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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 ELISA Kits)-mediated H3K27ME3 and plays role in EZH2 (zeige EZH2 ELISA Kits)-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 ELISA Kits)), rs1042636 (Arg990Gly) of CaSR (zeige CASR ELISA Kits) 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.
Human Cldn-8 (zeige CLDN8 ELISA Kits) 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 (zeige CLDN4 ELISA Kits).
OPRM1 (zeige OPRM1 ELISA Kits) 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.
The hearing loss due to novel CLDN14 mutations is prelingual, severe-to-profound with greater loss in the high frequencies.
claudin-14-targeting miR (zeige MLXIP ELISA Kits)-9 and miR (zeige MLXIP ELISA Kits)-374, rather than promoter of the claudin-14 gene itself, regulated through histone deacetylation
describe a CaSR (zeige CASR ELISA Kits)-NFATc1 (zeige NFATC1 ELISA Kits)-microRNA-claudin-14 signaling pathway in the kidney that underlies paracellular Ca(++) reabsorption through the tight junction
Activation of the Ca(2 (zeige CA2 ELISA Kits)+)-sensing receptor in the thick ascending limb increases Cldn14 expression, which in turn blocks the paracellular reabsorption of Ca(2 (zeige CA2 ELISA Kits)+).
MiR (zeige MLXIP ELISA Kits)-9 and miR (zeige MLXIP ELISA Kits)-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 ELISA Kits)/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.