×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
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
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
BEFREE
The Ctns gene encodes the cystine transporter, which transports cystine out of the lysosome and is responsible for nephropathic cystinosis in humans.
30591971
2019
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
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
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
BEFREE
Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin .
31331465
2019
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
BEFREE
Bone disease in nephropathic cystinosis is related to cystinosin -induced osteoclastic dysfunction.
29365190
2018
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
CLINVAR
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
29421779
2018
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
BEFREE
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
28238446
2018
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
BEFREE
These observations were validated in CTNS -silenced HK-2 cells, indicating a pivotal role of mitochondrial cAMP in the proximal tubular dysfunction observed in NC .
29549422
2018
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
CLINVAR
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
28238446
2018
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
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
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.
27858370
2017
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
26565940
2017
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin.
27451386
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Cystinosis: a review.
27102039
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
BEFREE
This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter ) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey.
27269891
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
28276207
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
CLINVAR
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
28276207
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
26266097
2015
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
CLINVAR
Common mutation causes cystinosis in the majority of black South African patients.
25326109
2015
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Common mutation causes cystinosis in the majority of black South African patients.
25326109
2015
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
CTNS mutations in publicly-available human cystinosis cell lines.
28649545
2015
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
24464559
2014
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
GeneticVariation
disease
CLINVAR
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
24464559
2014
×
Entrez Id:
1497
Gene Symbol:
CTNS
CTNS
1.000
CausalMutation
disease
CLINVAR
The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
23640116
2013