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
Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.
Marcoux E et al.
Circulation. Arrhythmia and Electrophysiology, 2023
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
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 2022
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 2022
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Touat-Hamici Z et al.
Scientific Reports, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.
Noureldin M et al.
International Journal of Molecular Sciences, 2018
Differential Association of Cx37 and Cx40 Genetic Variants in Atrial Fibrillation with and without Underlying Structural Heart Disease.
Carballo S et al.
International Journal of Molecular Sciences, 2018
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Association of connexin gene polymorphism with essential hypertension in Kazak and Han Chinese in Xinjiang, China.
Wang LJ et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2017
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
Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men.
Schmidt K et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2015
Connexin40 abnormalities and atrial fibrillation in the human heart.
Gemel J et al.
Journal of Molecular and Cellular Cardiology, 2014
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 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: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Olesen MS et al.
Heart Rhythm, 2014
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
The Connexin40A96S mutation from a patient with atrial fibrillation causes decreased atrial conduction velocities and sustained episodes of induced atrial fibrillation in mice.
Lübkemeier I et al.
Journal of Molecular and Cellular Cardiology, 2013
Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.
Shi HF et al.
Molecular Medicine Reports, 2013
Rare variants in GJA5 are associated with early-onset lone atrial fibrillation.
Christophersen IE et al.
The Canadian Journal of Cardiology, 2013
A common connexion between gap junctions, single nucleotide polymorphisms, and atrial fibrillation?
Lubitz SA et al.
The Canadian Journal of Cardiology, 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
The connexin 40 A96S mutation causes renin-dependent hypertension.
Lübkemeier I et al.
Journal of the American Society of Nephrology : Jasn, 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