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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Gap junction protein, alpha 5, 40kDa

Cx40, connexin40
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: GAP, Connexin 43, Cx45, Cx37, CAN
Papers on Cx40
TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Tian et al., Shanghai, China. In Cardiovasc Res, Feb 2016
These mutations increased the expression of atrial natriuretic peptide (ANP) and connexin-40 (CX40) in the primarily cultured rat atrial myocytes, but did not alter the expression of cardiac structural genes, atrial myosin heavy chain-α (MHC-α) and myosin light chain-2α (MLC-2α).
Engineered Cx40 variants increased docking and function of heterotypic Cx40/Cx43 gap junction channels.
Bai et al., London, Canada. In J Mol Cell Cardiol, Jan 2016
Both connexin40 (Cx40) and Cx43 are abundantly expressed in and frequently co-localized between atrial myocytes, possibly forming heterotypic GJ channels.
Involvement of Connexin40 in the Protective Effects of Ginsenoside Rb1 Against Traumatic Brain Injury.
Tong et al., Shanghai, China. In Cell Mol Neurobiol, Jan 2016
We discovered that TBI-induced brain injury and up-regulation of connexin40 (Cx40) protein expression as early as 6 h post-TBI, which was reversed by administration of GS-Rb1.
Altered conductance and permeability of Cx40 mutations associated with atrial fibrillation.
Valiunas et al., Stony Brook, United States. In J Gen Physiol, Nov 2015
Three mutant forms of connexin40 (Cx40; A96S, M163V, and G38D), the primary component of the atrial gap junction channel, are associated with atrial fibrillation and retain the ability to form functional channels.
Gap junction connexins in female reproductive organs: implications for women's reproductive health.
Kidder et al., London, Canada. In Hum Reprod Update, May 2015
CX40, which characterizes the extravillous trophoblast (EVT), supports proliferation of the proximal EVTs while preventing them from differentiating into the invasive pathway.
Connexins, renin cell displacement and hypertension.
Kurtz, Regensburg, Germany. In Curr Opin Pharmacol, Apr 2015
This review outlines that defects of the connexin 40 protein leads to hypertension because of dysfunction of renin secreting cells of the kidney.
O-GlcNAcylation Negatively Regulates Cardiomyogenic Fate in Adult Mouse Cardiac Mesenchymal Stromal Cells.
Jones et al., Louisville, United States. In Plos One, 2014
Exposure of these cells to routine differentiation protocols in culture increased markers of the cardiomyogenic lineage such as Nkx2.5 and connexin 40, and augmented the abundance of transcripts associated with endothelial and fibroblast cell fates.
A study of the association between the connexin 40 rs35594137 polymorphism and atrial fibrillation in Xinjiang Chinese Han and Uygur populations.
Hou et al., Ürümqi, China. In Genet Mol Res, 2014
Atrial fibrillation (AF) occurrence has a known genetic component.
Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
Bai, London, Canada. In Febs Lett, 2014
Sporadic somatic mutations in GJA5 (encoding Cx40) have been identified in lone atrial fibrillation (AF) patients.
Astrocyte pathology in major depressive disorder: insights from human postmortem brain tissue.
Stockmeier et al., Jackson, United States. In Curr Drug Targets, 2013
This review summarizes evidence from human postmortem tissue showing alterations in the expression of protein and mRNA for astrocyte markers such as glial fibrillary acidic protein (GFAP), gap junction proteins (connexin 40 and 43), the water channel aquaporin-4 (AQP4), a calcium-binding protein S100B and glutamatergic markers including the excitatory amino acid transporters 1 and 2 (EAAT1, EAAT2) and glutamine synthetase.
Gating of connexin 43 gap junctions by a cytoplasmic loop calmodulin binding domain.
Veenstra et al., Syracuse, United States. In Am J Physiol Cell Physiol, 2012
This is the first evidence of intrinsic differences in the Ca2+ regulatory properties of Cx43 and Cx40.
Lack of association between connexin40 polymorphisms and coronary artery disease.
Kwak et al., Genève, Switzerland. In Atherosclerosis, 2012
our study could not detect an association of Cx40 promoter polymorphisms and CAD in human
Cardiac connexins, mutations and arrhythmias.
Makita et al., New York City, United States. In Curr Opin Cardiol, 2012
RECENT FINDINGS: Recent studies have reported an association between nucleotide substitutions in the connexin40 (Cx40) and connexin43 (Cx43) genes (GJA5 and GJA1, respectively) and cardiac arrhythmias.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Keavney et al., Newcastle upon Tyne, United Kingdom. In Hum Mol Genet, 2012
Results implicate GJA5 as the gene responsible for the congenital heart disease phenotypes observed with copy number imbalances at this locus.
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
Delmar et al., Nagasaki, Japan. In Circ Arrhythm Electrophysiol, 2012
Heteromeric cotransfection of Cx40-WT and Cx40-Q58L resulted in homogenous distribution of proteins in the plasma membrane rather than in membrane plaques in approximately 50% of cells; well-defined gap junctions were observed in other cells.
Regulation of endothelial connexin40 expression by shear stress.
Zakrzewicz et al., Berlin, Germany. In Am J Physiol Heart Circ Physiol, 2012
Regulation of endothelial connexin40 expression by shear stress via PI3K/Akt pathway.
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
Mahadevan et al., Charlottesville, United States. In Nat Genet, 2008
Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43.
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Bai et al., Ottawa, Canada. In N Engl J Med, 2006
Four novel heterozygous missense mutations were identified in 4 of the 15 patients. Mutations in GJA5 may predispose patients to idiopathic atrial fibrillation by impairing gap-junction assembly or electrical coupling.
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.
Seidman et al., Boston, United States. In Cell, 2001
Surprisingly, Tbx5 haploinsufficiency also markedly decreased atrial natriuretic factor (ANF) and connexin 40 (cx40) transcription, implicating these as Tbx5 target genes and providing a mechanism by which 50% reduction of T-box transcription factors cause disease.
A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.
Fishman et al., Boston, United States. In Nat Genet, 1994
Based on the disease phenotype and map location we speculate that gap junction protein connexin 40 is a candidate for mutations that result in conduction system disease and dilated cardiomyopathy.
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