Associated Papers
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Hoang HD et al.
Human Molecular Genetics, 2025
Disrupted binding dynamics of the CaMD130G mutant to Cav1.2 channels: Implications for long QT syndrome pathogenesis.
Zhang X et al.
European Journal of Pharmacology, 2025
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Beyond the blueprint: decoding calmodulinopathy-a case report showcasing the utility of multifaceted treatments.
Kakarla S et al.
European Heart Journal. Case Reports, 2025
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.
Li Q et al.
Reviews in Cardiovascular Medicine, 2025
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
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Jensen HH et al.
Human Molecular Genetics, 2023
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 2023
NaV1.2 EFL domain allosterically enhances Ca2+ binding to sites I and II of WT and pathogenic calmodulin mutants bound to the channel CTD.
Mahling R et al.
Structure (london, England : 1993), 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
An NGS-based genotyping in LQTS; minor genes are no longer minor.
Ohno S et al.
Journal of Human Genetics, 2020
Diminished inhibition and facilitated activation of RyR2-mediated Ca2+ release is a common defect of arrhythmogenic calmodulin mutations.
Søndergaard MT et al.
The Febs Journal, 2019
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy.
Fujita S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Genetic Mosaicism in Calmodulinopathy.
Wren LM et al.
Circulation. Genomic and Precision Medicine, 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
Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy.
Zahavich L et al.
Circulation. Genomic and Precision Medicine, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Human Calmodulin Mutations.
Jensen HH et al.
Frontiers in Molecular Neuroscience, 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
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 2017
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Yamamoto Y et al.
Human Molecular Genetics, 2017
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.
Limpitikul WB et al.
Circulation Research, 2017
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Gomez-Hurtado N et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.
Giudicessi JR et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek NJ et al.
Circulation. Cardiovascular Genetics, 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
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
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.
Yin G et al.
Journal of the American Heart Association, 2014
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
Marsman RF et al.
Journal of the American College of Cardiology, 2014
Calmodulin mutations associated with recurrent cardiac arrest in infants.
Crotti L et al.
Circulation, 2013
Calmodulinopathy in inherited arrhythmia syndromes.
Tsai WC et al.
Tzu Chi Medical Journal, 0