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
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
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1
Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.
Noureldin M et al.
International Journal of Molecular Sciences, 2018
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
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
Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.
Shi HF et al.
Molecular Medicine Reports, 2013
Select a paper to view details