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Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS
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Potential dual function of PQ-loop proteins such as cystinosin.
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To study the role of the cystinosin-LKG-isoform, we have investigated cystine accumulation and apoptosis that have been described in cystinotic cells. The levels of TNFalpha- and actinomycin D-inducted apoptosis dropped in cystinotic cells expressing LKG-isoform. This effect was also similar to the main isoform.
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This work demonstrated no major abnormality ofER and lysosomal Ca2+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells.
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The coding exons of the CTNS gene in 5 different Jordanian families and one family from Sudan with nephropathic cystinosis were sequenced. None had the European 57-kb deletion. 7 variants in the coding and promoter sequence of the CTNS gene were found: 294C>T, -180T>C, -118C>T, c.504G>A, p.Thr168Thr, c.829dupA in exon 10, and c.890G>A in exon 11.
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Results show that the high turnover of ITILELP mutation (del AA67-73) in cystinosin, because of its immature glycosylation state together with low transport activity, might be responsible for the phenotype observed in some cystinosis patients who carry this mutation.
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silencing of AP-2 triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking
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upon comparison of the patients with cystinosis in this particular region with the European and North American patients, it is clear that different CTNS variants result in this disease.
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GCK mutations are associated with Cystinosis.
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Lack of cystinosin reduced TFEB expression and induced TFEB nuclear translocation.
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CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis.
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Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.
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cystinosin-deficient cells had abnormal shape and distribution of the endo-lysosomal compartments and impaired endocytosis, with decreased surface expression of multiligand receptors and delayed lysosomal cargo processing.
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CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
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identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS and the other at the acceptor site of exon 8
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We recommend that black South African and Cape Coloured patients presenting with cystinosis be tested for CTNS-c.971-12G > A in the first instance, with the possibility of prenatal testing being offered to at-risk families.
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The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC
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Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin]
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results objectify the pigmentation defect in patients with cystinosis. We also identify the role of CTNS in melanogenesis and add a new gene to the list of the genes involved in the control of skin and hair pigmentation
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Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.
