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
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
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
Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.
Noureldin M et al.
International Journal of Molecular Sciences, 2018
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 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
[Genetic predictors of sick sinus node syndrome].
Chernova AA et al.
Kardiologiia, 2013
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
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