gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Aug 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
Genetics of Hearing Loss-Nonsyndromic.
New
Chang, Stanford, United States. In Otolaryngol Clin North Am, 11 Sep 2015
Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL.
CD1 Mouse Retina Is Shielded From Iron Overload Caused by a High Iron Diet.
New
Dunaief et al., Albany, United States. In Invest Ophthalmol Vis Sci, 01 Sep 2015
To determine whether a high iron diet (HID) could cause RPE iron accumulation, possibly contributing to RPE oxidative stress in AMD, we tested the effect of dietary iron on mouse RPE iron.
Insights into the role of connexins in mammary gland morphogenesis and function.
Review
New
Laird et al., London, Canada. In Reproduction, Jun 2015
These studies have revealed an important stage-specific role for Cx26 (GJA1) and Cx43 (GJB2), while Cx30 (GJB6) and Cx32 (Gjb1) can be eliminated without compromising the gland.
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Review
New
Usami et al., Matsumoto, Japan. In Ann Otol Rhinol Laryngol, May 2015
OBJECTIVE: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common genes causing deafness, are known to be ethnic specific.
Gap junction connexins in female reproductive organs: implications for women's reproductive health.
Review
New
Kidder et al., London, Canada. In Hum Reprod Update, May 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.
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
New
Choi et al., Seoul, South Korea. In J Transl Med, Dec 2014
METHODS: From September 2010 to October 2014, children with severe-to-profound sporadic or arSNHL without phenotypic markers, and their families, were tested for mutations in connexins GJB2, GJB6 and GJB3.
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Review
New
Zhao et al., Lexington, United States. In Front Cell Neurosci, Dec 2014
In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease.
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Review
New
Wonkam et al., Cape Town, South Africa. In Pan Afr Med J, Dec 2014
The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin.
Embedded systems for supporting computer accessibility.
New
Puliafito et al., Messina, Italy. In Stud Health Technol Inform, Dec 2014
The solution takes advantage of open source hardware and its core component consists of an affordable Linux embedded system: it grabs data coming from the assistive software, which runs on the user's personal device, then, after processing, it generates native keyboard and mouse HID commands for the target computing device controlled by the end user.
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
New
Petit et al., Bab Ezzouar, Algeria. In Orphanet J Rare Dis, Dec 2014
METHOD: After exclusion of GJB2 (the gene most frequently involved in non-syndromic deafness in Mediterranean countries), we performed whole-exome sequencing in one sibling.
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.
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.
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