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anti-Mouse (Murine) GJB6 Antikörper:
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Human Polyclonal GJB6 Primary Antibody für IHC (p), ELISA - ABIN544549
Common, Becker, Di, Leigh, OToole, Kelsell: Functional studies of human skin disease- and deafness-associated connexin 30 mutations. in Biochemical and biophysical research communications 2002
Show all 3 Pubmed References
Cow (Bovine) Polyclonal GJB6 Primary Antibody für ELISA - ABIN4300003
Belguith, Tlili, Dhouib, Ben Rebeh, Lahmar, Charfeddine, Driss, Ghorbel, Ayadi, Masmoudi: Mutation in gap and tight junctions in patients with non-syndromic hearing loss. in Biochemical and biophysical research communications 2009
Data show that the passive compliance of the cochlear partition and active frequency tuning of the basilar membrane are enhanced in the cochleae of CD-1onnexin-30 (Cx30)(A88V/A88V) compared to CBA/J mice with sensitive high-frequency hearing.
Results demonstrate that Cx43, but not Cx30, is crucial for adult neurogenesis in the hippocampus.
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.
connexin 30 controls astroglial polarity during development
In Cx30 and Cx26 knock-out animals, inner hair cells remained stuck at a prehearing stage of development.
Connexin 30, but not connexin 43, hemichannels close upon protein kinase C activation, illustrating that connexin hemichannels display not only isoform-specific permeability profiles but also isoform-specific regulation by protein kinase C.
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
four unique Cx30 mutants might cause disease through different mechanisms that also likely include their selective trans-dominant effects on coexpressed connexins.
The cortex modafinil injection increases the expression of mRNA and protein of connexin 30.
The Cx30A88V mutation triggers hyperproliferation in the skin and changes the cochlear homeostasis in mice.
Connexin30 is expressed at significantly higher levels in the buccal mucosa than the epidermis and, unlike in skin, it is rapidly down-regulated at the wound edge within 6 hours of wounding. This may underlie the rapid healing of the buccal mucosa.
Our data reveal that Cx43 promotes the survival of newborn neurons in the adult mouse hippocampus whereas Cx30 restricts their survival.
The observations demonstrate a role for Cx30 and intercellular communication in regulating repair responses in an epithelial tissue.
We showed co-expression of Cx30 and p63 in developing mouse hair follicles and nail units.
in the Cx30 knock-out mouse model, defective Cx26 expression is the likely cause of deafness, and in contrast to current opinion, Cx30 is dispensable for cochlear functions
These results demonstrate that astroglial connexins are necessary to maintain BBB integrity.
This study demonistrated that Cx30/Cx47 double-deficient mice has the functional role of both connexins for interastrocytic, interoligodendrocytic, and panglial coupling, and show that both connexins are required for maintenance of myelin.
Loss of Cx30 and the white matter pathology observed does not affect expression of experimental autoimmune encephalitis; astrocyte gap junctions do not regulate autoimmune inflammation.
This study suggested that cx30 defiency affect expression levels of glial glutamate transporters within the cerebrum.
Data show that absence of connexin30 in knockout mice changes the expression patterns of connexin26 and connexin32 in glial cells and leptomeninges.
results showed the A88V and G11R mutants of GJB6 may activate the downstream execution factor, caspase-3, through the extrinsic apoptotic pathway mediated by caspase-8 and the intrinsic apoptotic pathway mediated by caspase-9; study provides further clarification on mechanisms underlying the effect of mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis
Investigation of stemness-related CD133 and cMyc in human samples and rat xenografts exhibited a reciprocal relationship between Cx30 and IGF-1R in the low and high grades (HG) of glioma. Cx30 was completely abolished in HG; levels of IGF-1R, CD133 and cMyc expression were positively correlated with HG. Cx30 transfection could attenuate the malignant burden of glioma in rat xenografts.
Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness.
data reveals that a recurrent mutation p.A88V in GJB6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder
Cx26 and Cx30 proteins thus seem not to be co-expressed but to form closely associated assemblies of gap junction plaques.
del(GJB6-D13S1854) was highly prevalent in this sample of deaf Syrian families.
identification and functional characterization of a new Cx30 mutation in a family with hearing impairment in association with previously unreported skin anomalies
Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
Periostin is a robust marker of glioma malignancy and potential tumor recurrence. Abrogation of glioma stem cell tumorigenicity after periostin inhibition provides support for exploring the therapeutic impact of targeting periostin.
results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.
found that connexin 26 (Cx26) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 GJs remain persistently immobile for more than 2 min after bleaching
GJB6 deletions were not detected.
An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India.
Results show high mRNA and protein levels for Cx43 and Cx30 in breast cancer but they are correlated with improved and bad outcome respectively suggesting that they may serve as prognostic markers in breast cancer.
Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans
study found A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for hidrotic ectodermal dysplasia in Chinese population
A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized.
Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa. there is no sufficient evidence to support their testing in a clinical setting for individuals of African ancestry.
We found a great variety of mutations depending on the analyzed region in patients with SNHL; 57.86% of patients had affection in one or two alleles in GJB2 or GJB6 genes whereas 42.14% were wild-type. In some cases, allele distribution depended on region
In a cohort of Slovakian cochlear implant users, GJB6 deletion delD13S1830 was identified in only one subject of 131, in double heterozygosity with a GJB6 mutation.
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia.
, connexin 26
, gap junction beta-2 protein
, gap junction protein, beta 6, 30kDa
, gap junction beta-6 protein
, gap junction membrane channel protein beta 6
, gap junction protein, beta 6 (connexin 30)
, ectodermal dysplasia 2, hidrotic (Clouston syndrome)
, connexin 31