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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 (zeige SLC26A4 Proteine) (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai.
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
Our data suggest that children with the INSM1 (zeige INSM1 Proteine) 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.
All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness.
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.
CLDN14 is a novel direct target of EZH2 (zeige EZH2 Proteine)-mediated H3K27ME3 and plays role in EZH2 (zeige EZH2 Proteine)-H3K27ME3-mediated hepatocellular carcinoma aggressiveness.
The rs170183 was correlated with a decline in claudin 14 expression in both lymphoblastoid cell lines and T cells.
Rs1801725 (Ala986-Ser (zeige SIGLEC1 Proteine)), rs1042636 (Arg990Gly) of CaSR (zeige CASR Proteine) gene and rs219778, rs219780 (Thr229Thr) of CLDN14 gene were significantly associated with kidney stone disease in patients from the Eastern part of India.
Claudin 14 expression was up-regulated in gastric cancer.
CLDN14 mutations can contribute to the aetiology of childhood/congenital deafness in Moroccan patients.
These findings suggest that (1) the changes in endolymphatic ion concentrations might not be involved in hair cells degeneration in Cldn14(-/-), (2) [Ca]e might be regulated by endocochlear potential in both Wt and Cldn14(-/-).
High Cldn14 is associated with hypoparathyroidism.
claudin-14-targeting miR (zeige MLXIP Proteine)-9 and miR (zeige MLXIP Proteine)-374, rather than promoter of the claudin-14 gene itself, regulated through histone deacetylation
describe a CaSR (zeige CASR Proteine)-NFATc1 (zeige NFATC1 Proteine)-microRNA-claudin-14 signaling pathway in the kidney that underlies paracellular Ca(++) reabsorption through the tight junction
Activation of the Ca(2 (zeige CA2 Proteine)+)-sensing receptor in the thick ascending limb increases Cldn14 expression, which in turn blocks the paracellular reabsorption of Ca(2 (zeige CA2 Proteine)+).
MiR (zeige MLXIP Proteine)-9 and miR (zeige MLXIP Proteine)-374 transcript levels are regulated by extracellular Ca(++) in a reciprocal manner as claudin-14.
To explore the role of claudin 14 in the inner ear and in other tissues we created a mouse model by a targeted deletion of Cldn14.
We generated claudin 11 (zeige CLDN11 Proteine)/claudin 14 double-deficient mice, which exhibit deafness, neurological deficits, and male sterility. Kidney function and ion balance are not significantly affected.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene.