|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With the exclusion of SLC7A13/AGT1 as the third cystinuria gene accounting for the SLC3A1 and SLC7A9 mutation negative cases, it becomes obvious that other genetic factors should be responsible for the cystinuria phenotype in nearly 15% of patients.
|
30342472 |
2018 |
|
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 |
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 |
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
|
28717662 |
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 |
GeneticVariation
|
disease |
BEFREE |
Exon 4 of the SLC7A9 gene was sequenced in 21 patients with cystinuria, using the polymerase chain reaction and sequencing methods.
|
28270646 |
2017 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
|
28812535 |
2017 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It is made up of two disulfide-linked membrane subunits: the carrier, b(0,+)AT and the helper, rBAT (related to b(0,+) amino acid transporter). rBAT mutations that impair biogenesis of the transporter cause type I cystinuria.
|
26537754 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
|
26123750 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
|
25296721 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria in a patient with a novel mutation in 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 |
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 |
Biomarker
|
disease |
CLINGEN |
Proteomics. Tissue-based map of the human proteome.
|
25613900 |
2015 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
|
25296721 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One patient had three sequence variants in SLC7A9; however, two are of unknown significance.Three patients had type AB cystinuria.Three had a single mutation in SLC7A9.
|
25109415 |
2015 |
|
Cystinuria
|
1.000 |
Biomarker
|
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 |
Biomarker
|
disease |
CLINGEN |
Molecular characterization of cystinuria in south-eastern European countries.
|
23532419 |
2013 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a renal b(0,+) transporter while SLC7A9 (chromosome 19q12) encodes its interacting light subunit b(0,+)AT.
|
22480232 |
2012 |