|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Cystinosis is a lysosomal storage disorder and, despite ubiquitous expression of cystinosin, the kidney is the primary organ impacted by the disease.
|
30928021 |
2019 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previous studies of hematopoietic stem and progenitor cell (HSPC) transplantation for the lysosomal storage disorder cystinosis have shown that HSPC-derived macrophages form TNTs to deliver cystinosin-bearing lysosomes to cystinotic cells, leading to tissue preservation.
|
31601865 |
2019 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
|
30957593 |
2019 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study objective was to determine whether individuals with cystinosis and carriers of the cystinosin gene mutation show deficits in global and/or local processing.
|
30671973 |
2019 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease.
|
30554218 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human cystinosin gene (CTNS) cause cystinosis, a recessive autosomal disorder.
|
29467429 |
2018 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cystinosis is a lysosomal storage disease due to inactivating mutations in CTNS, the cystinosin transporter that exports cystine out of lysosomes.
|
29806776 |
2018 |
|
Cystinosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The kidney proximal tubular cells (PTCs) have become the focus of various studies on cystinosin since the protein is highly expressed in these cells and kidney proximal tubular transport dysfunction is the foremost clinical manifestation of cystinosis.
|
30513914 |
2018 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No mutation was detected in exon 5, and only one (3.6%) patient with cystinosis showed a previously reported 4-bp deletion in exon 3 of CTNS.
|
28238446 |
2018 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.
|
30030899 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Our data demonstrate that, ctns gene is essential for zebrafish pronephric podocyte and proximal tubular function and that the ctns-mutant can be used for studying the disease pathogenic mechanisms and for testing novel therapies for cystinosis.
|
28198397 |
2017 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Cystinosis is a genetic disorder caused by malfunction of cystinosin and is characterized by accumulation of cystine.
|
28033491 |
2017 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here we studied podocyte damage in patients with cystinosis by analyzing urinary podocyte excretion and by in vitro studies of podocytes deficient in cystinosin.
|
27083281 |
2016 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
|
27533158 |
2016 |
|
Cystinosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey.
|
27269891 |
2016 |
|
Cystinosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, these data show that the consequences of cystinosin deficiency are not restricted to cystine accumulation and support the role of TFEB as a therapeutic target for the treatment of lysosomal storage diseases, in particular of cystinosis.
|
26994576 |
2016 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
|
26489029 |
2016 |
|
Cystinosis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
|
26266097 |
2015 |