|
Cystinuria
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands.
|
15635077 |
2005 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
|
12234283 |
2002 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria is discussed relative to mutations in SLC3A1 and SLC7A9.
|
15021200 |
2004 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystinuria in a patient with a novel mutation in SLC7A9 gene.
|
25599739 |
2015 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
|
18778962 |
2008 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
|
21255007 |
2012 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
|
12239244 |
2002 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
|
12234283 |
2002 |
|
Cystinuria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
|
12234283 |
2002 |
|
Cystinuria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystinuria: an inborn cause of urolithiasis.
|
22480232 |
2012 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Defects in two genes of this family (SLC3A1, encoding rBAT and SLC7A9, encoding b(o,+)AT) are responsible for cystinuria, an inherited aminoaciduria of cystine and dibasic amino acids.
|
11396607 |
2001 |
|
Cystinuria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
|
18332091 |
2008 |
|
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 |
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 |
CLINVAR |
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
|
25296721 |
2015 |