Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Authors
Keywords
-
Journal
EMBO Molecular Medicine
Volume 11, Issue 12, Pages -
Publisher
EMBO
Online
2019-11-04
DOI
10.15252/emmm.201911115
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started