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anti-Mouse (Murine) GJB2 Antikörper:
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Human Polyclonal GJB2 Primary Antibody für IHC (p), ELISA - ABIN544540
Uyguner, Tukel, Baykal, Eris, Emiroglu, Hafiz, Ghanbari, Baserer, Yuksel-Apak, Wollnik: The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. in Clinical genetics 2002
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Human Polyclonal GJB2 Primary Antibody für WB - ABIN548512
Mignon, Fromaget, Mattei, Gros, Yamasaki, Mesnil: Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization. in Cytogenetics and cell genetics 1997
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Human Polyclonal GJB2 Primary Antibody für ELISA, WB - ABIN547806
Djalilian, McGaughey, Patel, Seo, Yang, Cheng, Tomic, Sinha, Ishida-Yamamoto, Segre: Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. in The Journal of clinical investigation 2006
Using reconstituted hemichannels in a liposome-based transport-specific fractionation assay, we confirmed that homomeric Cx26 and Cx32 and heteromeric Cx26/Cx32 are permeable to GSH and other endogenous reductants.
DC and PC Cx26 expression is essential for cochlear amplification in the stiff basal turn, possibly through maintaining cochlear partition mechanical impedance, thereby ensuring effective transfer of OHC isometric forces.
Partial loss of Cx26 accelerates hearing impairment progression in Gjb2+/- mice.
Connexin-26 (CX26) associates with components of other membrane junctions that integrate with the cytoskeleton.
Excessive accumulation of connexin 26 protein in intracellular domains promotes squamous cell carcinoma progression.
the reduction in microtubules in pillar cells might be responsible for the failure of the tunnel of Corti to open, and the malformed phalangeal processes might negatively affect the supporting framework of the organ of Corti, which would be a new mechanism of Gjb2-related hearing loss.
Cochlea in Cx26(+/-)/Cx30(+/-) mice displayed normal development and had no apparent hair cell degeneration. Double heterozygous deletion of Cx26 and Cx30 in the epithelial cells did not reduce endocochlear potential and had normal hearing, suggesting that Cx26(+/-)/Cx30(+/-) may mainly impair gap junctional functions in the cochlear lateral wall and lead to EP reduction and hearing loss.
Our study demonstrated that the homozygousp.V37I variant in GJB2 gene knock-in mouse modeled the hearing phenotype of the human patients and can serve as a useful animal model for further studies
we observed that deletion of CX26 in excitatory neurons around birth significantly reduces the frequency and size of network oscillations and subsequently the frequency of mEPSCs of neocortical excitatory neurons.
Cx26 contributes to epidermal homeostasis by regulating keratinocyte differentiation; mice harboring a disease-linked Cx26 mutant display epidermal abnormalities yet retain most wound healing properties.
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.
clock genes exist in the mouse bladder mucosa and regulate exact circadian gene expression in mice
In connexin knock-outs, Cx26 and Cx30, 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-27a was identified as an apoptotic molecule that participates in Cx26 knockout-induced apoptosis in the cochlear sensory epithelium of mice by downregulating sgk1 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 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 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+)-regulated hemi-channel activities.
This report contributes to the short list of GJB2 variants associated with autosomal dominant hearing loss, highlights the variability of skin and nail findings associated with such cases, and illustrates the occurrence of both syndromic and nonsyndromic presentations with changes in the same gene.
16 were heterozygote for the 35delG mutation; 14 including three 35delG heterozygote's, had 9 different alterations in the GJB2 gene.1 variant, p.Ser199Glnfs*9, detected in 2 participants, was previously unreported. 3 variants were pathogenic (p.Trp172*, p.Val167Met, p.Arg75Trp), 2 were non-pathogenic (p.Val27Ile and p.Ile196Thr), and 3 variants were indeterminate (p.Met34Thr, p.Arg127Leu, and p.Lys168Arg).
GJB2 gene was revealed in the first locus of recessive Hearing Loss. Recessive mutations in this gene cause the Congenital Bilateral Sensorineural Hearing Loss.
The genetic cause of hearing loss was revealed in 58% of the patients assessed for the presence of GJB2 gene mutations in children of the first year of life in the Russian Federation.
This study identified novel calcium biding sites in CX26: ASP2, ASP117, ASP159, GLU114, GLU119, GLU120 and VAL226. This study presents a first step on finding associations between molecular features and pathological variants of the CX26 hemichannel.
Study data revealed a negative association of GJB2 protein with the estrogen receptor status of breast tumor tissues. Furthermore, GJB2 was found to be involved in the growth of breast tumors.
This study identified mutations in GJB2 gene in 40% of 15 probands with pre-lingual non-syndromic hearing loss.
In triple negative breast cancer, connexin 26 (Cx26) is elevated in self-renewing cancer stem cells (CSCs) and is necessary and sufficient for their maintenance. Cx26 promotes CSC self-renewal by forming a signaling complex with the pluripotency transcription factor NANOG and focal adhesion kinase (FAK), resulting in NANOG stabilization and FAK activation.
The LB2003 cells, devoid of three key K(+) uptake transport mechanisms, cannot grow in low-[K(+)] medium, but expression of Cx26, Cx43, or Cx46 rescues their growth defect (growth complementation
children with GJB2 gene mutations have phenotypic variability in terms of their results of UNHS and their degree and symmetry of hearing loss. Subjects with T/NT mutations of the GJB2 gene were more likely to pass UNHS and had milder hearing loss compared to those with T/T mutations.
Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G.
It was shown that thiol levels increased and disulphide levels decreased in patients with autosomal recessive non-syndromic hearing loss and GJB2 gene mutations.
The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China
In conclusion, a novel missense mutation in GJB2 (DFNA3), affecting the second extracellular domain of the protein, was identified in a family with autosomal dominant non-syndromic hearing loss.
our present results indicate an association between GJB2 polymorphisms (rs2274084) and NPC susceptibility. The TT genotype of GJB2 may be a risk factor for NPC.
Mutation in GJB2 gene is associated with deafness.
The p.Lys22Asn GJB2 mutation causes a dominant form of hearing loss associated with variable expression of palmoplantar keratoderma, representing a model of full penetrance, with an age-dependent effect on the phenotype
These data suggest that chronic exposure to glucose-evoked TGFbeta1 induce an increase in CX26 and CX43 expression, consistent with changes observed in tubular epithelia from patients with diabetic nephropathy.
Bi-allelic variations in the GJB2 gene cause up to 50% of cases of newborn hearing loss.
GJB2 mutation is associated with hearing loss.
intermediate invasive status of bovine trophoblast is supported by the fact that trophoblast giant cells coexpress connexins (Cx)26, Cx32, and Cx43
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