Research priorities in sarcomeric cardiomyopathies

Targets for therapy in sarcomeric cardiomyopathies

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

FHL2 expression and variants in hypertrophic cardiomyopathy

(2014) Felix W. Friedrich et al.   BASIC RESEARCH IN CARDIOLOGY

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

Sarcomere Mutation-Specific Expression Patterns in Human Hypertrophic Cardiomyopathy

(2014) A. S. Helms et al.   Circulation-Cardiovascular Genetics

Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

(2014) Gabriella Captur et al.   Circulation-Cardiovascular Imaging

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

(2014) Elise Schaefer et al.   European Journal of Medical Genetics

Ubiquitin-proteasome system and hereditary cardiomyopathies

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

Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403QMYH7mutation

(2014) E. Rosalie Witjas-Paalberends et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

(2014) Giulia Mearini et al.   Nature Communications

Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue

(2013) Claudia Crocini et al.   BASIC RESEARCH IN CARDIOLOGY

Hypertrophic cardiomyopathy: prognostic factors and survival analysis in 128 Egyptian patients

(2013) Sonia A. El-Saiedi et al.   CARDIOLOGY IN THE YOUNG

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

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

Focal Energy Deprivation Underlies Arrhythmia Susceptibility in Mice With Calcium-Sensitized Myofilaments

(2013) Sabine Huke et al.   CIRCULATION RESEARCH

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

(2013) Vasco Sequeira et al.   CIRCULATION RESEARCH

T1 Measurements Identify Extracellular Volume Expansion in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers With and Without Left Ventricular Hypertrophy

(2013) Carolyn Y. Ho 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

Transgenic Mouse α- and β-Cardiac Myosins Containing the R403Q Mutation Show Isoform-dependent Transient Kinetic Differences

(2013) Susan Lowey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy

(2013) Bradley M. Palmer et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

HCM-linked ∆160E cardiac troponin T mutation causes unique progressive structural and molecular ventricular remodeling in transgenic mice

(2013) Rachel K. Moore et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

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

Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice

(2013) Andrea Stöhr et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Proteasomal and lysosomal protein degradation and heart disease

(2013) Xuejun Wang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy

(2013) Jianming Jiang et al.   SCIENCE

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

Myofilament Ca Sensitization Increases Cytosolic Ca Binding Affinity, Alters Intracellular Ca Homeostasis, and Causes Pause-Dependent Ca-Triggered Arrhythmia

(2012) Tilmann Schober et al.   CIRCULATION RESEARCH

Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy

(2012) Neal K. Lakdawala et al.   Circulation-Cardiovascular Genetics

Evaluating Treatment Efficacy by Multiple End Points in Phase II Acute Heart Failure Clinical Trials

(2012) Hengrui Sun et al.   Circulation-Heart Failure

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

Effects of R92 mutations in mouse cardiac troponin T are influenced by changes in myosin heavy chain isoform

(2012) Steven J. Ford et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific

(2012) Huamei He et al.   JOURNAL OF PHYSIOLOGY-LONDON

A Case of Compound Mutations in the MYBPC3 Gene Associated with Biventricular Hypertrophy and Neonatal Death

(2012) Nicola Marziliano et al.   Neonatology

Multiple myocardial crypts on modified long-axis view are a specific finding in pre-hypertrophic HCM mutation carriers

(2012) W. P. Brouwer et al.   European Heart Journal-Cardiovascular Imaging

Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy

(2011) Saskia Schlossarek et al.   BASIC RESEARCH IN CARDIOLOGY

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

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

Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

(2011) Martin S. Maron et al.   CIRCULATION

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary

(2011) et al.   CIRCULATION

Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

(2011) Sabine J. van Dijk et al.   Circulation-Heart Failure

Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction

(2011) Stefan A.J. Timmer et al.   EUROPEAN JOURNAL OF HEART FAILURE

The coronary circulation and blood flow in left ventricular hypertrophy

(2011) Paolo G. Camici et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice

(2011) Saskia Schlossarek et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

(2011) Steven Marston et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Oxidation of Myofibrillar Proteins in Human Heart Failure

(2011) Marcella Canton et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Spectrum and Clinical Significance of Systolic Function and Myocardial Fibrosis Assessed by Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

(2010) Iacopo Olivotto et al.   AMERICAN JOURNAL OF CARDIOLOGY

Ubiquitin Proteasome Dysfunction in Human Hypertrophic and Dilated Cardiomyopathies

(2010) Jaime M. Predmore et al.   CIRCULATION

Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression

(2010) P. Di Donna et al.   EUROPACE

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

Increased myofilament Ca2+-sensitivity and arrhythmia susceptibility

(2010) Sabine Huke et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes

(2010) Marco L. Alves et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

(2010) Neal K. Lakdawala et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

(2010) Carolyn Y. Ho et al.   NEW ENGLAND JOURNAL OF MEDICINE

The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

(2009) L. Carrier et al.   CARDIOVASCULAR RESEARCH

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

(2009) Sabine J. van Dijk 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

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

(2009) Sebastian Carballo et al.   CIRCULATION RESEARCH

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

(2009) Steven Marston et al.   CIRCULATION RESEARCH

Echocardiographic Strain Imaging to Assess Early and Late Consequences of Sarcomere Mutations in Hypertrophic Cardiomyopathy

(2009) Carolyn Y. Ho et al.   Circulation-Cardiovascular Genetics

Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation

(2009) Lisa M. Dellefave et al.   Circulation-Cardiovascular Genetics

Developmental origins of hypertrophic cardiomyopathy phenotypes: a unifying hypothesis

(2009) Iacopo Olivotto et al.   Nature Reviews Cardiology

Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

(2009) Michelle Michels et al.   JACC-Cardiovascular Imaging

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

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Functional Effects of the Hypertrophic Cardiomyopathy R403Q Mutation Are Different in an α- or β-Myosin Heavy Chain Backbone

(2008) Susan Lowey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY