Property Summary

NCBI Gene PubMed Count 144
PubMed Score 2326.79
PubTator Score 1925.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Gout, HPRT-Related 2
Disease Target Count Z-score Confidence
Gout 93 5.855 2.9
Disease Target Count
Gout HPRT-related 1

Expression

  Differential Expression (27)

Disease log2 FC p
Waldenstrons macroglobulinemia 2.252 7.8e-03
Multiple myeloma 2.036 4.3e-04
astrocytic glioma -3.000 2.3e-03
ependymoma -2.700 1.0e-02
oligodendroglioma -2.300 1.9e-02
psoriasis 1.100 1.6e-04
glioblastoma -1.700 1.4e-03
atypical teratoid / rhabdoid tumor -2.300 7.8e-07
medulloblastoma -1.500 1.0e-04
medulloblastoma, large-cell -1.300 3.7e-04
primitive neuroectodermal tumor -1.500 2.0e-03
juvenile dermatomyositis 1.117 1.2e-08
Amyotrophic Lateral Sclerosis 1.089 4.7e-05
acute quadriplegic myopathy 1.365 7.2e-05
non-small cell lung cancer 1.271 5.0e-19
lung cancer 2.400 1.1e-04
breast carcinoma 1.200 1.3e-03
Breast cancer 2.500 4.3e-02
adult high grade glioma -1.800 6.6e-05
pilocytic astrocytoma -1.900 2.1e-08
lung adenocarcinoma 1.156 1.3e-05
nasopharyngeal carcinoma 1.300 5.3e-05
Pick disease -1.600 1.6e-02
ductal carcinoma in situ 1.100 1.3e-03
invasive ductal carcinoma 1.300 2.1e-03
ovarian cancer 2.200 1.1e-04
dermatomyositis 1.100 1.3e-02

Protein-protein Interaction (2)

Gene RIF (78)

PMID Text
26204901 HPRT gene mutation assay demonstrated that surface chemical composition plays a significant role in silver nanoparticle toxicity.
26050630 Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction.
25965333 Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene
25914368 HPRT mutations are not increased by systemic depleted uranium exposure.
25612837 A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease.
25136576 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid.
24940672 HPRT1 mutations in new Japanese families and PRPP concentration
24075303 Our studies suggest that the p.Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation.
23907213 In the study presented here, for the first time T-705/favipiravir absolutely depends on the cellular HGPRT enzyme to exert its anti-influenza virus activity in mammalian cells.
23728617 Treatment of human primary astrocytes with HIV-1 Vpr downregulates expression of eleven genes, BNIP3, CYGB, DUOX2, DUSP1, FOXM1, GAPDH, HPRT1, MT3, MTL5, PTGS2, and SCARA3
23473102 study reports three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three Lesch-Nyhan syndrome affected male patients
23348497 Such protein-protein interactions with HPRT1 are predicted to be impaired for the long or short forms of ALDH16A1*2.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22331909 The housekeeping gene HPRT regulates purinergic signaling in pluripotent human stem cells. This regulation occurs at least partly through aberrant P2Y1-mediated expression and signaling.
22183764 Molecular genetic testing revealed a new frameshift mutation in the HPRT1 gene causing Lesch-Nyhan syndrome in an Indian family.
22132986 Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1.
22132984 These results confirm the extraordinary variety and complexity of mutations in HPRT deficiency.
22132982 Mutations in Asian families with patients manifesting different clinical phenotypes, including rare cases of female subjects, by analyzing all nine exons of the HPRT gene, were identified.
22042773 Identification of increased expression of the microRNA miR181a in HPRT-deficient human dopaminergic SH-SY5Y neuroblastoma cells.
21780909 The study reports five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with Lesch-Nyhan Syndrome.
21486037 Human hypoxanthine guanine phosphoribosyltransferase (HGPRT) catalyzes the phosphoribosylation of guanine and hypoxanthine, while Plasmodium falciparum HGPRT acts on xanthine as well.
21305049 dysregulated Wnt signaling and presenilin-1 expression together with impaired expression of dopaminergic transcription factors reveal broad pleitropic neuro-regulatory defects played by HPRT expression
20981450 the clinical features of ten patients from eight unrelated families with the c.143G>A mutation in HPRT1 were compared.
20544511 The promoter region methylation status of these five HPRT deficient patients was similar to that of normal subjects.
20544509 In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1.
20536392 The loss of the guanine effect in a cell line bearing a mutated inactive HGPRT, and the decreased potency of GUA in U87 cells silenced for HGPRT transcripts, demonstrates the role of the intracellular metabolism of GUA for growth-inhibitory effects.
20045992 Observational study of genotype prevalence. (HuGE Navigator)
20038437 Use of HPRT1 gene for validation studies of internal controls for expression studies in aging is reported.
19995283 Sequence analysis of DNA and RNA showed correction of the HPRT1 mutation. Random integration was not indicated after transfection of the mutant cells with an SDF comprised of green fluorescent protein (GFP) sequences are not found in human genomic DNA
19706768 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19672249 hypoxanthine-guanine phosphoribosyltransferase
19342420 HPRT deficiency influences the development of dopamine neurons and their neurochemical phenotype.
19016344 Report lack of any common mutation causing HPRT deficiency in Poland.
18835879 Observational study of gene-disease association. (HuGE Navigator)
18779430 a HPRT mutation (IVS6 + 2) led to deletion of exon 6 in 5 members of a family; affected members fell into 3 differing phenotypes; 1 displayed classic Lesch-Nyhan phenotype, 2 had a much milder disease, and 2 had an intermediate phenotype
18600559 Kinetic analysis of the active mutants (E196A, E196D, E196Q, and E196R) suggests that interaction between K68 and E196 side chains contributes to stabilization of cis-configuration during the catalytic cycle
18600506 two novel mutations were identified in this study: a single nucleotide substitution (430C > T) resulting in a nonsense mutation Q144X, and a deletion of HPRT1 exon 1 expressing no mRNA of HPRT
18494542 intrachromosomal genomic rearrangements on the Mbp scale represent the prevailing type of radiation-induced HPRT mutations
18409516 mutations within the gene give rise to Lesch-Nyhan syndrome
18407966 Acrylamide has a weak mutagenic effect at HPRT gene locus in human promyelocytic leukaemia HL-60 and NB4 cell lines.
18316217 Lesch-Nyhan syndrome was due to a defect in HPRT gene expression regulation.
18288319 Observational study of gene-disease association. (HuGE Navigator)
17934765 We report on a rare case of hypoxanthine guanine phosphoribosyl transferase (HGPRT) deficiency that presented in the newborn period with acute renal failure (ARF).
17700363 tested the hypothesis that inheritance of the L84F and I143V coding single nucleotide polymorphism in the MGMT gene is associated with increases in HPRT mutant frequency in lymphocytes of smokers
17697207 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17628775 Expression of candidate genes HPRT1 and ALAS1 in malignant and non-malignant prostate tissue samples after microdissection.
17454734 mutational analysis of HPRT in patients with Lesch-Nyhan Disease, HPRT-related hyperuricemia with neurologic dysfunction, and hyperuricemia
17027311 a number of HPRT mutations in Asian patients manifesting different clinical phenotypes.
16951156 Significant increase in the proportion of CpG transitions in this enzyme following treatment drug therapy in acute lymhpocytic leukemia in children.
16458330 Mutations do not confer a growth advantage to somatic heterozygous clusters or maintenance turnover units.
16355393 analysis of human HPRT1 pseudogenes
16240158 Partial HGPRT deficiency case presented as acute renal failure.
16216473 A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease.
15990111 snapshots of the structure of this enzyme in complex with substrates along the reaction pathway have been captured
15987524 both active maternal smoking and secondary maternal exposure produce quantitatively and qualitatively indistinguishable increases in fetal HPRT mutation
15862284 HPRT deficiency which appears to be due to a defect in the regulation of the gene in an individual with gout.
15862283 Mother and both twins are heterozygous carriers of a HPRT splicing mutation, but an affected twin demonstrates a phenotype is classical for Lesch-Nyhan disease.
15779006 reports the identification, by competitive PCR of nascent DNA, of a replication origin in intron 2 of the human X-linked HPRT gene, that is functional only on the inactive X
15601998 Splice variations of hypoxanthine phosphoribosyl transferase may be caused by aberrant splicing.
15571224 a mutation with unknown sequence was identified in HPRT1 genomic DNA of a patient with Lesch-Nyhan syndrome
15571223 analysis of exons of HPRT from the genomic DNA of Asian HPRT deficient families
15571222 a mutation of ATT to ACT (substitution of isoleucine to threonine) was found in codon 137 of HPRT in a patient with partial deficiency of the enzyme
15571220 summary of mutations in HPRT1 causing HPRT deficiency
15491638 Observational study of gene-disease association. (HuGE Navigator)
15277709 Mutation in the HPRT1 allele at the DNA and RNA levels in Lesch-Nyhan disease blastocyst.
15204312 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15178494 mutation of F36 residue in the core of the protein affects the stability of the enzyme
15146465 how mutable and nonmutated amino acid residues in the HPRT monomer correlate with sequence conservation and predicted phenotypic effects
14767555 elevated HPRT mutation rates in a colon cancer cell line are caused by mutations in the MSH6 gene, and not in the POLD1 gene
12874812 In children with cancer there is no significant increase in background HPRT mutation frequency.
12616531 HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome
12376523 Observational study of gene-disease association. (HuGE Navigator)
12175903 A comparative spectral analysis of somatic mutations at the HPRT reporter gene locus in healthy children revealed an age-specific decrease in large alterations and a corresponding increase in small alterations with increasing age.
11891689 This report highlights the unusual occurrence of recurrent acute renal failure in a child with partial HPRT enzyme deficiency.
11714443 High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
11668636 recurrent large Alu-mediated deletion associated with Lesch-Nyhan syndrome
11434773 The purine salvage pathway of HGPRT, achieved by catalytically sequential steps leading to and from a favorable transition state, is the major route for purine nucleotide uptake in Plasmodium falciparum, the most virulent infective agent of malaria.
11219770 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKG      1 - 70
GYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTG     71 - 140
KTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISE    141 - 210
TGKAKYKA                                                                  211 - 218
//

Text Mined References (151)

PMID Year Title
26204901 2015 Impact of nanosilver on various DNA lesions and HPRT gene mutations - effects of charge and surface coating.
26072972 2015 TL1A as a Potential Local Inducer of IL17A Expression in Colon Mucosa of Inflammatory Bowel Disease Patients.
26050630 2015 Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction.
25965333 2015 Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25914368 2015 Mutagenicity monitoring following battlefield exposures: Longitudinal study of HPRT mutations in Gulf War I veterans exposed to depleted uranium.
25833399 2015 Placental melatonin system is present throughout pregnancy and regulates villous trophoblast differentiation.
25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
25416956 2014 A proteome-scale map of the human interactome network.
25136576 2014 Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24940672 2014 Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24075303 2013 Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
23907213 2013 Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir).
23473102 2013 Identification of novel mutations in the human HPRT gene.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23348497 2013 ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.
22880027 2012 MicroRNA-30b-mediated regulation of catalase expression in human ARPE-19 cells.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
22331909 2012 Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
22183764 2012 Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
22132986 2011 Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
22132984 2011 HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
22132982 2011 Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
22042773 2012 MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
21780909 2011 Novel mutations in the human HPRT gene.
21486037 2011 Hypoxanthine guanine phosphoribosyltransferase distorts the purine ring of nucleotide substrates and perturbs the pKa of bound xanthosine monophosphate.
21305049 2011 HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
21269460 2011 Initial characterization of the human central proteome.
20981450 2011 Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
20544511 2010 Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
20544510 2010 Partial HPRT deficiency phenotype and incomplete splicing mutation.
20544509 2010 Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
20536392 2010 Antiproliferative effects induced by guanine-based purines require hypoxanthine-guanine phosphoribosyltransferase activity.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
20045992 2009 Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals.
20038437 2010 Validation of suitable internal control genes for expression studies in aging.
19995283 2010 Sequence-specific correction of genomic hypoxanthine-guanine phosphoribosyl transferase mutations in lymphoblasts by small fragment homologous replacement.
19706768 2009 Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease.
19672249 2010 Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis.
19527031 2009 Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics.
19342420 2009 Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
19060904 2009 An empirical framework for binary interactome mapping.
19016344 2008 Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
18835879 2008 Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis.
18779430 2008 Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
18600559 2008 The role for glutamic acid at position 196 in human hypoxanthine phosphoribosyltransferase (HPRT) as investigated using site-directed mutagenesis.
18600506 2008 Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
18494542 2008 Radiation-induced HPRT mutations resulting from misrejoined DNA double-strand breaks.
18409516 2008 [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
18407966 2008 Acrylamide-induced molecular mutation spectra at HPRT locus in human promyelocytic leukaemia HL-60 and NB4 cell lines.
18316217 2008 Normal HPRT coding region in complete and partial HPRT deficiency.
18288319 2008 HPRT mutations in lymphocytes from 1,3-butadiene-exposed workers in China.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17934765 2008 Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
17700363 2007 The L84F polymorphism in the O6-Methylguanine-DNA-Methyltransferase (MGMT) gene is associated with increased hypoxanthine phosphoribosyltransferase (HPRT) mutant frequency in lymphocytes of tobacco smokers.
17697207 2007 Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy.
17628775 2007 [Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?].
17454734 2007 Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17027311 2007 Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
16951156 2006 Analysis of genetic alterations and clonal proliferation in children treated for acute lymphocytic leukemia.
16928426 2007 Gene duplication and inactivation in the HPRT gene family.
16458330 2006 Distributions of five common point mutants in the human tracheal-bronchial epithelium.
16355393 2006 Pseudogenes of the human HPRT1 gene.
16240158 2005 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
16216473 2006 HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16138897 2005 Self-mutilation behaviour in Lesch-Nyhan syndrome.
15990111 2005 The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle.
15987524 2005 Qualitatively and quantitatively similar effects of active and passive maternal tobacco smoke exposure on in utero mutagenesis at the HPRT locus.
15862284 2005 Normal HPRT coding region in a male with gout due to HPRT deficiency.
15862283 2005 Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
15779006 2005 An inactive X specific replication origin associated with a matrix attachment region in the human X linked HPRT gene.
15772651 2005 The DNA sequence of the human X chromosome.
15601998 2004 A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?
15571224 2004 Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.
15571223 2004 Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
15571222 2004 Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
15571220 2004 The spectrum of mutations causing HPRT deficiency: an update.
15491638 2004 Studies on the HPRT mutant frequency in T lymphocytes from healthy Indian male population as a function of age and smoking.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15277709 2004 Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
15204312 Differences in HPRT mutant frequency among middle-aged Flemish women in association with area of residence and blood lead levels.
15178494 2004 A non-active site mutation in human hypoxanthine guanine phosphoribosyltransferase expands substrate specificity.
15146465 2004 Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
14767555 2004 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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12874812 2003 Comparative analysis of HPRT mutant frequency in children with cancer.
12616531 2003 Same origins of DNA replication function on the active and inactive human X chromosomes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12376523 2002 In utero DNA damage from environmental pollution is associated with somatic gene mutation in newborns.
12175903 2002 Mutational spectral analysis at the HPRT locus in healthy children.
11591653 2001 Protein-protein interaction panel using mouse full-length cDNAs.
11434773 2001 A transition-state analogue reduces protein dynamics in hypoxanthine-guanine phosphoribosyltransferase.
11219770 2001 Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.
10360366 1999 The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.
10338013 1999 Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.
9824441 1998 Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
9521733 1998 Catalysis in human hypoxanthine-guanine phosphoribosyltransferase: Asp 137 acts as a general acid/base.
9452051 1998 The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
9003484 1997 An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.
8643611 1996 Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.
8524221 1995 Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene.
8485579 1993 Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
8044844 1994 The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.
7987318 1994 Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
7627191 1995 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.
7107641 1982 Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.
6930669 1980 Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
6853716 1983 Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
6853490 1983 Human hypoxanthine-guanine phosphoribosyltransferase.
6706936 1984 Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
6572373 1983 Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
6343377 1983 A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases.
6309910 1983 Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
6300847 1983 Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.
6204922 1984 Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
6087154 1984 Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
3921964 1985 Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement.
3909940 1985 HPRT: gene structure, expression, and mutation.
3527873 1986 Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes.
3384338 1988 Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
3358423 1988 Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
3320967 1987 Characterisation of cDNA clones for hypoxanthine-guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein.
3265398 1988 Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
3198771 1988 Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
3148064 1988 Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
3023844 1986 Fine structure of the human hypoxanthine phosphoribosyltransferase gene.
3008106 1986 The organization of the human HPRT gene.
2928313 1989 Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
2910902 1989 Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
2909537 1989 Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
2896620 1988 Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
2835825 1988 Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
2760209 1989 Molecular analysis of a female Lesch-Nyhan patient.
2738157 1989 Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
2572141 1989 Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
2358296 1990 Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
2347587 1990 Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
2341149 1990 Automated DNA sequencing of the human HPRT locus.
2246854 1990 Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
2071157 1991 Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
2018042 1991 Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
1937471 1991 Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
1840476 1991 Identification of two independent Japanese mutant HPRT genes using the PCR technique.
1551676 1992 The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
1487231 1992 A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
1301916 1992 Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
659426 1978 Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure.