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

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

(2019) Christopher N. Toepfer et al.   Science Translational Medicine

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Recovery of left ventricular function following in vivo reexpression of cardiac myosin binding protein C

(2018) Jasmine Giles et al.   JOURNAL OF GENERAL PHYSIOLOGY

MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy

(2018) Thomas S. O'Leary et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Identification of pathogenic gene mutations inLMNAandMYBPC3that alter RNA splicing

(2017) Kaoru Ito et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder MutationCLINICAL PERSPECTIVE

(2017) Hannah G. van Velzen et al.   Circulation-Cardiovascular Genetics

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

Genetic advances in sarcomeric cardiomyopathies: state of the art

(2015) C. Y. Ho et al.   CARDIOVASCULAR RESEARCH

Hypertrophic cardiomyopathy: single gene disease or complex trait?

(2015) Adam S. Helms et al.   EUROPEAN HEART JOURNAL

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

(2015) Godelieve R.F. Claes et al.   EUROPEAN HEART JOURNAL

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

(2015) Lucie Carrier et al.   GENE

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

Myosin-binding protein C corrects an intrinsic inhomogeneity in cardiac excitation-contraction coupling

(2015) M. J. Previs et al.   Science Advances

Structural Characterization of the C3 Domain of Cardiac Myosin Binding Protein C and Its Hypertrophic Cardiomyopathy-Related R502W Mutant

(2014) Xiaolu Linda Zhang et al.   BIOCHEMISTRY

Sarcomere Mutation-Specific Expression Patterns in Human Hypertrophic Cardiomyopathy

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

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

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

(2012) Carolien H Teirlinck et al.   BMC Medical Genetics

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

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

Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy

(2012) Eric C. Wooten et al.   Circulation-Cardiovascular Genetics

Ablation of cardiac myosin–binding protein-C accelerates contractile kinetics in engineered cardiac tissue

(2012) Willem J. de Lange et al.   JOURNAL OF GENERAL PHYSIOLOGY

Molecular Mechanics of Cardiac Myosin-Binding Protein C in Native Thick Filaments

(2012) M. J. Previs et al.   SCIENCE

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

(2009) Steven Marston et al.   CIRCULATION RESEARCH