|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Swallowing Severity Score varied directly with the severity of muscle disease, but was not correlated with the presence or absence of the 57-kb CTNS deletion that commonly occurs in nephropathic cystinosis patients.
|
15879904 |
2005 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of CTNS mutations in Arab patients with cystinosis.
|
19852576 |
2009 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
|
10556299 |
1999 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
|
10556299 |
1999 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
|
12442267 |
2002 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel CTNS mutations in cystinosis patients in Thailand.
|
22450360 |
2012 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
|
24464559 |
2014 |
|
Nephropathic cystinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
|
12442267 |
2002 |
|
Nephropathic cystinosis
|
1.000 |
Biomarker
|
disease |
MGD |
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
|
12370309 |
2002 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
|
9537412 |
1998 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
|
19863563 |
2009 |
|
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 |
GENOMICS_ENGLAND |
|
|
|
|
Nephropathic cystinosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
The Swallowing Severity Score varied directly with the severity of muscle disease, but was not correlated with the presence or absence of the 57-kb CTNS deletion that commonly occurs in nephropathic cystinosis patients.
|
15879904 |
2005 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of CTNS causing intermediate cystinosis.
|
10444339 |
1999 |
|
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 |
To analyze the mechanisms involved in cell damage in NC, we have investigated the effects of CTNS gene overexpression or inhibition on cell thiol/disulfide systems and vice versa.
|
20079424 |
2010 |
|
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 |
Characterization of CTNS mutations in Arab patients with cystinosis.
|
19852576 |
2009 |
|
Nephropathic cystinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of the CTNS gene in Italy.
|
12825071 |
2003 |