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Using reconstituted hemichannels in a liposome-based transport-specific fractionation assay, we confirmed that homomeric Cx26 and Cx32 (show GJB1 Proteins) and heteromeric Cx26/Cx32 (show GJB1 Proteins) are permeable to GSH and other endogenous reductants.
the development of a novel strategy to differentiate induced pluripotent stem cells into functional CX26-gap junction plaque-forming cells.
The hearing loss and the reduction of active amplification in the Cx26 targeted-deletion mice are progressive and different at high and low frequency regions, first occurring in the high frequency region and then progressively extending to the middle and low frequency regions with mouse age increased.
In connexin knock-outs, Cx26 and Cx30 (show GJB6 Proteins), inner hair cells remained stuck at a prehearing stage of development.
Reduced Cx26 expression in the mature mouse cochlea may increase susceptibility to noise-induced hearing loss .
mir (show MLXIP Proteins)-27a was identified as an apoptotic molecule that participates in Cx26 knockout-induced apoptosis in the cochlear sensory epithelium of mice by downregulating sgk1 (show SGK1 Proteins) expression
Cx26 knockout predisposes the mammary gland to primary mammary tumors in a DMBA-induced mouse model of breast cancer.
Cx26-mediated intercellular communication is required for cochlear development and that deficiency of Cx26 can impair miRNA-mediated intercellular genetic communication in the cochlea, which may lead to cochlear developmental disorders
presence of Cx30 (show GJB6 Proteins) in the cochlea does not compensate for Cx26 loss, and the absence of both connexins from vestibular sensory epithelia is no more injurious than the absence of one of them
Reciprocal positive regulation between Cx26 and PI3K/Akt (show AKT1 Proteins) pathway confers acquired gefitinib resistance in non-small-cell lung carcinoma cells by promoting epithelial mesenchymal transition via a gap-junctional communication-independent manner.
The inserting reconstituted gap junction Cx26 liposomes into the oocytes allowed the demonstration of intracellular/extracellular Ca(2 (show CA2 Proteins)+)-regulated hemi-channel activities.
GJB2 and ERO1LB (show ERO1LB Proteins) are implicated in pancreatic cancer progression and can be used to predict patient survival
Significant proportion of children with unilateral sensori-neural hearing loss may have positive genetic testing while the vast majority of these children present with heterozygous mutations of connexin 26 (GJB2)
WFS1 (show WFS1 Proteins) and GJB2 mutations were identified in eight of 74 cases of Low-Frequency Sensorineural Hearing Loss. Four cases had heterozygous WFS1 (show WFS1 Proteins) mutations; one had a heterozygous WFS1 (show WFS1 Proteins) mutation and a heterozygous GJB2 mutation; and three cases had biallelic GJB2 mutations. Three cases with WFS1 (show WFS1 Proteins) mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents.
results demonstrate that 19.2% patients with nonsyndromic deafness were caused by mutations in three common deafness genes (GJB2, SLC26A4 (show SLC26A4 Proteins) and 12S rRNA) in our northern China patient group
GJB2-related deafness leads to significantly better cochlear implantation outcomes when compared with acquired deafness caused by environmental etiologies. However, GJB2 mutation is not associated with a significantly better prognosis when compared with those whose deafness results from either nonsyndromic hearing loss of unknown origin or other types of genetic mutations in the absence of other neurologic deficits.
expression of Cx26 (also known as GJB2) in HeLa cells specifically enhances cell motility in scrape wounding and sparse culture models.
Results found that the contribution of the GJB2 gene pathogenic variants to hearing impairment in the population of the Sakha Republic was the highest among all of the regions of Asia studied previously suggesting that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population may indicate the possible selective advantage of the c.-23+1G>A carriers living in the subarctic climate.
Reduced expression of Cx26 and Cx43 (show GJA1 Proteins) is implicated in the pathophysiology of colonic dysmotility in the aganglionic bowel as well as, in the case of Cx26, the ganglionic bowel in Hirschsprung's disease.
These findings suggest that Cx26 mutants that promote cell death or exert transdominant effects on other connexins in keratinocytes will lead to skin diseases and hearing loss
Cx26-Asp50Asn with the second-site mutations identified in the patient displayed no formation of gap junction channel plaques. We argue that the second-site mutations independently inhibit Cx26-Asp50Asn expression in gap junction channels, reverting the dominant negative effect of the p.Asp50Asn mutation
intermediate invasive status of bovine trophoblast is supported by the fact that trophoblast giant cells coexpress connexins (Cx)26, Cx32 (show GJB1 Proteins), and Cx43 (show GJA1 Proteins)
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness.
gap junction protein, beta 2, 26kDa
, connexin 26
, connexin 29
, gap junction membrane channel protein beta 6
, gap junction protein, beta 2, 26kDa (connexin 26)
, gap junction beta-2 protein
, gap junction membrane channel protein beta 2
, gap junction channel protein connexin 26
, gap junction protein beta 2
, connexin 26 protein