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Gap junction protein, alpha 8, 50kDa

CAE, Cx50, connexin50, GJA8
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: GAP, CAN, ACID, HAD, AGE
Papers on CAE
Methanol extracts from Cystoseira tamariscifolia and Cystoseira nodicaulis are able to inhibit cholinesterases and protect a human dopaminergic cell line from hydrogen peroxide-induced cytotoxicity.
Varela et al., Faro, Portugal. In Pharm Biol, Feb 2016
Cystoseira tamariscifolia had the highest content of all the groups of phenolics, and was particularly enriched in hydroxycinnamic acids (106 mg CAE/g DW). Discussion and conclusion Results indicate that C. tamariscifolia and C. nodicaulis are important sources of nutraceutical compounds and may be considered functional foods that could improve cognitive functions.
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing.
Jamieson et al., Sydney, Australia. In Hum Mutat, Jan 2016
Variants were found in the crystallin and gap junction genes, including the first report of severe microphthalmia and sclerocornea associated with a novel GJA8 mutation.
Gamma glutamyltransferase, inflammation and cardiovascular risk factors in isolated coronary artery ectasia.
Erdogan et al., Isparta, Turkey. In Rev Port Cardiol, Jan 2016
INTRODUCTION AND OBJECTIVE: There are conflicting data on the prevalence of cardiovascular risk factors in coronary artery ectasia (CAE).
Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.
Zhao et al., Beijing, China. In Sci Rep, Dec 2015
Mutation analysis was performed by direct sequencing of the following candidate genes: CRYGC, CRYGD, CRYGS, GJA8, GJA3 and CRYAA.
Alkyl 2-arylhydrazinylidene-3-oxo-3-polyfluoroalkylpropionates as new effective and selective inhibitors of carboxylesterase.
Chupakhin et al., Moscow, Russia. In Dokl Biochem Biophys, Nov 2015
A series of alkyl 2-Arylhydrazinylidene-3-oxo-3-polyfluoroalkylpropionates was synthesized and their inhibitory activity with respect to porcine liver carboxylesterase (CaE, EC,
Coronary artery ectasia in atherosclerotic coronary artery disease, inflammatory disorders, and sickle cell disease.
Dahhan, Iowa City, United States. In Cardiovasc Ther, Apr 2015
Coronary artery ectasia (CAE) or aneurysm is usually defined as dilation ≥1.5-fold the normal vessel diameter.
Roles and regulation of lens epithelial cell connexins.
Beyer et al., Chicago, United States. In Febs Lett, 2014
Lens epithelial cells express the gap junction proteins, connexin43 (Cx43) and connexin50 (Cx50).
Connexin hemichannels in the lens.
Berthoud et al., Chicago, United States. In Front Physiol, 2013
The normal function and survival of cells in the avascular lens is facilitated by intercellular communication through an extensive network of gap junctions formed predominantly by three connexins (Cx43, Cx46, and Cx50).
Functional roles of the amino terminal domain in determining biophysical properties of Cx50 gap junction channels.
Bai et al., London, Canada. In Front Physiol, 2012
This article reviews recent studies conducted on a series of mutations/chimeras in the NT domain of connexin50 (Cx50).
Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance.
Bai et al., London, Canada. In Biophys J, 2012
D3 residue plays an essential role in unitary conductance of Cx50 gap junction channels
Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels.
Paul et al., Boston, United States. In Mol Biol Cell, 2011
Normal Cx50 function requires an intact PDZ domain-binding motif.
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Dada et al., New Delhi, India. In Mol Vis, 2010
Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed.
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
Zhang et al., Guangzhou, China. In Mol Vis, 2010
Mutations in GJA8 and CRYAA were identified in three Chinese families with cataract and microcornea.
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
Lu et al., Shanghai, China. In Mol Vis, 2010
A missense D47N mutation in GJA8 is associated with autosomal dominant congenital cataract in a Chinese family.
Lens gap junctions in growth, differentiation, and homeostasis.
Gong et al., Stony Brook, United States. In Physiol Rev, 2010
The lens is no exception, as it expresses three isoforms: Cx43, Cx46, and Cx50.
Epigenetic silencing of cyclooxygenase-2 affects clinical outcome in gastric cancer.
Hoon et al., Santa Monica, United States. In J Clin Oncol, 2007
MATERIALS AND METHODS: COX-2 methylation status was initially assessed by capillary array electrophoresis methylation-specific polymerase chain reaction (CAE-MSP) and COX-2 protein expression by immunohistochemistry (IHC) in 40 primary gastric cancer tissues in a pilot study.
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Heils et al., Bonn, Germany. In Nat Genet, 2003
Here we report a gene associated with the four most common IGE subtypes: childhood and juvenile absence epilepsy (CAE and JAE), juvenile myoclonic epilepsy (JME), and epilepsy with grand mal seizures on awakening (EGMA; ref. 8).
Unique and redundant connexin contributions to lens development.
White, Stony Brook, United States. In Science, 2002
intrinsic properties of Cx50 are required for cellular growth of lens cells
Combinatorial fluorescence energy transfer tags for multiplex biological assays.
Ju et al., New York City, United States. In Nat Biotechnol, 2001
We constructed eight CFET tags with unique fluorescence signatures, detected by a three-color capillary array electrophoresis (CAE) system with 488 nm excitation, using only three fluorescent dyes.
GABRB3, Epilepsy, and Neurodevelopment
Olsen et al., Bethesda, United States. In Unknown Journal, 0001
In human, three different point mutations in exon 1A, coding the signal peptide and exon 2 of GABRB3, segregate with childhood absence epilepsy (CAE), and result in decreased neuronal GABA currents, Three neurological disorders, Rett syndrome, (a deficiency of MeCP2), Angelman syndrome, and autism, each exhibit reduced expression of GABRB3 and UBE3A, along with mental retardation and epilepsy.
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