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anti-Mouse (Murine) GJB6 Antikörper:
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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
In Cx30 and Cx26 (zeige GJB2 Antikörper) knock-out animals, inner hair cells remained stuck at a prehearing stage of development.
Connexin 30, but not connexin 43 (zeige GJA1 Antikörper), hemichannels close upon protein kinase C (zeige PKC Antikörper) activation, illustrating that connexin hemichannels display not only isoform-specific permeability profiles but also isoform-specific regulation by protein kinase C (zeige PKC Antikörper).
presence of Cx30 in the cochlea does not compensate for Cx26 (zeige GJB2 Antikörper) 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.
Our data reveal that Cx43 (zeige GJA1 Antikörper) 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 (zeige CKAP4 Antikörper) in developing mouse hair follicles and nail (zeige CD244 Antikörper) units.
in the Cx30 knock-out mouse model, defective Cx26 (zeige GJB2 Antikörper) 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 (zeige ALMS1 Antikörper) integrity.
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 (zeige GJB2 Antikörper) 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 (zeige POSTN Antikörper) is a robust marker of glioma malignancy and potential tumor recurrence. Abrogation of glioma stem cell tumorigenicity after periostin (zeige POSTN Antikörper) inhibition provides support for exploring the therapeutic impact of targeting periostin (zeige POSTN Antikörper).
results suggest that SNPs present in the GJB2 (zeige GJB2 Antikörper) and GJB6 genes may have an influence on ARNSHL in humans.
found that connexin 26 (Cx26 (zeige GJB2 Antikörper)) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 (zeige GJA1 Antikörper) GJs remain persistently immobile for more than 2 min after bleaching
GJB6 deletions were not detected.
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