|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
|
20052367 |
2010 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most mutations in the rBAT subunit of the heterodimeric cystine transporter rBAT-b(0,+)AT cause type I cystinuria.
|
18332091 |
2008 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively.
|
12167606 |
2002 |
|
Cystinuria type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have been demonstrated in non-type I cystinuria.
|
12234283 |
2002 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A second cystinuria gene (SLC7A9) was recently isolated, and mutations of this gene were associated with dominant (non-Type I) cystinuria alleles.
|
12371955 |
2002 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients.
|
11157794 |
2001 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Applying two methods for linkage disequilibrium analysis to haplotype data spanning six 19q12-q13.1 polymorphic markers, and relying on the physical distances between the markers and the recently mapped SLC7A9 (CSNU3) locus, the age of the founder missense V170M mutation causing non-type I cystinuria in Jews of Libyan ancestry is calculated to be approximately 14 to 15 generations (g) (95% confidence interval: 9-20 g) or slightly more.
|
11013083 |
2000 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 1999, a putative light subunit of rBAT (the SLC7A9 gene; complementary DNA and protein termed amino acid transporter) and a light subunit of 4F2hc (the SLC7A7 gene; cDNA and protein termed y+LAT-1) were shown to be the non-type I cystinuria and lysinuric protein intolerance genes, respectively.
|
10990376 |
2000 |
|
Cystinuria type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified a new transcript, encoding a protein (bo, +AT, for bo,+ amino acid transporter) belonging to a family of light subunits of amino acid transporters, expressed in kidney, liver, small intestine and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q locus.
|
10471498 |
1999 |
|
Cystinuria type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
These biochemical, transport, and localization characteristics as well as the chromosomal localization on 19q support the notion that the b(0,+)AT protein is the product of the gene defective in non-type I cystinuria.
|
10588648 |
1999 |