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
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
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 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
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.
Da'as SI et al.
Journal of Cellular Biochemistry, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Human Genetics of Cardiac Arrhythmias.
Schulze-Bahr E et al.
Advances in Experimental Medicine and Biology, 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
Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy.
Wren LM et al.
Circulation. Arrhythmia and Electrophysiology, 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
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
Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.
Liu Z et al.
Seminars in Perinatology, 2023
Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Gao J et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Calmodulin mutations affecting Gly114 impair binding to the NaV1.5 IQ-domain.
Brohus M et al.
Frontiers in Pharmacology, 2023
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
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation.
Ledford HA et al.
The Journal of General Physiology, 2020
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims.
Clemens DJ et al.
Circulation. Genomic and Precision Medicine, 2020
Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.
Nakao S et al.
European Cardiology, 2020
Allele-specific genome targeting in the development of precision medicine.
Wu J et al.
Theranostics, 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
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L et al.
European Heart 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
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Concise Review: The Current State of Human In Vitro Cardiac Disease Modeling: A Focus on Gene Editing and Tissue Engineering.
Hoes MF et al.
Stem Cells Translational Medicine, 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
Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.
Garg P et al.
Circulation Research, 2018
Catecholaminergic polymorphic ventricular tachycardia, an update.
Pérez-Riera AR et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 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
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez J et al.
Revista Espanola De Cardiologia (english Ed.), 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
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
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
Anderson JH et al.
Circulation. Cardiovascular Genetics, 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
Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.
Lahrouchi N et al.
Frontiers in Cardiovascular Medicine, 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