Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.G38D
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GJA5

NM_181703.4:p.G38D

Associated Papers

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

van Wijk SW et al.

Cells, 2022

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

Regulation of gap junction intercellular communication by connexin ubiquitination: physiological and pathophysiological implications.

Totland MZ et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

Noureldin M et al.

International Journal of Molecular Sciences, 2018

Altered conductance and permeability of Cx40 mutations associated with atrial fibrillation.

Santa Cruz A et al.

The Journal of General Physiology, 2015

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Diseases associated with leaky hemichannels.

Retamal MA et al.

Frontiers in Cellular Neuroscience, 2015

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated.

Gemel J et al.

Journal of Molecular and Cellular Cardiology, 2014

An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.

Sun Y et al.

Disease Models & Mechanisms, 2014

Atrial fibrillation-associated connexin40 mutants make hemichannels and synergistically form gap junction channels with novel properties.

Patel D et al.

Febs Letters, 2014

Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.

Bai D

Febs Letters, 2014

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.

Sun Y et al.

Plos One, 2014

Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.

Shi HF et al.

Molecular Medicine Reports, 2013

Cardiac connexins, mutations and arrhythmias.

Delmar M et al.

Current Opinion in Cardiology, 2012

Novel connexin40 missense mutations in patients with familial atrial fibrillation.

Yang YQ et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010

Connexin-caused genetic diseases and corresponding mouse models.

Dobrowolski R et al.

Antioxidants & Redox Signaling, 2009

Atrial fibrillation: evidence for genetically determined disease.

Andalib A et al.

Current Opinion in Cardiology, 2008

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.

Gollob MH et al.

The New England Journal of Medicine, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."