Associated Papers
The first case of a Caucasian child with calmodulinopathy related to CALM2 N98S mutation.
Buratti G et al.
Cardiology in the Young, 2026
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Hoang HD et al.
Human Molecular Genetics, 2025
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Gene Therapy for Inherited Cardiac Arrhythmias.
Turkieltaub Paredes MR et al.
Journal of Cardiovascular Translational Research, 2025
Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.
Tsai WC et al.
Jci Insight, 2025
K+ currents in ventricular cardiomyocytes of p.N98S-calmodulin mutant mice.
Guo S et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Antisense Oligonucleotide Therapy for Calmodulinopathy.
Bortolin RH et al.
Circulation, 2024
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.
Da'as SI et al.
Journal of Cellular Biochemistry, 2024
Neurological consequences of human calmodulin mutations.
Jensen HH et al.
Neural Regeneration Research, 2024
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Calmodulin Mutations in Human Disease.
Hussey JW et al.
Channels (austin, Tex.), 2023
Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.
Fukuyama M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Crotti L et al.
European Heart Journal, 2023
Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy.
Wren LM et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Jensen HH et al.
Human Molecular Genetics, 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.
Medrxiv : the Preprint Server for Health Sciences, 2023
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Halvorsen M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
Maltret A et al.
European Heart Journal. Case Reports, 2021
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
Infanticide vs. inherited cardiac arrhythmias.
Brohus M 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, 2021
Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation.
Ledford HA et al.
The Journal of General Physiology, 2020
Complex Arrhythmia Syndrome in a Knock-In Mouse Model Carrier of the N98S Calm1 Mutation.
Tsai WC et al.
Circulation, 2020
Clinical and Genetic Findings in Children Presenting With Ventricular Fibrillation as the First Manifestation of Cardiovascular Disease.
Hylind RJ et al.
Journal of the American Heart Association, 2020
The LQT-associated calmodulin mutant E141G induces disturbed Ca2+-dependent binding and a flickering gating mode of the CaV1.2 channel.
Su J et al.
American Journal of Physiology. Cell Physiology, 2020
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L et al.
European Heart Journal, 2019
Assessing predictions on fitness effects of missense variants in calmodulin.
Zhang J et al.
Human Mutation, 2019
Cardiac Evaluation of Children With a Family History of Sudden Death.
Webster G et al.
Journal of the American College of Cardiology, 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
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.
Kotta MC et al.
Frontiers in Cardiovascular Medicine, 2018
Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes.
Badone B et al.
Frontiers in Cardiovascular Medicine, 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
The emerging role of calmodulin regulation of RyR2 in controlling heart rhythm, the progression of heart failure and the antiarrhythmic action of dantrolene.
Walweel K et al.
Clinical and Experimental Pharmacology & Physiology, 2017
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Jiménez-Jáimez J et al.
Plos One, 2016
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.
Vassilakopoulou V et al.
Biochimica Et Biophysica Acta, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
Limpitikul WB et al.
Journal of Molecular and Cellular Cardiology, 2014
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N et al.
Circulation. Cardiovascular Genetics, 2014
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
Hwang HS et al.
Circulation Research, 2014
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
Nyegaard M et al.
American Journal of Human Genetics, 2012
Calmodulinopathy in inherited arrhythmia syndromes.
Tsai WC et al.
Tzu Chi Medical Journal, 0