Associated Papers
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
Arrhythmia-associated calmodulin variants interact with KCNQ1 to confer aberrant membrane trafficking and function.
Kang PW et al.
Pnas Nexus, 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
Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.
Thanassoulas A et al.
Biochimica Et Biophysica Acta. General Subjects, 2023
Impact of arrhythmogenic calmodulin variants on small conductance Ca2+ -activated K+ (SK3) channels.
Saljic A et al.
Physiological Reports, 2019
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L et al.
European Heart Journal, 2019
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
28491681 (PubMed )
Supplement: mmc2.docx
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N et al.
Circulation. Cardiovascular Genetics, 2014
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