|
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 |
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 |
|
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 |
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 |
|
Nephropathic cystinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction.
|
29365190 |
2018 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
|
29421779 |
2018 |
|
Nephropathic cystinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
|
28238446 |
2018 |
|
Nephropathic cystinosis
|
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 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.
|
27858370 |
2017 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
|
26565940 |
2017 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin.
|
27451386 |
2016 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cystinosis: a review.
|
27102039 |
2016 |
|
Nephropathic cystinosis
|
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 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
|
28276207 |
2016 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
|
28276207 |
2016 |
|
Nephropathic cystinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
|
26266097 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Common mutation causes cystinosis in the majority of black South African patients.
|
25326109 |
2015 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CTNS mutations in publicly-available human cystinosis cell lines.
|
28649545 |
2015 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
|
24464559 |
2014 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
|
24464559 |
2014 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
|
23640116 |
2013 |