|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
|
6572373 |
1983 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase.
|
6853490 |
1983 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
|
6706936 |
1984 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
|
3358423 |
1988 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
|
3198771 |
1988 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
|
2896620 |
1988 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
|
2909537 |
1989 |
|
Gout, HPRT-Related
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
|
2347587 |
1990 |
|
Gout, HPRT-Related
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.
|
1934271 |
1991 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although these 'evolutionary conserved' amino acids account for only 32% of the amino acids in the human hprt protein, they are involved in 76% of the missense mutations at the hprt locus in human T-lymphocytes, 67% in Lesch-Nyhan patients (with severe hprt-deficiency), but only 43% in gout patients (with partial hprt deficiency).
|
1306134 |
1992 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
|
7987318 |
1994 |
|
Gout, HPRT-Related
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
|
9288634 |
1997 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carrier testing was performed in 35 women belonging to 16 unrelated Spanish families with at least one subject affected by the Lesch-Nyhan syndrome (11 families, 14 patients) or the Kelley-Seegmiller syndrome (five families, six patients) by means of HPRT and adenine phosphoribosyltransferase activities in hair follicles and/or molecular studies.
|
9824441 |
1998 |
|
Gout, HPRT-Related
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
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.
|
10657589 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
10657589 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
|
11018746 |
2000 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
BEFREE |
In some HPRT-deficient patients the enzyme defect appeared to be "partial" and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome).
|
11307586 |
2001 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
|
15571223 |
2004 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.
|
15571223 |
2004 |
|
Gout, HPRT-Related
|
0.800 |
Biomarker
|
disease |
BEFREE |
After performing purine metabolic studies, it was determined that the two siblings suffered from partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Kelley-Seegmiller syndrome).
|
16245252 |
2005 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene.
|
15965771 |
2005 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
|
17027311 |
2007 |
|
Gout, HPRT-Related
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In the present study we present four patients with partial HPRT deficiency and one patient with Lesch-Nyhan syndrome who showed a normal HPRT coding sequence and markedly decreased HPRT mRNA expression.
|
18316217 |
2008 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.
|
18600506 |
2008 |
|
Gout, HPRT-Related
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1.
|
20544509 |
2010 |