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anti-Mouse (Murine) GJB2 Antikörper:
anti-Rat (Rattus) 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
Show all 4 Pubmed References
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
Show all 3 Pubmed References
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
Human Polyclonal GJB2 Primary Antibody für ELISA, WB - ABIN4300001
Moscato, Cabiati, Bianchi, Vaglini, Morales, Burchielli, Botta, Sabbatini, Falleni, Del Ry, Mattii: Connexin 26 Expression in Mammalian Cardiomyocytes. in Scientific reports 2018
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.
immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes.
KID syndrome associated mutation G12R impairs fast and slow gating in Cx26 hemichannels.
We found that GJB2 gene mutations frequently caused hearing loss in the Moravian-Silesian population, and their distribution was similar to that reported in other Caucasian European populations.
The p.Gly12Valfs*2 mutation was found in eight patients (7.8%) (six homozygous and two heterozygous) with an allele frequency of 6.8%. The p.Trp24* and p.Trp77Arg were absent in both Hearing loss patients and controls.
We have identified ID2 as a key factor of DCIS initiation and GJB2 and INHBA as aggressive factors during progression of ID2-mediated DCIS to IDC. ID2 is capable of promoting the cancer stem cell population in pre-malignant cells and leads to DCIS formation
GJB2 is the primary deafness-causing gene in deaf patients from Wenzhou, China; this is consistent with what is observed in most Chinese populations. However, the surprisingly high rate of the m.1555A > G mutation (17.00%) in patients from Wenzhou was significantly higher than in other populations in China.
heterozygous missense mutation c.175G>A, p.G59S detected in Chinese family with classic Vohwinkel syndrome
the compound heterozygous variants, p.Q80H and p.V37I, in the GJB2 gene are associated with autosomal recessive non-syndromic hearing loss in a Chinese family
Plymorphic D13S141, D13S175, D13S1853 flanking the GJB2 gene.
Frequency of GJB2 mutations was found to be 11.5% in the southern provinces studied which is significantly lower than that identified in Northern populations of Iran
GJB2 and SLC26A4 were the major genes involved with hearing loss in Shanghai area.
GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. Those electrophysiologically severe mutations in GJB2 reveal abnormalities in many organs in lethal KID syndrome. All patients with KID syndrome may have subtle abnormalities beyond the eyes, ears, and skin.
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.
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