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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Oct 2014.

Gap junction protein, beta 2, 26kDa

Cx26, connexin 26, GJB2, KID, HID
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. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: GAP, CAN, HAD, GJB6, PGD2
Papers using Cx26 antibodies
Cyclic stretch enhances gap junctional communication between osteoblastic cells
Supplier
van Steensel Maurice A M et al., In The Journal of Investigative Dermatology, 1997
... GJB2 WT gene was cloned into the vectors peGFP-N1 (BD Biosciences, Breda, The Netherlands) and ...
Papers on Cx26
Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss.
New
Srikumari Srisailapathy et al., Chennai, India. In Ann Hum Genet, May 2014
Sequencing of the coding exon of GJB2 nuclear gene did not show any pathogenic mutations.
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.
New
Ou et al., Fuzhou, China. In Ann Hum Genet, May 2014
Mutations in the GJB2 gene, encoding connexin26, which is expressed in the inner ear, have been shown to be responsible for the majority of nonsyndromic hearing loss (NSHL) cases.
The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes.
New
Yang et al., Shanghai, China. In Clin Genet, Apr 2014
UNLABELLED: The homozygous p.V37I variant of GJB2 is frequent in East Asians and has been reported to have a pathogenic role in mild-to-moderate hearing impairment.
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.
New
Martines et al., Palermo, Italy. In Eur Arch Otorhinolaryngol, Apr 2014
UNLABELLED: The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles.
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.
Review
New
Chang et al., San Francisco, United States. In Laryngoscope, Feb 2014
OBJECTIVES/HYPOTHESIS: To perform a systematic review of GJB2-associated hearing loss to describe genotype distributions and auditory phenotype.
Connexin and pannexin (hemi)channels in the liver.
Review
New
Vinken et al., Brussels, Belgium. In Front Physiol, Feb 2014
Hepatocytes harbor connexin32 and connexin26, while non-parenchymal liver cells typically express connexin43.
A large-scale screen for coding variants predisposing to psoriasis.
New
Impact
Zhang et al., Hefei, China. In Nat Genet, Jan 2014
We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance.
Divalent regulation and intersubunit interactions of human connexin26 (Cx26) hemichannels.
Review
New
Contreras et al., Newark, United States. In Channels (austin), Jan 2014
Here, we explore the differences between regulation by Ca(2+) and Mg(2+) of human connexin26 (hCx26) hemichannels and the role of a specific interaction in regulation by Ca (2+).
Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26.
New
Mammano et al., Padova, Italy. In Front Physiol, Dec 2013
Mutations of the GJB2 gene encoding the connexin 26 (Cx26) gap junction protein, which is widely expressed in the inner ear, are the primary cause of hereditary non-syndromic hearing loss in several populations.
Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications.
Review
New
Shinkai et al., San Francisco, United States. In J Am Acad Dermatol, Jul 2013
Keratitis, ichthyosis, and deafness (KID) syndrome is a rare genodermatosis associated with mutations in the connexin 26 gene.
Ribonucleases in bacterial toxin-antitoxin systems.
Review
New
Arcus et al., Dunedin, New Zealand. In Biochim Biophys Acta, Jun 2013
The MazF structural family includes MazF, Kid, ParE and CcdB toxins.
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
GeneRIF
van Steensel et al., Maastricht, Netherlands. In J Invest Dermatol, 2012
porokeratotic eccrine nevus may be caused by mosaic GJB2 mutations.
[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].
GeneRIF
Li et al., Suzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012
Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC.
Cochlear implantation and congenital deafness: perceptive and lexical results in 2 genetically pediatric identified population.
GeneRIF
Garabédian et al., Paris, France. In Otol Neurotol, 2012
After cochlear implantation, perceptive and linguistic evolutions for populations of GJB2 mutation and Waardenburg syndrome were of good quality, but lexical evaluation showed residual language difficulties in both groups.
Aberrant connexin 43 and 26 expression in cervical dysplasia.
GeneRIF
Zhang et al., Philadelphia, United States. In Anal Quant Cytol Histol, 2012
In High-grade squamous intraepithelial lesions, Cx26 was expressed in the full thickness of the epithelium, at a high level in 80% of cases and a low level in the rest.
The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
GeneRIF
Wu et al., Shanghai, China. In Plos One, 2011
p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal permanent childhood hearing impairment
Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
Impact
Zhang et al., Hefei, China. In Nat Genet, 2010
We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10⁻⁸) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10⁻²¹) in the European studies.
Structure of the connexin 26 gap junction channel at 3.5 A resolution.
Impact
GeneRIF
Tsukihara et al., Suita, Japan. In Nature, 2009
X ray structure of connexin 26 gap junction channel at 3.5 A resolution.
Temporal transcription factors and their targets schedule the end of neural proliferation in Drosophila.
Impact
Gould et al., London, United Kingdom. In Cell, 2008
Second, they regulate the time at which neuroblasts undergo Prospero-dependent cell-cycle exit or Reaper/Hid/Grim-dependent apoptosis.
Kid-mediated chromosome compaction ensures proper nuclear envelope formation.
Impact
GeneRIF
Yamamoto et al., Tokyo, Japan. In Cell, 2008
These data suggest that Kid-mediated anaphase/telophase chromosome compaction prevents formation of multinucleated cells.
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