhan Syndrome
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
Lesch-Nyhan Syndrome
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase-deficiency produces aberrant neurite outgrowth of rodent neuroblastoma used to model the neurological disorder Lesch Nyhan syndrome.
Lesch-Nyhan Syndrome
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.
Lesch-Nyhan Syndrome
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Lesch-Nyhan Syndrome
Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females.
Lesch-Nyhan Syndrome
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Identification of Novel Mutations in the Human HPRT Gene.
Lesch-Nyhan Syndrome
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Lesch-Nyhan Syndrome
Immunological studies of hypoxanthine-guanine phosphoribosyltransferase in Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Impaired P2X and P2Y receptor-mediated signaling in HPRT-deficient B103 neuroblastoma cells.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Incorporation of hypoxanthine into adenine and guanine nucleotides by human platelets.
Lesch-Nyhan Syndrome
Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.
Lesch-Nyhan Syndrome
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Induction of hypoxanthine phosphoribosyltransferase deficiency in human U-937 cells.
Lesch-Nyhan Syndrome
Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
Lesch-Nyhan Syndrome
Inherited purine enzyme deficiencies: prenatal diagnosis and heterozygote detection.
Lesch-Nyhan Syndrome
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: preliminary in vitro studies with analogues of immucillin-G.
Lesch-Nyhan Syndrome
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Lesch-Nyhan Syndrome
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Lesch-Nyhan Syndrome
Isolation and preliminary characterization of drug resistant mutants of human lymphoblastoid cells.
Lesch-Nyhan Syndrome
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Kinetic mechanism of human hypoxanthine-guanine phosphoribosyltransferase: rapid phosphoribosyl transfer chemistry.
Lesch-Nyhan Syndrome
Late diagnosis of Lesch-Nyhan disease variant.
Lesch-Nyhan Syndrome
Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease and the basal ganglia.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease with no HPRT1 gene mutation?
Lesch-Nyhan Syndrome
Lesch-Nyhan disease: from mechanism to model and back again.
Lesch-Nyhan Syndrome
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome, caffeine model: increase of purine and pyrimidine enzymes in rat brain.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome. A case report.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Lesch-Nyhan Syndrome
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
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome: carrier and prenatal diagnosis.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture.
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome: Models, Theories, and Therapies.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.
Lesch-Nyhan Syndrome
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
Lesch-Nyhan Syndrome: report on two brothers.
Lesch-Nyhan Syndrome
Lesch-nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Lesch-Nyhan Syndrome
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Lesch-Nyhan Syndrome
Limited value of uric acid to creatinine ratios in estimating uric acid excretion.
Lesch-Nyhan Syndrome
Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization.
Lesch-Nyhan Syndrome
Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo.
Lesch-Nyhan Syndrome
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Lesch-Nyhan Syndrome
Metabolic disorders of purine metabolism affecting the nervous system.
Lesch-Nyhan Syndrome
Methotrexate inhibits superoxide production and chemotaxis in neutrophils activated by granulocyte colony-stimulating factor.
Lesch-Nyhan Syndrome
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Lesch-Nyhan Syndrome
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Lesch-Nyhan Syndrome
MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
Lesch-Nyhan Syndrome
MicroRNAs: Tools of Mechanistic Insights and Biological Therapeutics Discovery for the Rare Neurogenetic Syndrome Lesch-Nyhan Disease (LND).
Lesch-Nyhan Syndrome
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Lesch-Nyhan Syndrome
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Lesch-Nyhan Syndrome
Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
Lesch-Nyhan Syndrome
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
Lesch-Nyhan Syndrome
Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations.
Lesch-Nyhan Syndrome
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Lesch-Nyhan Syndrome
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
Lesch-Nyhan Syndrome
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Lesch-Nyhan Syndrome
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Lesch-Nyhan Syndrome
Molecular characterization and structure analysis of hprt in a chinese patient with lesch-nyhan disease.
Lesch-Nyhan Syndrome
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
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.
Lesch-Nyhan Syndrome
Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome.
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.
Lesch-Nyhan Syndrome
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Lesch-Nyhan Syndrome
Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).
Lesch-Nyhan Syndrome
Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Lesch-Nyhan Syndrome
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity.
Lesch-Nyhan Syndrome
Mouse models of hypoxanthine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes.
Lesch-Nyhan Syndrome
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Lesch-Nyhan Syndrome
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Lesch-Nyhan Syndrome
NAD metabolism in HPRT-deficient mice.
Lesch-Nyhan Syndrome
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Lesch-Nyhan Syndrome
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
Lesch-Nyhan Syndrome
New mutations of the HPRT gene in Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.
Lesch-Nyhan Syndrome
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Lesch-Nyhan Syndrome
Normal HPRT coding region in complete and partial HPRT deficiency.
Lesch-Nyhan Syndrome
Normal Uricemia in Lesch-Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child-A Case Report and Literature Review.
Lesch-Nyhan Syndrome
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Lesch-Nyhan Syndrome
Novel mutation in HPRT1 causing a splicing error with multiple variations.
Lesch-Nyhan Syndrome
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Novel Mutations in the Human HPRT Gene.
Lesch-Nyhan Syndrome
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Oral self-mutilation in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
Lesch-Nyhan Syndrome
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Lesch-Nyhan Syndrome
Partial HPRT deficiency phenotype and incomplete splicing mutation.
Lesch-Nyhan Syndrome
Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
Lesch-Nyhan Syndrome
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Lesch-Nyhan Syndrome
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Lesch-Nyhan Syndrome
Pathogenesis of hyperuricemia: recent advances.
Lesch-Nyhan Syndrome
Pharmacologic thresholds for self-injurious behavior in a genetic mouse model of Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Lesch-Nyhan Syndrome
Polycyclic aromatic hydrocarbon mutagenesis of human epidermal keratinocytes in culture.
Lesch-Nyhan Syndrome
Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain.
Lesch-Nyhan Syndrome
Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
Lesch-Nyhan Syndrome
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
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.
Lesch-Nyhan Syndrome
Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.
Lesch-Nyhan Syndrome
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Lesch-Nyhan Syndrome
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
Lesch-Nyhan Syndrome
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
Lesch-Nyhan Syndrome
Purine and pyrimidine metabolites in children's urine.
Lesch-Nyhan Syndrome
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.
Lesch-Nyhan Syndrome
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Lesch-Nyhan Syndrome
Quantitative evaluation of the clinical effects of s-adenosylmethionine on mood and behavior in lesch-nyhan patients.
Lesch-Nyhan Syndrome
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
Lesch-Nyhan Syndrome
Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine.
Lesch-Nyhan Syndrome
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
Lesch-Nyhan Syndrome
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
Lesch-Nyhan Syndrome
Regulation of purine de novo synthesis in cultured human fibroblasts: the role of P-ribose-PP.
Lesch-Nyhan Syndrome
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
Lesch-Nyhan Syndrome
Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Lesch-Nyhan Syndrome
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography.
Lesch-Nyhan Syndrome
Selecting for and Checking Cells with HGPRT Deficiency for Hybridoma Production.
Lesch-Nyhan Syndrome
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
Lesch-Nyhan Syndrome
Self-mutilation behaviour in Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Self-mutilation in the Lesch-Nyhan syndrome: a corporal consciousness problem?--a new hypothesis.
Lesch-Nyhan Syndrome
Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients.
Lesch-Nyhan Syndrome
Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.
Lesch-Nyhan Syndrome
Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
Lesch-Nyhan Syndrome
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Lesch-Nyhan Syndrome
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.
Lesch-Nyhan Syndrome
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.
Lesch-Nyhan Syndrome
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis.
Lesch-Nyhan Syndrome
Targeted gene correction of hprt mutations by 45 base single-stranded oligonucleotides.
Lesch-Nyhan Syndrome
Teratocarcinoma cells as vehicles for mutant and foreign genes.
Lesch-Nyhan Syndrome
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Lesch-Nyhan Syndrome
The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.
Lesch-Nyhan Syndrome
The diagnosis of HPRT deficiency in the 21st century.
Lesch-Nyhan Syndrome
The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.
Lesch-Nyhan Syndrome
The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation.
Lesch-Nyhan Syndrome
The human ?-amyloid precursor protein: biomolecular and epigenetic aspects.
Lesch-Nyhan Syndrome
The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.
Lesch-Nyhan Syndrome
The Lesch-Nyhan syndrome: a family study.
Lesch-Nyhan Syndrome
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.
Lesch-Nyhan Syndrome
The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.
Lesch-Nyhan Syndrome
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
Lesch-Nyhan Syndrome
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
Lesch-Nyhan Syndrome
The role of de novo purine synthesis in lymphocyte transformation.
Lesch-Nyhan Syndrome
The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
Lesch-Nyhan Syndrome
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Lesch-Nyhan Syndrome
The spectrum of mutations causing HPRT deficiency: an update.
Lesch-Nyhan Syndrome
The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.
Lesch-Nyhan Syndrome
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Lesch-Nyhan Syndrome
Tissue-specific aberrations of gene expression in HPRT-deficient mice: functional complexity in a monogenic disease?
Lesch-Nyhan Syndrome
Transcriptomic approach to Lesch-Nyhan disease.
Lesch-Nyhan Syndrome
Transfection by genomic DNA of cytochrome P1-450 enzymatic activity and inducibility.
Lesch-Nyhan Syndrome
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl.
Lesch-Nyhan Syndrome
Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Lesch-Nyhan Syndrome
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
Lesch-Nyhan Syndrome
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.
Lesch-Nyhan Syndrome
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Lesch-Nyhan Syndrome
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.
Lesch-Nyhan Syndrome
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
Lesch-Nyhan Syndrome
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Lesch-Nyhan Syndrome
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
Lesch-Nyhan Syndrome
[A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene]
Lesch-Nyhan Syndrome
[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]
Lesch-Nyhan Syndrome
[African green monkey cell line RAMP simultaneously resistant to 8-azaguanine, 6-mercaptopurine, and 6-thioguanine]
Lesch-Nyhan Syndrome
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]
Lesch-Nyhan Syndrome
[Complete and partial deficiency of HPRT]
Lesch-Nyhan Syndrome
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
Lesch-Nyhan Syndrome
[Deficiency of hypoxanthine phosphoribosyltransferase (HPRT)]
Lesch-Nyhan Syndrome
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
Lesch-Nyhan Syndrome
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
Lesch-Nyhan Syndrome
[Lesch-Nyhan syndrome with total deficiency of the enzyme hypoxanthine phosphoribosyltransferase]
Lesch-Nyhan Syndrome
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
Lesch-Nyhan Syndrome
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency]
Lesch-Nyhan Syndrome
[Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members]
Lesch-Nyhan Syndrome
[The demonstration of hypoxanthine-guanine phosphoribosyl transferase enzyme protein in Lesch-Nyhan Syndrome]
Lesch-Nyhan Syndrome
[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases]
Lesch-Nyhan Syndrome
[The Lesch-Nyhan syndrome]
Lesch-Nyhan Syndrome
[Treatment of Lesch-Nyhan syndrome]
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.
Leukemia
Analysis of hprt gene mutation following anti-cancer treatment in pediatric patients with acute leukemia.
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.
Leukemia
Analysis of spontaneous, gamma ray- and ethylnitrosourea-induced hprt mutants in HL-60 cells with multiplex PCR.
Leukemia
Characterization of the metabolic forms of 6-thioguanine responsible for cytotoxicity and induction of differentiation of HL-60 acute promyelocytic leukemia cells.
Leukemia
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.
Leukemia
Construction of a defective retrovirus containing the human hypoxanthine phosphoribosyltransferase cDNA and its expression in cultured cells and mouse bone marrow.
Leukemia
Determinants of sensitivity of human T-cell leukemia CCRF-CEM cells to immucillin-H.
Leukemia
Effect of ethylnitrosourea on HPRT gene in human promyelocytic leukemia cells.
Leukemia
Enhancement of the differentiation-inducing properties of 6-thioguanine by hypoxanthine and its nucleosides in HL-60 promyelocytic leukemia cells.
Leukemia
Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.
Leukemia
Factors affecting long-term stability of Moloney murine leukemia virus-based vectors.
Leukemia
Gene therapy for thioguanine-resistant human leukemia.
Leukemia
Gestational age and gender-specific in utero V(D)J recombinase-mediated deletions.
Leukemia
Guanine analog-induced differentiation of human promyelocytic leukemia cells and changes in queuine modification of tRNA.
Leukemia
hprt mutant frequencies, nonpulmonary malignancies, and domestic radon exposure: "postmortem" analysis of an interesting hypothesis.
Leukemia
HPRT mutations in vivo in human CD 34+ hematopoietic stem cells.
Leukemia
Increased mutant frequencies in the HPRT gene locus of leukemia HL-60 cells treated with succinylacetone.
Leukemia
Induction of leukemia cell differentiation by chemotherapeutic agents.
Leukemia
Molecular analysis of spontaneous hypoxanthine phosphoribosyltransferase mutations in thioguanine-resistant HL-60 human leukemia cells.
Leukemia
Molecular analysis of Tripterygium hypoglaucum (level) Hutch-induced mutations at the HPRT locus in human promyelocytic leukemia cells by multiplex polymerase chain reaction.
Leukemia
Moloney murine leukemia reverse transcriptase suspect in the production of multiple misincorporations during hprt cDNA synthesis.
Leukemia
Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: comparison with HPRT locus mutation.
Leukemia
Tissue specific toxicities of the anticancer drug 6-thioguanine is dependent on the Hprt status in transgenic mice.
Leukemia
Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies.
Leukemia
[Abnormalities in urate metabolism: concept and classification]
Leukemia
[Continuous expression of induced differentiation characters in a HGPRT human promyelocytic leukemia cell mutant (HL-60-AR)]
Leukemia
[Establishment of human promyelocytic leukemia cell mutant (HL-60-AR) with characteristics of resistance to 8-AG and deficiency in HGPRT]
Leukemia
[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.
Leukemia, Erythroblastic, Acute
Impairment of nucleotide excision repair by apoptosis in UV-irradiated mouse cells.
Leukemia, Erythroblastic, Acute
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.
Leukemia, Lymphocytic, Chronic, B-Cell
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.
Leukemia, Myeloid, Acute
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.
Lung Injury
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.
Lung Neoplasms
Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.
Lung Neoplasms
Effect of TEI-6720, a xanthine oxidase inhibitor, on the nucleoside transport in the lung cancer cell line A549.
Lung Neoplasms
Hprt mutant frequency and aromatic DNA adduct level in non-smoking and smoking lung cancer patients and population controls.
Lung Neoplasms
Mutant frequency at the hprt locus in human lymphocytes in a case-control study of lung cancer.
Lung Neoplasms
Mutation frequency and spectrum in lymphocytes of small cell lung cancer patients receiving etoposide chemotherapy.
Lung Neoplasms
Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients.
Lung Neoplasms
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
Lung Neoplasms
Reference genes for gene expression studies on non-small cell lung cancer.
Lung Neoplasms
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.
Lung Neoplasms
[An HGPRT defective mouse lung cancer cell line and its biological characteristics.]
Lung Neoplasms
[Establishment of mutant strain from human lung cancer cell (A549) with characteristics of resistance to 8-AG and HGPRT deficiency]
Lung Neoplasms
[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.
Lymphoma
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.
Lymphoma
An assessment of the genotoxicity and human health risk of topical use of kojic acid [5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one].
Lymphoma
Anomalous genotoxic responses induced in mouse lymphoma L5178Y cells by potassium bromate.
Lymphoma
Bromate induces loss of heterozygosity in the thymidine kinase gene of L5178Y/Tk(+/-)-3.7.2C mouse lymphoma cells.
Lymphoma
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.
Lymphoma
Culture conditions for a human lymphoma cell line (Raji) and their application to mutation research.
Lymphoma
Differential mutant quantitation at the mouse lymphoma tk and CHO hgprt loci.
Lymphoma
Engineering a mini-herpesvirus as a general strategy to transduce up to 180 kb of functional self-replicating human mini-chromosomes.
Lymphoma
Establishment of a dose-response relationship for reverse mutation at the HPRT (hypoxanthine guanine phosphoribosyl transferase) locus L5178Y mouse lymphoma cells.
Lymphoma
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Lymphoma
Final report on the safety assessment of HC Red No. 7.
Lymphoma
Genotoxic effects of p-aminophenol in Chinese hamster ovary and mouse lymphoma cells: results of a multiple endpoint test.
Lymphoma
Genotoxicity and carcinogenicity studies of antihypertensive agents.
Lymphoma
Genotoxicity assessment of the flavouring agent, perillaldehyde.
Lymphoma
Genotoxicity of 2-amino-6-N-hydroxyadenine (AHA) to mouse lymphoma and CHO cells.
Lymphoma
Genotoxicity tests for new chemicals in Germany: routine in vitro test systems.
Lymphoma
Hypoxanthine-guanine phosphoribosyl transferase with altered substrate affinity in mutant mouse lymphoma cells.
Lymphoma
Impairment of nucleotide excision repair by apoptosis in UV-irradiated mouse cells.
Lymphoma
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).
Lymphoma
In vitro genotoxicity of para-phenylenediamine and its N-monoacetyl or N,N'-diacetyl metabolites.
Lymphoma
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.
Lymphoma
Locus specificity of mutagenicity of 2,4-diaminotoluene in both L5178Y mouse lymphoma and AT3-2 Chinese hamster ovary cells.
Lymphoma
Molecular analysis of mutations induced by N-ethyl-N-nitrosourea at the HPRT locus in mouse lymphoma cells.
Lymphoma
Murine lymphoma L5178Y cells resistant to purine antagonists: differences in cross-resistance to thioguanine-platinum(II) and selenoguanine-platinum(II).
Lymphoma
Mutagenesis of L5178Y/TK(+/-)-3.7.2C mouse lymphoma cells by the clastogen ellipticine.
Lymphoma
Mutagenic activity of acrylamide in eukaryotic systems but not in bacteria.
Lymphoma
Mutagenicity of methyl bromide in a series of short-term tests.
Lymphoma
Mutagenicity of the mycotoxin alternariol in cultured mammalian cells.
Lymphoma
Mutant frequency and mutational spectra in the Tk and Hprt genes of N-ethyl-N-nitrosourea-treated mouse lymphoma cellsdagger.
Lymphoma
Nucleotide sequence determination of point mutations at the mouse HPRT locus using in vitro amplification of HPRT mRNA sequences.
Lymphoma
Ochratoxin A-induced mutagenesis in mammalian cells is consistent with the production of oxidative stress.
Lymphoma
The mutagenic activity of ethylmethanesulphonate, benzidine and benzo[a]pyrene at the hprt locus of wild-type L5178Y mouse lymphoma cells.
Lymphoma
The use of L5178Y mouse lymphoma cells to assess the mutagenic, clastogenic and aneugenic properties of chemicals.
Lymphoma
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.
Lymphoma, Non-Hodgkin
Correlated mutagenesis of bcl2 and hprt loci in blood lymphocytes.
Lymphoma, Non-Hodgkin
Hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity in hybrids derived from HGPRT+ and HGPRT- mouse cells.
Lymphoma, Non-Hodgkin
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)
Lymphoproliferative Disorders
Uric acid nephrolithiasis.
Lymphoproliferative Disorders
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.
Malaria
Crystal structures of Giardia lamblia guanine phosphoribosyltransferase at 1.75 A(,).
Malaria
Localisation of hypoxanthine phosphoribosyl transferase in the malaria parasite Plasmodium falciparum.
Malaria
PfHPRT: A New Biomarker Candidate of Acute Plasmodium falciparum Infection.
Malaria
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.
Malnutrition
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.
Melanoma
Extinction of muscle-specific properties in somatic cell heterokaryons.
Melanoma
How useful are housekeeping genes? Variable expression in melanoma metastases.
Melanoma
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.
Melanoma
In vivo mutant frequency of thioguanine-resistant T-cells in the peripheral blood and lymph nodes of melanoma patients.
Melanoma
Increase in hypoxanthine-guanine phosphoribosyl transferase gene mutations by exposure to high-density 50-Hz magnetic fields.
Melanoma
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.
Melanoma
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).
Mental Retardation, X-Linked
Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
Metabolic Diseases
Transcriptomic approach to Lesch-Nyhan disease.
Metabolic Diseases
[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.
Multiple Myeloma
Uric acid nephrolithiasis.
Multiple Sclerosis
Homologies between T cell receptor junctional sequences unique to multiple sclerosis and T cells mediating experimental allergic encephalomyelitis.
Multiple Sclerosis
HPRT mutant T-cell lines from multiple sclerosis patients recognize myelin proteolipid protein peptides.
Multiple Sclerosis
Longitudinal study of frequency of HPRT mutant T cells in patients with multiple sclerosis.
Multiple Sclerosis
Myelin basic protein peptide specificity and T-cell receptor gene usage of HPRT mutant T-cell clones in patients with multiple sclerosis.
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.
Myelodysplastic Syndromes
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.
Myelodysplastic Syndromes
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.
Myeloproliferative Disorders
Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement.
Myeloproliferative Disorders
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.
Neoplasm Metastasis
How useful are housekeeping genes? Variable expression in melanoma metastases.
Neoplasm Metastasis
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Neoplasm Metastasis
Metastasis prognostic factors and cancer stem cell-related transcription factors associated with metastasis induction in canine metastatic mammary gland tumors.
Neoplasm Metastasis
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.
Neoplasms
A prospective study of hprt mutant and mutation frequencies in treated cancer patients.
Neoplasms
A review of HPRT and its emerging role in cancer.
Neoplasms
Acidic pH induces topoisomerase II-mediated DNA damage.
Neoplasms
Activation of a nonexpressed hypoxanthine phosphoribosyltransferase allele in mutant H23 HeLa cells by agents that inhibit DNA methylation.
Neoplasms
Acute renal failure from xanthine nephropathy during management of acute leukemia.
Neoplasms
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.
Neoplasms
Analysis of oxidative DNA damage and HPRT mutant frequencies in cancer patients before and after radiotherapy.
Neoplasms
Analysis of point mutations in the hprt gene of cancer patients treated with radioimmunoglobulin therapy.
Neoplasms
Antimutagenic effects of amifostine: clinical implications.
Neoplasms
Assessing human risk to heterocyclic amines.
Neoplasms
Association of invasion-promoting tenascin-C additional domains with breast cancers in young women.
Neoplasms
Biomarkers in long survivors of pediatric acute lymphoblastic leukemia patients: late effects of cancer chemotherapy.
Neoplasms
Biomonitoring human exposure to environmental carcinogenic chemicals.
Neoplasms
Bromate induces loss of heterozygosity in the thymidine kinase gene of L5178Y/Tk(+/-)-3.7.2C mouse lymphoma cells.
Neoplasms
Cancer chemotherapy and somatic cell mutation.
Neoplasms
Cellular resistance and hypermutability in mismatch repair-deficient human cancer cell lines following treatment with methyl methanesulfonate.
Neoplasms
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.
Neoplasms
Characterizing and optimizing human anticancer drug targets based on topological properties in the context of biological pathways.
Neoplasms
Choice of endogenous control for gene expression in nonsmall cell lung cancer.
Neoplasms
Clonal composition of benign and malignant human thyroid tumors.
Neoplasms
Comparative analysis of HPRT mutant frequency in children with cancer.
Neoplasms
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.
Neoplasms
Comparisons of the frequencies and molecular spectra of HPRT mutants when human cancer cells were X-irradiated during G1 or S phase.
Neoplasms
Conjunctival expression of matrix metalloproteinase and pro-inflammatory cytokine genes following trichiasis surgery.
Neoplasms
Consensus reference gene(s) for gene expression studies in human cancers: end of the tunnel visible?
Neoplasms
Culture and propagation of Hprt mutant T-lymphocytes isolated from mouse spleen.
Neoplasms
Cysteine conjugate beta-lyase activity in human renal carcinomas.
Neoplasms
Deletion mutations in the hprt gene of T-lymphocytes as a biomarker for genomic rearrangements important in human cancers.
Neoplasms
Dependence of mutation induction on fast-neutron energy in a human epithelial teratocarcinoma cell line (P3).
Neoplasms
Depletion of intracellular glutathione reduces mutations by nitric oxide-donating drugs.
Neoplasms
Detection of cyclophosphamide-induced mutations at the Hprt but not the lacI locus in splenic lymphocytes of exposed mice.
Neoplasms
Development and Analytical Validation of a Reverse Transcription Droplet Digital PCR (RT-ddPCR) Assay for PD-L1 Transcripts in Circulating Tumor Cells.
Neoplasms
Development of a microarray for studying porcine cytokine production in blood mononuclear cells and intestinal biopsies.
Neoplasms
Dietary vitamin E affects neutrophil distribution and genetic instability in murine Mutatect tumors.
Neoplasms
Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype.
Neoplasms
Differential regulation of the von Willebrand factor and Flt-1 promoters in the endothelium of hypoxanthine phosphoribosyltransferase-targeted mice.
Neoplasms
Distinguishing potential sources of genotoxic exposure via HPRT mutations.
Neoplasms
Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability.
Neoplasms
DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice.
Neoplasms
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.
Neoplasms
DNA adducts: biological markers of exposure and potential applications to risk assessment.
Neoplasms
DNA methylation changes in human testicular cancer.
Neoplasms
DNA strand biases and the mutational resilience of genes.
Neoplasms
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.
Neoplasms
Dose-dependent effects of dietary alpha- and gamma-tocopherols on genetic instability in mouse Mutatect tumors.
Neoplasms
Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.
Neoplasms
Effect of dietary vitamin E on spontaneous or nitric oxide donor-induced mutations in a mouse tumor model.
Neoplasms
Enumeration of 6-thioguanine-resistant tumour cells using flow cytometry and comparison with a microtitration cloning assay.
Neoplasms
Escape from het-6 incompatibility in Neurospora crassa partial diploids involves preferential deletion within the ectopic segment.
Neoplasms
Evaluation of mutant frequencies at the hprt and the T-cell receptor loci in pediatric cancer patients before treatment.
Neoplasms
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Neoplasms
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Neoplasms
Evidence of genetic instability in tumors and normal nearby tissues.
Neoplasms
Expression of interleukin-8 promotes neutrophil infiltration and genetic instability in mutatect tumors.
Neoplasms
Falling from grace: HPRT is not suitable as an endogenous control for cancer-related studies.
Neoplasms
Flow cytometric enumeration of drug-resistant tumor cells.
Neoplasms
Frequencies of HPRT mutants and micronuclei in lymphocytes of cancer patients under chemotherapy: a prospective study.
Neoplasms
Frequencies of HPRT- lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors.
Neoplasms
Genetic effects of 1,3-butadiene and associated risk for heritable damage.
Neoplasms
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.
Neoplasms
Genotoxicity of 1,3-butadiene and its epoxy intermediates.
Neoplasms
Genotoxicity of malachite green and leucomalachite green in female Big Blue B6C3F1 mice.
Neoplasms
Growth of V79 cells as xenograft tumors promotes multicellular resistance but does not increase spontaneous or radiation-induced mutant frequency.
Neoplasms
HMGA2 expression distinguishes between different types of postpubertal testicular germ cell tumour.
Neoplasms
HPRT gene alterations in umbilical cord blood T-lymphocytes in newborns of mothers exposed to tobacco smoke during pregnancy.
Neoplasms
hprt mutant frequencies, nonpulmonary malignancies, and domestic radon exposure: "postmortem" analysis of an interesting hypothesis.
Neoplasms
Hprt mutants in a transplantable murine tumour arise more frequently in vivo than in vitro.
Neoplasms
HPRT mutations in vivo in human CD 34+ hematopoietic stem cells.
Neoplasms
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Neoplasms
Human T-T cell hybridomas: development and applications.
Neoplasms
Hypoxanthine Guanine Phosphoribosyltransferase expression is negatively correlated with immune activity through its regulation of purine synthesis.
Neoplasms
Hypoxanthine Phosphoribosyl Transferase 1 Is Upregulated, Predicts Clinical Outcome and Controls Gene Expression in Breast Cancer.
Neoplasms
Hypoxanthine-guanine phosphoribosyl-transferase in childhood leukemia: relation with immunophenotype, in vitro drug resistance and clinical prognosis.
Neoplasms
Hypoxanthine:guanine phosphoribosyltransferase activity in primary human osteosarcomas. A rationale for therapy with methotrexate-thymidine rescue?
Neoplasms
Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer.
Neoplasms
Identification of optimal reference genes for gene expression normalization in a wide cohort of endometrioid endometrial carcinoma tissues.
Neoplasms
Identification of Selective Lead Compounds for Treatment of High-Ploidy Breast Cancer.
Neoplasms
Identification of valid reference genes for gene expression studies of human stomach cancer by reverse transcription-qPCR.
Neoplasms
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.
Neoplasms
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.
Neoplasms
In vivo ionizing irradiations produce deletions in the hprt gene of human T-lymphocytes.
Neoplasms
In vivo mutant frequency of thioguanine-resistant T-cells in the peripheral blood and lymph nodes of melanoma patients.
Neoplasms
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
Neoplasms
IPCS guidelines for the monitoring of genotoxic effects of carcinogens in humans. International Programme on Chemical Safety.
Neoplasms
Is breast cancer cluster influenced by environmental and occupational factors among hospital nurses in Hungary?
Neoplasms
Keratinocyte autophagy enables the activation of keratinocytes and fibroblasts and facilitates wound healing.
Neoplasms
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.
Neoplasms
Malignant mixed tumor (carcinosarcoma) of the pancreas: a case report supporting organ-induced differentiation of malignancy.
Neoplasms
Measurement of chromosomal aberrations, sister chromatid exchange, hprt mutations, and DNA adducts in peripheral lymphocytes of human populations at increased risk for cancer.
Neoplasms
Measurement of mutation frequency at the HPRT locus in peripheral lymphocytes. Is this a good method to evaluate a cancer risk in pediatric patients?
Neoplasms
Measuring the genetic damage in cancer patients during radiotherapy with three genetic end-points.
Neoplasms
Metastasis prognostic factors and cancer stem cell-related transcription factors associated with metastasis induction in canine metastatic mammary gland tumors.
Neoplasms
Molecular bases of hprt mutations in malathion-treated human T-lymphocytes.
Neoplasms
Molecular genetic evidence of a unifocal origin for human serous ovarian carcinomas.
Neoplasms
Molecular interaction between human tumor marker protein p150, the largest subunit of eIF3, and intermediate filament protein K7.
Neoplasms
Monoclonal origins of malignant mixed tumors (carcinosarcomas). Evidence for a divergent histogenesis.
Neoplasms
Mouse mammary tumor virus p75 and p110 CUX1 transgenic mice develop mammary tumors of various histologic types.
Neoplasms
Murine lymphoma L5178Y cells resistant to purine antagonists: differences in cross-resistance to thioguanine-platinum(II) and selenoguanine-platinum(II).
Neoplasms
Mutagenesis after cancer therapy.
Neoplasms
Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice.
Neoplasms
Mutagenesis of L5178Y/TK(+/-)-3.7.2C mouse lymphoma cells by the clastogen ellipticine.
Neoplasms
Mutagenicity and clastogenicity of teniposide (VM-26) in L5178Y/TK +/- -3.7.2C mouse lymphoma cells.
Neoplasms
Mutagenicity and cytotoxicity of reactive oxygen and nitrogen species in the MN-11 murine tumor cell line.
Neoplasms
Mutant frequency at the hprt locus in human lymphocytes in a case-control study of lung cancer.
Neoplasms
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects.
Neoplasms
Mutational spectra at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients.
Neoplasms
Mutator phenotypes in human colorectal carcinoma cell lines.
Neoplasms
New approaches to understanding p53 gene tumor mutation spectra.
Neoplasms
NOD2 (CARD15) mutations in Crohn's disease are associated with diminished mucosal alpha-defensin expression.
Neoplasms
Non-small-cell lung cancer cell lines A549 and NCI-H460 express hypoxanthine guanine phosphoribosyltransferase on the plasma membrane.
Neoplasms
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.
Neoplasms
Overexpression and surface localization of HPRT in prostate cancer provides a potential target for cancer specific antibody mediated cellular cytotoxicity.
Neoplasms
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Neoplasms
Potential new biomarkers for endometrial cancer.
Neoplasms
Prospective study of mutant frequencies at the hprt and T-cell receptor gene loci in pediatric cancer patients during chemotherapy.
Neoplasms
Proteomic profiling reveals that resveratrol inhibits HSP27 expression and sensitizes breast cancer cells to doxorubicin therapy.
Neoplasms
Purine metabolism of human glioblastoma in vivo.
Neoplasms
Purine salvage enzyme activities in normal and neoplastic human tissues.
Neoplasms
Purine-Metabolising Enzymes and Apoptosis in Cancer.
Neoplasms
Quantification of hprt gene deletions mediated by illegitimate V(D)J recombination in peripheral blood cells of humans.
Neoplasms
Quantification of tumor suppressor mRNA expression by poly-competitive RT-PCR using a TS-IS that contained multiple internal competitors.
Neoplasms
Quantitative selectivity of contact-mediated intercellular communication in a metastatic mouse mammary tumor line.
Neoplasms
Recombinagenic activity of the phorbol ester 12-O-tetradecanoylphorbol-13-acetate in human lymphoblastoid cells.
Neoplasms
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Neoplasms
Relationship between the levels of purine salvage pathway enzymes and clinical/biological aggressiveness of human colon carcinoma.
Neoplasms
Resistance to 6-thioguanine in mismatch repair-deficient human cancer cell lines correlates with an increase in induced mutations at the HPRT locus.
Neoplasms
Role of differentiation induction in action of purine antimetabolites.
Neoplasms
Selection of reference genes for real-time PCR in human hepatocellular carcinoma tissues.
Neoplasms
Sequence Distribution of Acetaldehyde-Derived N(2)-Ethyl-dG Adducts along Duplex DNA.
Neoplasms
Somatic mutant frequency at the HPRT locus in children associated with a pediatric cancer cluster linked to exposure to two superfund sites.
Neoplasms
Somatic mutation of hPMS2 as a possible cause of sporadic human colon cancer with microsatellite instability.
Neoplasms
Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A.
Neoplasms
Specificity of mutations induced by methyl methanesulfonate in mismatch repair-deficient human cancer cell lines.
Neoplasms
Spectra of X-ray-induced and spontaneous intragenic HPRT mutations in closely related human cells differentially expressing the p53 tumor suppressor gene.
Neoplasms
Spectrum of point mutations in the coding region of the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene in human T-lymphocytes in vivo.
Neoplasms
Stability of housekeeping genes in alveolar macrophages from COPD patients.
Neoplasms
Strand-specific removal of cyclobutane pyrimidine dimers from the p53 gene in the epidermis of UVB-irradiated hairless mice.
Neoplasms
Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas.
Neoplasms
The DNA tumor virus SV 40 induces gene mutations in human cells. Reversion of HPRT deficiency.
Neoplasms
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.
Neoplasms
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice.
Neoplasms
The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency.
Neoplasms
Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies.
Neoplasms
V(D)J recombinase-mediated HPRT mutations in peripheral blood lymphocytes of normal children.
Neoplasms
Validation of common reference genes stability in exosomal mRNA-isolated from liver and breast cancer cell lines.
Neoplasms
Validation of Reference Genes for Normalization of Relative qRT-PCR Studies in Papillary Thyroid Carcinoma.
Neoplasms
X-chromosome inactivation patterns using HPRT and PGK polymorphisms in haematologically normal and post-chemotherapy females.
Neoplasms
[Acquisition of resistance associated with impairment of metabolic activation of anticancer drugs]
Neoplasms
[Definition and classification of hyperuricemia]
Neoplasms
[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.
Nephrolithiasis
Acute renal failure from xanthine nephropathy during management of acute leukemia.
Nephrolithiasis
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Nephrolithiasis
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Nephrolithiasis
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Nephrolithiasis
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
Nephrolithiasis
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Nephrolithiasis
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation.
Nephrolithiasis
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Nephrolithiasis
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Nephrolithiasis
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.
Nervous System Diseases
Expression of human HPRT in the central nervous system of transgenic mice.
Nervous System Diseases
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Nervous System Diseases
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Nervous System Diseases
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Nervous System Diseases
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
Nervous System Diseases
Partial characterization of the proteome of the mouse striatum.
Nervous System Diseases
Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain.
Nervous System Diseases
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse.
Nervous System Diseases
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
Nervous System Diseases
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
Nervous System Diseases
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Nervous System Diseases
[A family of hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders (author's transl)]
Nervous System Diseases
[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.
Neurobehavioral Manifestations
The Use of Perinatal 6-Hydroxydopamine to Produce a Rodent Model of Lesch-Nyhan Disease.
Neurobehavioral Manifestations
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Neuroblastoma
A human neuronal tissue culture model for Lesch-Nyhan disease.
Neuroblastoma
Cell fusion-induced mouse neuroblastomas HPRT revertants with variant enzyme and elevated HPRT protein levels.
Neuroblastoma
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.
Neuroblastoma
Comparative analysis of HPRT mutant frequency in children with cancer.
Neuroblastoma
Complex changes in ecto-nucleoside 5'-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency.
Neuroblastoma
Decreased 6-mercaptopurine retention by two resistant variants of mouse neuroblastoma with normal hypoxanthine-guanine-phospho-ribosyltransferase activities.
Neuroblastoma
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
Neuroblastoma
IMP-dehydrogenase (IMPDH), hypoxanthine-guanine phosphoribosyltransferase (HGPRT), and phosphodiesterases (PDEs) expression during mycophenolic acid (MPA)-induced differentiation in human neuroblastoma cell lines.
Neuroblastoma
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein.
Neuroblastoma
Monoamine oxidase activity decreased in cells lacking hypoxanthine phosphoribosyltransferase activity.
Neuroblastoma
Neuronal traits of clonal cell lines derived by fusion of dorsal root ganglia neurons with neuroblastoma cells.
Neuroblastoma
Prospective study of mutant frequencies at the hprt and T-cell receptor gene loci in pediatric cancer patients during chemotherapy.
Neuroblastoma
Purification and characterization of guanine phosphoribosyltransferase from Giardia lamblia.
Neuroblastoma
Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Schistosoma mansoni. A potential target for chemotherapy.
Neuroblastoma
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.
Neuroblastoma
Reversion in expression of hypoxanthine-guanine phosphoribosyltransferase in 6-thioguanine resistant neuroblastoma: evidence for reduced enzyme levels associated with unaltered catalytic activity.
Neuroblastoma
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.
Neurologic Manifestations
Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
Neurologic Manifestations
Aicar effect in early neuronal development.
Neurologic Manifestations
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Neurologic Manifestations
Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.
Neurologic Manifestations
Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
Neurologic Manifestations
Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
Neurologic Manifestations
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Neurologic Manifestations
HPRT(Sardinia): a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Neurologic Manifestations
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Neurologic Manifestations
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Neurologic Manifestations
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Neurologic Manifestations
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Neurologic Manifestations
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Neurologic Manifestations
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Neurologic Manifestations
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Neurologic Manifestations
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Neurologic Manifestations
Molecular characterization and structure analysis of hprt in a chinese patient with lesch-nyhan disease.
Neurologic Manifestations
Normal HPRT coding region in complete and partial HPRT deficiency.
Neurologic Manifestations
Partial HPRT deficiency phenotype and incomplete splicing mutation.
Neurologic Manifestations
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Neurologic Manifestations
Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.
Neurologic Manifestations
The diagnosis of HPRT deficiency in the 21st century.
Neurologic Manifestations
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Neurologic Manifestations
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?]
Neurologic Manifestations
[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.
Neuroma
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.
ornithine carbamoyltransferase deficiency
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.
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.
Osteosarcoma
Hypoxanthine:guanine phosphoribosyltransferase activity in primary human osteosarcomas. A rationale for therapy with methotrexate-thymidine rescue?
Osteosarcoma
Hypoxanthine:guanine phosphoribosyltransferase activity in xenografts of human osteosarcoma.
Osteosarcoma
IMPDH2 and HPRT expression and a prognostic significance in preoperative and postoperative patients with osteosarcoma.
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.
Ovarian Neoplasms
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.
Parasitic Diseases
Crystal structure of Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyl transferase L160I mutant--insights into inhibitor design.
Parasitic Diseases
Hypoxanthine-guanine phosphoribosyltransferase as a therapeutic target in protozoal infections.
Parasitic Diseases
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.
Pheochromocytoma
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.
Polycythemia
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.
Polyneuropathies
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.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Analysis of genetic alterations and clonal proliferation in children treated for acute lymphocytic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Analysis of microsatellite instability in children treated for acute lymphocytic leukemia with elevated HPRT mutant frequencies.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Biochemical parameters of mercaptopurine activity in patients with acute lymphoblastic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Biomarkers in long survivors of pediatric acute lymphoblastic leukemia patients: late effects of cancer chemotherapy.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Clinical relevance of in vitro drug resistance testing in childhood acute lymphoblastic leukemia: the state of the art.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Comparative analysis of HPRT mutant frequency in children with cancer.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt's B cell lymphoma.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Genotoxicity of therapeutic intervention in children with acute lymphocytic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Hypoxanthine-guanine phosphoribosyl-transferase in childhood leukemia: relation with immunophenotype, in vitro drug resistance and clinical prognosis.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: comparison with HPRT locus mutation.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
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.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
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?
Prostatic Neoplasms
Multianalyte quantitative competitive PCR on optically encoded microspheres for an eight-gene panel related to prostate cancer.
Prostatic Neoplasms
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.
purine-nucleoside phosphorylase deficiency
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.
purine-nucleoside phosphorylase deficiency
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.
purine-nucleoside phosphorylase deficiency
Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism.
purine-nucleoside phosphorylase deficiency
Guanine nucleotide metabolism in red blood cells: the metabolic basis for GTP depletion in HGPRT and PNP deficiency.
purine-nucleoside phosphorylase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
purine-nucleoside phosphorylase deficiency
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.
Renal Insufficiency
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Renal Insufficiency
Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
Renal Insufficiency
Gout, uric acid and purine metabolism in paediatric nephrology.
Renal Insufficiency
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Renal Insufficiency
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
Renal Insufficiency
Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.
Renal Insufficiency
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Renal Insufficiency
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
Renal Insufficiency
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
Renal Insufficiency
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.
Sarcoma
Expression of X-linked genes in deceased neonates and surviving cloned female piglets.
Sarcoma
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.
Seizures
[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.
Squamous Cell Carcinoma of Head and Neck
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Squamous Cell Carcinoma of Head and Neck
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Squamous Cell Carcinoma of Head and Neck
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.
Starvation
Dynamic architecture of the purinosome involved in human de novo purine biosynthesis.
Starvation
Purine synthesis during amino acid starvation of lymphoblasts with HPRT deficiency or PP-ribose-P synthetase overactivity decreases less than in normal cells.
Starvation
Role of the hprT-ftsH locus in Staphylococcus aureus.
Starvation
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.
Teratocarcinoma
DNA methylation changes in human testicular cancer.
Teratocarcinoma
Tissue preference and differentiation of malignant rat x mouse hybrid cells in chimaeric mouse fetuses.
Teratocarcinoma
Transformation of teratocarcinoma stem cells and fibroblasts with various vectors containing the Eco.gpt gene as a selection marker.
Teratocarcinoma
[Effect of inhibitors of topoisomerases and poly(ADP-ribosylation) on homologous and non-homologous integration of exogenous DNA in genes of mammalian somatic cells]
Teratocarcinoma
[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.
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.
Trypanosomiasis, African
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.
Tuberculosis
Hypoxanthine-guanine phosphoribosyltransferase from Mycobacteriumtuberculosis H37Rv: Cloning, expression, and biochemical characterization.
Tuberculosis
Hypoxanthine-Guanine Phosphoribosyltransferase Is Dispensable for Mycobacterium smegmatis Viability.
Tuberculosis
Inhibition of the Escherichia coli 6-Oxopurine Phosphoribosyltransferases by Nucleoside Phosphonates: Potential for New Antibacterial Agents.
Tuberculosis
Oligomeric state of hypoxanthine-guanine phosphoribosyltransferase from Mycobacterium tuberculosis.
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.
Tumor Lysis Syndrome
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.
Urinary Bladder Neoplasms
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.
Urinary Calculi
Purine synthesis de novo and salvage in hypoxanthine phosphoribosyltransferase-deficient mice.
Urinary Calculi
[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.
Vaccinia
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.
Werner Syndrome
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.
Werner Syndrome
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.
Xeroderma Pigmentosum
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.
Xeroderma Pigmentosum
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Xeroderma Pigmentosum
Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier.
Xeroderma Pigmentosum
Ethyl methane sulfonate- and bleomycin-generated deletion mutations at HPRT locus in xeroderma pigmentosum complementation group D fibroblasts.
Xeroderma Pigmentosum
Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors.
Xeroderma Pigmentosum
Molecular analysis of ultraviolet-induced mutations in a xeroderma pigmentosum cell line.
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2.4.2.8 hypoxanthine phosphoribosyltransferase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
