|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis.
|
26565940 |
2017 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions or inactivating mutations of the cystinosin gene <i>CTNS</i> lead to cystine accumulation and crystals at acidic pH in patients with nephropathic cystinosis, a rare lysosomal storage disease and the main cause of hereditary renal Fanconi syndrome.
|
31548351 |
2019 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CTNS mutations in an American-based population of cystinosis patients.
|
9792862 |
1998 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
|
12204010 |
2002 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
|
19580442 |
2009 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.
|
11855931 |
2002 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
|
12204010 |
2002 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
|
18752449 |
2008 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of CTNS gene transcripts in nephropathic cystinosis.
|
20352457 |
2010 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
|
15365816 |
2004 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
|
18752449 |
2008 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
|
18752449 |
2008 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal cystine co-transporter cystinosin, and for a less abundant isoform termed cystinosin-LKG, which is expressed in not only lysosomes but also other cell compartments.
|
22544350 |
2012 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
CTNS mutations in an American-based population of cystinosis patients.
|
9792862 |
1998 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
|
30413946 |
2019 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
|
11505338 |
2001 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Common mutation causes cystinosis in the majority of black South African patients.
|
25326109 |
2015 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
|
29421779 |
2018 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genetic basis of cystinosis in Turkish patients: a single-center experience.
|
21786142 |
2012 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
|
10482956 |
1999 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the CTNS gene in Italy.
|
12825071 |
2003 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
|
19863563 |
2009 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
|
10417278 |
1999 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
|
28238446 |
2018 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.
|
11565547 |
2001 |