Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.
Noureldin M et al.
International Journal of Molecular Sciences, 2018
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-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
Bai D
Febs Letters, 2014
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.
Sun Y et al.
Human Mutation, 2013
Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.
Shi HF et al.
Molecular Medicine Reports, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Cardiac connexins, mutations and arrhythmias.
Delmar M et al.
Current Opinion in Cardiology, 2012
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
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
Genetic screening of the canine connexin 40 gene in dogs with inherited cardiac conduction defects.
Lee SA et al.
Biochemical Genetics, 2008
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Gollob MH et al.
The New England Journal of Medicine, 2006