Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Identifying the Transcriptome Signatures of Calcium Channel Blockers in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

(2019) Chi Keung Lam et al.   CIRCULATION RESEARCH

Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients

(2019) Haodi Wu et al.   EUROPEAN HEART JOURNAL

Human Induced Pluripotent Stem Cell–Derived Engineered Heart Tissue as a Sensitive Test System for QT Prolongation and Arrhythmic Triggers

(2018) Marc D. Lemoine et al.   Circulation-Arrhythmia and Electrophysiology

Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions

(2018) Anant Chopra et al.   DEVELOPMENTAL CELL

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy

(2018) Diogo Mosqueira et al.   EUROPEAN HEART JOURNAL

Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes—a systematic review

(2018) Thomas Eschenhagen et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Differentiation of cardiomyocytes and generation of human engineered heart tissue

(2017) Kaja Breckwoldt et al.   Nature Protocols

Cardiac T-Tubule Microanatomy and Function

(2017) TingTing Hong et al.   PHYSIOLOGICAL REVIEWS

Nebivolol Desensitizes Myofilaments of a Hypertrophic Cardiomyopathy Mouse Model

(2017) Sabrina Stücker et al.   Frontiers in Physiology

Evaluation of MYBPC3 trans -Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes

(2017) Maksymilian Prondzynski et al.   Molecular Therapy-Nucleic Acids

Human iPSC-derived cardiomyocytes cultured in 3D engineered heart tissue show physiological upstroke velocity and sodium current density

(2017) Marc D. Lemoine et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation

(2016) N. J. Haywood et al.   BIOCHEMICAL JOURNAL

The L-type Ca2+ channel: A mediator of hypertrophic cardiomyopathy

(2016) Helena M. Viola et al.   Channels

Peptidomimetic Targeting of Cavβ2 Overcomes Dysregulation of the L-Type Calcium Channel Density and Recovers Cardiac FunctionClinical Perspective

(2016) Francesca Rusconi et al.   CIRCULATION

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

The sarcomeric cytoskeleton: from molecules to motion

(2016) Mathias Gautel et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

(2016) Paul J.M. Wijnker et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

deepTools2: a next generation web server for deep-sequencing data analysis

(2016) Fidel Ramírez et al.   NUCLEIC ACIDS RESEARCH

Myoscape controls cardiac calcium cycling and contractility via regulation of L-type calcium channel surface expression

(2016) Matthias Eden et al.   Nature Communications

Which QT Correction Formulae to Use for QT Monitoring?

(2016) Bert Vandenberk et al.   Journal of the American Heart Association

Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Orα-Tropomyosin Mutation for Hypertrophic Cardiomyopathy

(2016) Marisa Ojala et al.   Stem Cells International

Ca2+-Currents in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Effects of Two Different Culture Conditions

(2016) Ahmet U. Uzun et al.   Frontiers in Pharmacology

Epigallocatechin-3-Gallate Accelerates Relaxation and Ca2+ Transient Decay and Desensitizes Myofilaments in Healthy and Mybpc3-Targeted Knock-in Cardiomyopathic Mice

(2016) Felix W. Friedrich et al.   Frontiers in Physiology

Human Engineered Heart Tissue: Analysis of Contractile Force

(2016) Ingra Mannhardt et al.   Stem Cell Reports

Targets for therapy in sarcomeric cardiomyopathies

(2015) J. C. Tardiff et al.   CARDIOVASCULAR RESEARCH

Implementation of Contraction to Electrophysiological Ventricular Myocyte Models, and Their Quantitative Characterization via Post-Extrasystolic Potentiation

(2015) Yanyan Claire Ji et al.   PLoS One

Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers

(2015) Carolyn Y. Ho et al.   JACC-Heart Failure

Automated analysis of contractile force and Ca2+ transients in engineered heart tissue

(2014) Andrea Stoehr et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

(2014) Richard D Bagnall et al.   BMC Medical Genetics

Novel  -Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias: A Massively Parallel Sequencing Study

(2014) F. Girolami et al.   Circulation-Cardiovascular Genetics

Serum supplemented culture medium masks hypertrophic phenotypes in human pluripotent stem cell derived cardiomyocytes

(2014) Cheryl Dambrot et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Endothelin‐1 Induces Myofibrillar Disarray and Contractile Vector Variability in Hypertrophic Cardiomyopathy–Induced Pluripotent Stem Cell–Derived Cardiomyocytes

(2014) Atsushi Tanaka et al.   Journal of the American Heart Association

The new antiarrhythmic drug vernakalant: ex vivo study of human atrial tissue from sinus rhythm and chronic atrial fibrillation

(2013) Erich Wettwer et al.   CARDIOVASCULAR RESEARCH

Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells

(2013) Feng Lan et al.   Cell Stem Cell

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Competition between α-actinin and Ca2+-Calmodulin Controls Surface Retention of the L-type Ca2+ Channel CaV1.2

(2013) Duane D. Hall et al.   NEURON

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice

(2012) Bodvaël Fraysse et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Prevalence and clinical correlates of QT prolongation in patients with hypertrophic cardiomyopathy

(2011) J. N. Johnson et al.   EUROPEAN HEART JOURNAL

Hypertrophic Cardiomyopathy

(2010) Carolyn Y. Ho   Heart Failure Clinics

Protein kinase C α and ε phosphorylation of troponin and myosin binding protein C reduce Ca2+ sensitivity in human myocardium

(2009) Viola Kooij et al.   BASIC RESEARCH IN CARDIOLOGY

AHA/ACCF/HRS Recommendations for the Standardization and Interpretation of the Electrocardiogram

(2009) Pentti M. Rautaharju et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY