|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
This type of defect with alterations in the kinetic and physical properties of APRT as described here is likely to be a common type of APRT deficiency in Japan.
|
2418331 |
1986 |
|
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 |
|
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 |
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 |
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 |
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 |
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
|
2227934 |
1990 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The comparative analysis shown here also provides structural information for the mechanism by which mutations in the human APRT lead to DHA-urolithiasis.
|
15196008 |
2004 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We describe a Czech patient with combined adenine phosphoribosyltransferase (APRT) deficiency (2,8-dihydroxyadenine urolithiasis) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency (mucopolysaccharidosis Type IVA, Morquio disease A).
|
10479485 |
1999 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups.
|
2227951 |
1990 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis.
|
3767554 |
1986 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families.
|
3876264 |
1985 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report here the first evidence that 2,8-dihydroxyadenine urolithiasis developed in a boy aged 2 years with a genotype of APRT*J/APRT*Q0.
|
2227934 |
1990 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
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 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
|
15571218 |
2004 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Adenine phosphoribosyltransferase (APRT) is a purine metabolic enzyme and a homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis.
|
9521589 |
1998 |
|
2,8-Dihydroxyadenine Urolithiasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Three siblings in a Japanese family experienced recurrent 2,8-dihydroxyadenine urolithiasis despite the presence of adenine phosphoribosyltransferase (APRT) activities in the hemolysates (19.9% to 28.2% of normal value).
|
2418331 |
1986 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Subcellular localization of cyclic AMP-responsive element binding protein-regulated transcription coactivator 2 provides a link between obesity and breast cancer in postmenopausal women.
|
19509226 |
2009 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
8-Chloro-cyclic AMP inhibits autocrine and angiogenic growth factor production in human colorectal and breast cancer.
|
9815703 |
1997 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The purpose of this study was to investigate the potential correlation between lactate dehydrogenase A (LDHA) and AMP-activated protein kinase (AMPK) and their clinicopathologic significance in breast cancer.
|
27598996 |
2016 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Discovery of a Small-Molecule Bromodomain-Containing Protein 4 (BRD4) Inhibitor That Induces AMP-Activated Protein Kinase-Modulated Autophagy-Associated Cell Death in Breast Cancer.
|
29172540 |
2017 |