gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 16 Apr 2015.

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
Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-driven Candidate Gene Screening.
New
Choi et al., Seoul, South Korea. In Otol Neurotol, 01 May 2015
RESULTS: We detected causative variants in three (50%) of six families, and these variants were in the COCH, PAX3, and GJB2 genes.
pH Might Play a Role in Regulating the Function of Paired Amphipathic Helices Domains of Human Sin3B by Altering Structure and Thermodynamic Stability.
New
Singh et al., Delhi, India. In Biochemistry (mosc), 30 Apr 2015
It consists of six conserved domains that include four paired amphipathic helices (PAH 1-4), histone deacetylase interaction domain (HID), and highly conserved region (HCR).
LCZ696 (Angiotensin-Neprilysin Inhibition): The New Kid on the Heart Failure Block?
New
Gallagher et al., New York City, United States. In J Pharm Pract, 30 Apr 2015
Angiotensin-converting enzyme inhibitors (ACEIs) have been the cornerstone in systolic heart failure (HF) regimens over the past 25 years.
[Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province].
New
Ma et al., Taiyuan, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 30 Apr 2015
As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%).
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
New
Geng et al., Xi'an, China. In Clin Exp Dermatol, 26 Apr 2015
We found a novel missense mutation, N14S, in GJB6 and the previously identified F191L mutation in GJB2 (Cx26) in a proband with CS in a Han Chinese pedigree; these mutations were not found in 200 ethnically matched nonconsanguineous Han Chinese controls.
Gap junction connexins in female reproductive organs: implications for women's reproductive health.
Review
New
Kidder et al., London, Canada. In Hum Reprod Update, 09 Mar 2015
Blocking of CX26 channels in the uterine epithelium disrupted implantation whereas loss or reduction of CX43 expression in the uterine stroma impaired decidualization and vascularization in mouse and human.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Review
New
Choi et al., Seoul, South Korea. In Korean J Audiol, Sep 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Temporal patterning of neuroblasts controls Notch-mediated cell survival through regulation of Hid or Reaper.
New
Impact
Desplan et al., East New York, United States. In Cell, Sep 2014
Within a single lineage, intermediate precursors initially do not divide and generate only one neuron; subsequently, precursors divide, but their Notch(ON) progeny systematically die through Reaper activity, whereas later, their Notch(OFF) progeny die through Hid activity.
[Personalized molecular medicine: new paradigms in the treatment of cochlear implant and cancer patients].
Review
New
Röcken et al., Tübingen, Germany. In Hno, Jul 2014
RESULTS: Personalized medicine based on molecular-genetic evaluation of functional proteins such as otoferlin, connexin 26 and KCNQ4 or the Usher gene is becoming increasingly important for the indication of CI in the context of infant deafness.
A large-scale screen for coding variants predisposing to psoriasis.
Impact
Zhang et al., Hefei, China. In Nat Genet, 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.
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Review
Verselis et al., United States. In Front Cell Neurosci, 2013
Mutation of the GJB2 gene, which encodes the connexin 26 (Cx26) gap junction (GJ) protein, is the most common cause of hereditary, sensorineural hearing loss.
Consanguinity and hereditary hearing loss in Qatar.
Review
Badii et al., Trieste, Italy. In Hum Hered, 2013
Among all HHL genes, GJB2, the major player worldwide, accounts for a minor proportion of cases and at least 3 additional genes have been found to be mutated in Qatari patients.
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.
share on facebooktweetadd +1mail to friends