CTNS Antibody

1. 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 PMID: 28238446
2. Potential dual function of PQ-loop proteins such as cystinosin. PMID: 28887435
3. 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. PMID: 27656773
4. This work demonstrated no major abnormality ofER and lysosomal Ca2+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells. PMID: 27451386
5. 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. PMID: 26565940
6. 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. PMID: 28082515
7. silencing of AP-2 triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking PMID: 27148969
8. 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. PMID: 28276207
9. GCK mutations are associated with Cystinosis. PMID: 27269891
10. Lack of cystinosin reduced TFEB expression and induced TFEB nuclear translocation. PMID: 26994576
11. CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis. PMID: 27083281
12. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations. PMID: 26655004
13. 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. PMID: 25811383
14. CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. PMID: 22544350
15. 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 PMID: 25866837
16. 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. PMID: 25326109
17. The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC PMID: 23640116
18. Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin] PMID: 22363504
19. 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 PMID: 22649030
20. 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. PMID: 22450360
21. Report CTNS mutations in Turkish cystinosis patients. PMID: 21786142
22. cystinosin exports the proteolysis-derived dimeric amino acid cystine from lysosomes and is impaired in cystinosis. PMID: 22232659
23. CTNS plays a pivotal role in regulating cell thiol concentrations. PMID: 21508882
24. gene expression is modulated by intracellular thiols PMID: 20079424
25. Analysis of CTNS gene transcripts allowed identification of mutations in patients in whom CTNS mutations could not be detected by traditional DNA sequencing. PMID: 20352457
26. the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase PMID: 20413906
27. Analysis of the CTNS gene in 32 cystinosis patients from Spain PMID: 19863563
28. G339R mutation is a common cause of nephropathic cystinosis in the southwestern Ontario Amish Mennonite population PMID: 11565547
29. A new homozygous GT-->CC substitution of CTNS creates the out-of-frame splicing of exon 5 and a null allele consistent with the patient's severe phenotype. PMID: 11708862
30. molecular basis of cystinosis - review. PMID: 12401840
31. Data suggest that these individuals carry mutations either in the introns or in unidentified regulatory sequences. PMID: 12442267
32. a 57-kb deletion in CTNS causing cystinosis can be visualized by FISH technique PMID: 15365816
33. Results show that the yeast Ers1 protein and cystinosin are functional orthologues, despite sharing only limited sequence homology. PMID: 15885099
34. There may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood. PMID: 17643777
35. Analysis of the CTNS gene in nephrotic cystinosis Mexian patients: report of four novel mutations and identification of a false-positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. PMID: 18752449
36. Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 3-bp in-frame deletion in exon 10 (c.809_811delCCT), resulting in the loss of a conserved p.Ser270del within the fifth transmembrane domain of CTNS. PMID: 19580442
37. Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del). These alleles will provide the basis for routine molecular diagnosis of cystinosis. PMID: 19852576
38. specific promotor mutations cause cystinosis PMID: 11505338

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HGNC: 2518

OMIM: 219750

KEGG: hsa:1497

STRING: 9606.ENSP00000371294

UniGene: Hs.187667