Molecular Genetic Basis of Hypertrophic Cardiomyopathy

To lie or not to lie: Super-relaxing with myosins

(2021) Suman Nag et al.   eLife

Genetic Basis and Molecular Biology of Cardiac Arrhythmias in Cardiomyopathies

(2020) Ali J Marian et al.   CARDIOVASCULAR RESEARCH

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

(2020) Joel Salazar-Mendiguchía et al.   HEART

Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy

(2020) Louise L. A. M. Nijenkamp et al.   PLoS One

Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy

(2020) Carolyn Y. Ho et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

(2020) Andrew R. Harper et al.   Circulation-Genomic and Precision Medicine

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and tetralogy of fallot and its functional evaluation in the Drosophila heart

(2020) Emilie Auxerre-Plantié et al.   Disease Models & Mechanisms

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

(2020) Iacopo Olivotto et al.   LANCET

Cells of the adult human heart

(2020) Monika Litviňuková et al.   NATURE

Elevation of high‐sensitivity cardiac troponin T and left ventricular remodelling in hypertrophic cardiomyopathy

(2020) Toru Kubo et al.   ESC Heart Failure

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

(2020) Adam S. Helms et al.   Circulation-Genomic and Precision Medicine

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy

(2020) Neal K. Lakdawala et al.   Circulation-Genomic and Precision Medicine

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

(2019) Maksymilian Prondzynski et al.   EMBO Molecular Medicine

Impact of Sex on Clinical Course and Survival in the Contemporary Treatment Era for Hypertrophic Cardiomyopathy

(2019) Ethan J. Rowin et al.   Journal of the American Heart Association

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy

(2019) Lauren A. Eberly et al.   JAMA Cardiology

Effect of Spironolactone on Myocardial Fibrosis and Other Clinical Variables in Patients with Hypertrophic Cardiomyopathy

(2018) Martin S. Maron et al.   AMERICAN JOURNAL OF MEDICINE

Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM)Novelty and Significance

(2018) Ali J. Marian et al.   CIRCULATION RESEARCH

Efficacy of Ranolazine in Patients With Symptomatic Hypertrophic Cardiomyopathy

(2018) Iacopo Olivotto et al.   Circulation-Heart Failure

Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers

(2018) Robert L. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Single-Molecule Sequencing: Towards Clinical Applications

(2018) Adam Ameur et al.   TRENDS IN BIOTECHNOLOGY

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

(2017) Juan Gómez et al.   Circulation-Cardiovascular Genetics

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic CardiomyopathyClinical Perspective

(2016) Adam S. Helms et al.   CIRCULATION

Hypertrophic Cardiomyopathy

(2016) Theresia Kraft et al.   CIRCULATION RESEARCH

The Case of “Missing Causal Genes” and the Practice of Medicine

(2016) Ali J. Marian   CIRCULATION RESEARCH

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

(2016) James W. McNamara et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

(2016) Rowida Almomani et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

(2016) Richard D. Bagnall et al.   NEW ENGLAND JOURNAL OF MEDICINE

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

(2016) E. M. Green et al.   SCIENCE

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

(2015) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

A founderMYBPC3mutation results in HCM with a high risk of sudden death after the fourth decade of life

(2015) Chiara Calore et al.   JOURNAL OF MEDICAL GENETICS

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

Myocardial Fibrosis Quantified by Extracellular Volume Is Associated With Subsequent Hospitalization for Heart Failure, Death, or Both Across the Spectrum of Ejection Fraction and Heart Failure Stage

(2015) Erik B. Schelbert et al.   Journal of the American Heart Association

Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers

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

A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy

(2014) Pertti Jääskeläinen et al.   ANNALS OF MEDICINE

Hypertrophic and Dilated Cardiomyopathy: Four Decades of Basic Research on Muscle Lead to Potential Therapeutic Approaches to These Devastating Genetic Diseases

(2014) James A. Spudich   BIOPHYSICAL JOURNAL

Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations

(2014) E. Rosalie Witjas-Paalberends et al.   CARDIOVASCULAR RESEARCH

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

(2014) Berglind Adalsteinsdottir et al.   CIRCULATION

Mechanistic Heterogeneity in Contractile Properties of α-Tropomyosin (TPM1) Mutants Associated with Inherited Cardiomyopathies

(2014) Tejas M. Gupte et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

(2014) Danos C. Christodoulou et al.   JOURNAL OF CLINICAL INVESTIGATION

Ubiquitin-proteasome system and hereditary cardiomyopathies

(2014) Saskia Schlossarek et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Proteins involved in the degradation of cytoplasmic mRNA in the major eukaryotic model systems

(2014) Aleksandra Siwaszek et al.   RNA Biology

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

Atrial Fibrillation in Hypertrophic Cardiomyopathy: Prevalence, Clinical Correlations, and Mortality in a Large High‐Risk Population

(2014) Konstantinos C. Siontis et al.   Journal of the American Heart Association

Risk of Death in Long-Term Follow-Up of Patients With Apical Hypertrophic Cardiomyopathy

(2013) Kyle W. Klarich et al.   AMERICAN JOURNAL OF CARDIOLOGY

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

(2013) E. Rosalie Witjas-Paalberends et al.   CARDIOVASCULAR RESEARCH

Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

(2013) Vasco Sequeira et al.   CIRCULATION RESEARCH

Investigation of Global and Regional Myocardial Mechanics With 3-Dimensional Speckle Tracking Echocardiography and Relations to Hypertrophy and Fibrosis in Hypertrophic Cardiomyopathy

(2013) Jose Angel Urbano-Moral et al.   Circulation-Cardiovascular Imaging

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)

(2013) C. O'Mahony et al.   EUROPEAN HEART JOURNAL

The Hypertrophic Cardiomyopathy Myosin Mutation R453C Alters ATP Binding and Hydrolysis of Human Cardiac β-Myosin

(2013) Marieke Bloemink et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Familial hypertrophic cardiomyopathy: Functional effects of myosin mutation R723G in cardiomyocytes

(2013) Theresia Kraft et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy

(2013) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Post-translational control of cardiac hemodynamics through myosin binding protein C

(2013) Manish K. Gupta et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Effects of Losartan on Left Ventricular Hypertrophy and Fibrosis in Patients With Nonobstructive Hypertrophic Cardiomyopathy

(2013) Yuichi J. Shimada et al.   JACC-Heart Failure

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

(2012) Pertti Jääskeläinen et al.   ANNALS OF MEDICINE

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity

(2012) Alessandra Ruggiero et al.   CARDIOVASCULAR RESEARCH

Human Molecular Genetic and Functional Studies Identify TRIM63 , Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy

(2012) Suet Nee Chen et al.   CIRCULATION RESEARCH

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy

(2012) Stephen P. Page et al.   Circulation-Cardiovascular Genetics

Molecular, Cellular, and Functional Characterization of Myocardial Regions in Hypertrophic Cardiomyopathy

(2012) Andrea M. Cordero-Reyes et al.   Circulation-Cardiovascular Imaging

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

(2012) Felix W. Friedrich et al.   HUMAN MOLECULAR GENETICS

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

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy

(2011) Snigdha Tripathi et al.   BASIC RESEARCH IN CARDIOLOGY

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

(2010) Andrew P. Landstrom et al.   AMERICAN HEART JOURNAL

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

Atorvastatin and cardiac hypertrophy and function in hypertrophic cardiomyopathy: a pilot study

(2010) Sherif F. Nagueh et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

(2010) Polakit Teekakirikul et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

(2010) Francesca Girolami et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Prognostic Significance of Myocardial Fibrosis in Hypertrophic Cardiomyopathy

(2010) Rory O'Hanlon et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Sudden Deaths in Young Competitive Athletes

(2009) Barry J. Maron et al.   CIRCULATION

Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice

(2009) Nicolas Vignier et al.   CIRCULATION RESEARCH

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

(2009) Steven Marston et al.   CIRCULATION RESEARCH

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

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

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

(2009) Perundurai S Dhandapany et al.   NATURE GENETICS

Myosin ATP turnover rate is a mechanism involved in thermogenesis in resting skeletal muscle fibers

(2009) M. A. Stewart et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying Modifier Loci in Existing Genome Scan Data

(2008) E. W. Daw et al.   ANNALS OF HUMAN GENETICS

Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies

(2008) Raffaella Lombardi et al.   CARDIOVASCULAR RESEARCH

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

(2008) Christian Geier et al.   HUMAN MOLECULAR GENETICS

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE