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Human Monoclonal GJB3 Primary Antibody für IF, ELISA - ABIN561044
Tattersall, Scott, Gray, Zicha, Kelsell: EKV mutant connexin 31 associated cell death is mediated by ER stress. in Human molecular genetics 2009
The mutation frequencies of GJB2 (zeige GJB2 Antikörper), SLC26A4 (zeige SLC26A4 Antikörper), GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China
GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant
The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 (zeige SLC26A4 Antikörper) and GJB3 genes.
study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1 (zeige FOSB Antikörper)-mediated mechanism and identifies a small molecule with therapeutic potential of the disease
identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL
Mutations in 12S rRNA, SLC26A4 (zeige SLC26A4 Antikörper), GJB2 (zeige GJB2 Antikörper) and GJB3 are highly associated with deafness.
The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss.
In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families.
We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family.
GJB3 and GJB6 (zeige GJB6 Antikörper) genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss.
Prostaglandin E stimulates Connexin isoforms via GSK-3beta/beta-catenin (zeige CTNNB1 Antikörper) via EP2-receptor-dependent cAMP/PKA and PI3K/Akt (zeige AKT1 Antikörper) in mouse embryonic stem cells.
Connexin 31-deficient trophoblast stem cells revealed a shift in giant cell differentiation from Prl3d1 expressing parietal giant cells to Ctsq, Prl3b1, and Prl2c2-positive giant cells.
Expression profile of the Gjb3 in the developing mouse cochlea
Mutant cx31 showed reduced phosphorylation levels compared to Cx31 wild type, indicating a pivotal role of serine residue 266 for Cx31 phosphorylation, but didn't interfere with correct intracellular trafficking of gap junction proteins.
During trophoblast cell lineage differentiation, the Cx31 gap junction channel is involved in maintaining the proliferative diploid trophoblast cell population.
Cx31/Cx43 (zeige GJA1 Antikörper) double-deficient mice exhibit the known phenotypes of the single-knockout strains but no combined effects
Cx31 and Cx43 (zeige GJA1 Antikörper) proteins functionally interact, possibly by forming heteromeric channels in the epidermis.
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
, gap junction beta-3 protein
, gap junction membrane channel protein beta 3
, connexin 31 b
, gap junction protein, beta 3 b
, gap junction protein, beta 3, 31kDa
, gap junction beta 3