CLDN14 Antibody

1. This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. PMID: 29434063
2. CLDN14 might not be a major causative gene for NSHL in Chinese populations, which would contribute to fully understanding the genetic cause of NSHL in the East Asian populations PMID: 29447821
3. Our data suggest that children with the INSM1 binding site within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones. Enhanced CLDN14 expression may play a role in the pathophysiology of their hypercalciuria. PMID: 28229505
4. All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness. PMID: 27629923
5. Extensive clinical recruitment and targeted screening suggest that CLDN14 p.(Ala163Val) represents a major founder variant for prelingual sensorineural hearing loss in the Newfoundland population. PMID: 27838790
6. CLDN14 is a novel direct target of EZH2-mediated H3K27ME3 and plays role in EZH2-H3K27ME3-mediated hepatocellular carcinoma aggressiveness. PMID: 27207647
7. The rs170183 was correlated with a decline in claudin 14 expression in both lymphoblastoid cell lines and T cells. PMID: 26842849
8. Rs1801725 (Ala986-Ser), rs1042636 (Arg990Gly) of CaSR gene and rs219778, rs219780 (Thr229Thr) of CLDN14 gene were significantly associated with kidney stone disease in patients from the Eastern part of India. PMID: 26107257
9. Claudin 14 expression was up-regulated in gastric cancer. PMID: 24325792
10. Data suggest a possible role for Claudin14 in urinary calcium excretion. PMID: 23991001
11. CLDN14 mutations can contribute to the aetiology of childhood/congenital deafness in Moroccan patients. PMID: 23590985
12. Human Cldn-8 and -14 were shown to convey Clostridium perfringens enterotoxin-mediated cytotoxicity at pathophysiologically relevant concentrations of this toxin, although ~2-to-10-fold less efficiently than Cldn-4. PMID: 23322640
13. OPRM1 genetic polymorphisms are associated with the plasma concentration of cotinine in a Taiwanese MMT cohort. Carriers with the major allele of SNP rs1799971 had a higher plasma cotinine concentration. PMID: 23235333
14. The hearing loss due to novel CLDN14 mutations is prelingual, severe-to-profound with greater loss in the high frequencies. PMID: 22246673
15. The CLDN14 promoter is activated by Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells. PMID: 20494980
16. Individuals with mutations of CLDN14 may have different degrees of hearing loss and the loss is greater at higher frequencies. PMID: 20811388
17. The palmitoylation of claudin-14 is required for efficient localization into tight junctions but not stability or strand assembly. PMID: 15769849
18. The ability of CLDN14 to be recruited to these junctions is crucial for the hearing process. PMID: 15880785
19. Common, synonymous variants in the CLDN14 gene that associate with kidney stones, were discovered. PMID: 19561606

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HGNC: 2035

OMIM: 605608

KEGG: hsa:23562

STRING: 9606.ENSP00000339292

UniGene: Hs.660278