Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adenine phosphoribosyltransferase deficiency in children.
|
22212387 |
2012 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Adenine phosphoribosyltransferase deficiency.
|
22700886 |
2012 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected.
|
22700886 |
2012 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
|
21635362 |
2011 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency.
|
20101413 |
2010 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Results of the first patient harbouring the homozygous 254 bp deletion-8 bp insertion of the APRT gene strongly indicated that definitive diagnosis of APRT deficiency (often under or misdiagnosed) would require a combined clinical, biochemical and molecular biological evaluation.
|
17126311 |
2007 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.
|
15571218 |
2004 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.
|
15571218 |
2004 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
|
11243733 |
2001 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
|
11243733 |
2001 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
MGD |
Sequential analysis of kidney stone formation in the Aprt knockout mouse.
|
11532086 |
2001 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
MGD |
Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.
|
9689017 |
1998 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT activities were 4.5% and 4.0% of normal, respectively.
|
9255672 |
1997 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
MGD |
We have generated an APRT-deficient mouse line by gene targeting, with a phenotype that closely resembled the symptoms of APRT deficiency in man.
|
8864750 |
1996 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
MGD |
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
|
8643571 |
1996 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have previously shown that APRT deficiency in an APRT heterozygous human cell line, MR12-1, was predominantly caused by the loss of the remaining wild-type allele.
|
9067427 |
1996 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
|
7915931 |
1994 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
|
8455250 |
1993 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
|
1353080 |
1992 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
|
1353080 |
1992 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
|
1353080 |
1992 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
|
1746557 |
1991 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
|
2227934 |
1990 |
Adenine phosphoribosyltransferase deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data indicate that the wide distribution of the unique mutant gene, APRT*J, that was created many years ago in a Japanese ancestor, explains at least in part the large number of 2,8-dihydroxyadenine lithiasis and adenine phosphoribosyltransferase deficiency families among the Japanese.
|
3193517 |
1988 |