Associated Papers
Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.
Schneider L et al.
Journal of the American Heart Association, 2025
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.
Da'as SI et al.
Journal of Cellular Biochemistry, 2024
Calmodulin Mutations in Human Disease.
Hussey JW et al.
Channels (austin, Tex.), 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37066275 (PubMed )
Supplement: media-4.docx
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Impact of arrhythmogenic calmodulin variants on small conductance Ca2+ -activated K+ (SK3) channels.
Saljic A et al.
Physiological Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor.
Søndergaard MT et al.
The Journal of Biological Chemistry, 2017
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
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