|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our ongoing studies indicate that cystine diamides are effective in preventing cystine stone formation in the Slc3a1 knockout mouse model for cystinuria.
|
30515543 |
2019 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our previous studies from Iranian populations with Cystinuria totally six and eleven novel mutations respectively identified in SLC3A1 and SLC7A9 genes.
|
30069816 |
2018 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
|
28049243 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
|
28717662 |
2017 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group).SLC3A1 and SLC7A9 were sequenced.
|
28646536 |
2017 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
|
28646536 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Report of <i>SLC3A1</i>/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.
|
28461819 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using a literature search, we collated a set of 94 SLC3A1 and 58 SLC7A9 point mutations known to be associated with cystinuria.
|
28812535 |
2017 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
MGD |
α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria.
|
28165480 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria is associated with mutations in the SLC3A1 and SLC7A9 genes.
|
28270646 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In molecular term, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene).
|
26837681 |
2016 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.
|
26537754 |
2016 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
|
25964309 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients; having such a limited number of causative mutations will simplify diagnostics for this population.
|
26540609 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria is genetically classified into types A and B. Mutations in the SLC3A1 gene lead to type A, and type B is caused by mutations in the SLC7A9 gene.
|
25599739 |
2015 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
|
25296721 |
2015 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
|
25964309 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The genetic diversity of cystinuria in a UK population of patients.
|
25109415 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Considering the few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1 and SLC7A9 genes, in the present study, mutation analysis of these two genes was performed in a cohort of Iranian patients with cystinuria.
|
26123750 |
2015 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
MGD |
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
|
25048459 |
2014 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on our findings, we conclude that c.225C > T in SLC7A9 determines the clinical phenotype in this family, whereas additional SLC3A1 mutations aggravate the phenotype in heterozygotes for c.225C > T in SLC7A9 without resulting in cystinuria in the homozygous state.
|
24045899 |
2014 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria.
|
23532419 |
2013 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of cystinuria in south-eastern European countries.
|
23532419 |
2013 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.
|
22493502 |
2012 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
|
21255007 |
2012 |