Associated Papers
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Hoang HD et al.
Human Molecular Genetics, 2025
Functional consequences of calmodulin variants identified among schizophrenia patients and controls.
Jensen HH et al.
Translational Psychiatry, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.
Tsai WC et al.
Jci Insight, 2025
miR-24-3p secreted as extracellular vesicle cargo by cardiomyocytes inhibits fibrosis in human cardiac microtissues.
Senesi G et al.
Cardiovascular Research, 2025
Antisense Oligonucleotide Therapy for Calmodulinopathy.
Bortolin RH et al.
Circulation, 2024
Role of Calmodulin in Cardiac Disease: Insights on Genotype and Phenotype.
Schwartz PJ et al.
Circulation. Genomic and Precision Medicine, 2024
Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1-, CALM2-, and CALM3-Mediated Arrhythmia Disorders.
Hamrick SK et al.
Circulation. Arrhythmia and Electrophysiology, 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
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
Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel.
McCormick L et al.
The Journal of Physiology, 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
Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.
Liu Z et al.
Seminars in Perinatology, 2023
Arrhythmia-associated Calmodulin Variants Interact with KCNQ1 to Confer Aberrant Membrane Trafficking and Function.
Kang PW et al.
Biorxiv : the Preprint Server for Biology, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 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
Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias.
Dal Cortivo G et al.
Cellular and Molecular Life Sciences : Cmls, 2022
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
NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis.
Ronchi C et al.
Cardiovascular Research, 2021
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Use of hiPSC-Derived Cardiomyocytes to Rule Out Proarrhythmic Effects of Drugs: The Case of Hydroxychloroquine in COVID-19.
Sala L et al.
Frontiers in Physiology, 2021
Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation.
Ledford HA et al.
The Journal of General Physiology, 2020
The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor.
Holt C et al.
The Journal of Biological Chemistry, 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 Associated with Heart Arrhythmia: A Status Report.
Chazin WJ et al.
International Journal of Molecular Sciences, 2020
Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.
Nakao S et al.
European Cardiology, 2020
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
Pourrier M et al.
International Journal of Molecular Sciences, 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
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
Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish.
Da'as SI et al.
Annals of the New York Academy of Sciences, 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
Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.
Garg P et al.
Circulation Research, 2018
Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model.
Mehta A et al.
European Heart Journal, 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
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies.
Crotti L et al.
International Journal of Cardiology, 2017
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
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Rocchetti M et al.
Cardiovascular Research, 2017
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
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.
Limpitikul WB et al.
Circulation Research, 2017