|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
|
12204010 |
2002 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previous studies have mapped cystinosis to the CTNS gene which is located on chromosome 17p13, and various CTNS mutations have been identified to correlate them with this disease.
|
30849045 |
2019 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
|
17643777 |
2007 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene.
|
29421779 |
2018 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
|
22232659 |
2012 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
|
15128704 |
2004 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
|
26266097 |
2015 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this review, we are describing a different mechanism by which HSPC-derived cells provide cystinosin to diseased cells within tissues, and how HSPC transplantation could be an effective one-time treatment to treat cystinosis but also other LSDs associated with a lysosomal transmembrane protein dysfunction.
|
29789935 |
2019 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
|
15128704 |
2004 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
CTNS mutations in patients with cystinosis.
|
10571941 |
1999 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cystinosis is a rare autosomal recessive disease characterized by cystine crystal accumulation leading to multiorgan dysfunctions and caused by mutation in CTNS.
|
22649030 |
2012 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<b>Conclusion:</b> We show WES is a cost and time efficient genetic diagnostics modality to identify the underlying molecular pathology in Cystinosis individuals and provide a summary of all previously reported CTNS alleles in the Middle east population.
|
30949462 |
2019 |
|
Cystinosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Despite the ubiquitous expression of cystinosin, a renal Fanconi syndrome is often the first manifestation of cystinosis, usually presenting within the first year of life and characterized by the early and severe dysfunction of proximal tubule cells, highlighting the unique vulnerability of this cell type.
|
27990015 |
2017 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
|
19863563 |
2009 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By screening for mutations in the CTNS exons and promotor region, we report 14 novel mutations associated with cystinosis: 11 underlying infantile cystinosis, two juvenile cystinosis, and one associated with an atypical form of the disease.
|
12442267 |
2002 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we show that human mesenchymal stem cells, from amniotic fluid or bone marrow, reduce pathologic cystine accumulation in co-cultured CTNS mutant fibroblasts or proximal tubular cells from cystinosis patients.
|
22912749 |
2012 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
|
10556299 |
1999 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results indicated that the F344-Ctns<sup>ugl</sup> rat provides a novel rat model of cystinosis, which allows not only a better understanding of the pathogenesis and pathophysiology of cystinosis but will also contribute to the development of new therapies.
|
30591971 |
2019 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human cystinosin gene (CTNS) cause cystinosis, a recessive autosomal disorder.
|
29467429 |
2018 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The causative gene for cystinosis is <i>CTNS</i>, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter.
|
28082515 |
2017 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
|
10556299 |
1999 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
|
22528245 |
2012 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
CTNS mutations in an American-based population of cystinosis patients.
|
9792862 |
1998 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CTNS mutations in patients with cystinosis.
|
10571941 |
1999 |
|
Cystinosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In mutants of ctns-1 (C. elegans homolog of CTNS), LAAT-1 was required to reduce lysosomal cystine levels and suppress lysosome enlargement by cysteamine, a drug that alleviates cystinosis by converting cystine to a lysine analog.
|
22822152 |
2012 |