Functional characterization of human myosin‐binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon‐specific cardiac phenotypes in zebrafish model

Zebrafish Embryos Enable Multi-Scale High-Throughput Muscle Mechanics

(2019) Andrew Mead et al.   BIOPHYSICAL JOURNAL

Fibrosis and wall thickness affect ventricular repolarization dynamics in hypertrophic cardiomyopathy

(2018) Mikko Jalanko et al.   ANNALS OF NONINVASIVE ELECTROCARDIOLOGY

Global Burden of Hypertrophic Cardiomyopathy

(2018) Barry J. Maron et al.   JACC-Heart Failure

Clinical Course and Management of Hypertrophic Cardiomyopathy

(2018) Barry J. Maron   NEW ENGLAND JOURNAL OF MEDICINE

Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction

(2018) Sahar I. Da'as et al.   BIOCHEMICAL JOURNAL

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

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

Transcriptome Analysis of Cardiac Hypertrophic Growth in MYBPC3-Null Mice Suggests Early Responders in Hypertrophic Remodeling

(2018) Emily Farrell et al.   Frontiers in Physiology

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities

(2017) Iman A. Mohamed et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The Calcineurin-FoxO-MuRF1 signaling pathway regulates myofibril integrity in cardiomyocytes

(2017) Hirohito Shimizu et al.   eLife

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

(2017) James W. McNamara et al.   PLoS One

Exon- and contraction-dependent functions of titin in sarcomere assembly

(2016) Yu-Huan Shih et al.   DEVELOPMENT

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Zebrafish models of cardiovascular disease

(2016) Despina Bournele et al.   HEART FAILURE REVIEWS

Impact of disease-causing mutations on inter-domain interactions in cMyBP-C: a steered molecular dynamics study

(2016) Navaneethakrishnan Krishnamoorthy et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

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

C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation

(2016) Samantha P. Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) Lucie Carrier et al.   GENE

An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy

(2015) Poornima Gajendrarao et al.   Journal of Cardiovascular Translational Research

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing

(2015) Xuxia Liu et al.   Scientific Reports

Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function

(2015) Matthew J. Birket et al.   Cell Reports

Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy

(2014) David Barefield et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Ubiquitin-proteasome system and hereditary cardiomyopathies

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

Native SDS-PAGE: high resolution electrophoretic separation of proteins with retention of native properties including bound metal ions

(2014) Andrew B. Nowakowski et al.   Metallomics

Progress in the Molecular Genetics of Hypertrophic Cardiomyopathy: A Mini-Review

(2013) Tao Tian et al.   GERONTOLOGY

A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations

(2013) Luís R Lopes et al.   HEART

Molecular Modeling of Disease Causing Mutations in Domain C1 of cMyBP-C

(2013) Poornima Gajendrarao et al.   PLoS One

The zebrafish reveals dependence of the mast cell lineage on Notch signaling in vivo

(2012) S. I. Da'as et al.   BLOOD

F-Box and Leucine-Rich Repeat Protein 22 Is a Cardiac-Enriched F-Box Protein That Regulates Sarcomeric Protein Turnover and Is Essential for Maintenance of Contractile Function In Vivo

(2012) Sebastian Spaich et al.   CIRCULATION RESEARCH

Patterns of Disease Progression in Hypertrophic Cardiomyopathy

(2012) Iacopo Olivotto et al.   Circulation-Heart Failure

Zebrafish models in cardiac development and congenital heart birth defects

(2012) Shu Tu et al.   DIFFERENTIATION

The Motif of Human Cardiac Myosin-binding Protein C Is Required for Its Ca2+-dependent Interaction with Calmodulin

(2012) Yanling Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Determination of the critical residues responsible for cardiac myosin binding protein C's interactions

(2012) Md. Shenuarin Bhuiyan et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Early Results of Sarcomeric Gene Screening from the Egyptian National BA-HCM Program

(2012) Heba Sh. Kassem et al.   Journal of Cardiovascular Translational Research

Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy

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

In the Thick of It

(2011) Samantha P. Harris et al.   CIRCULATION RESEARCH

Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish

(2011) J. R. Becker et al.   Disease Models & Mechanisms

Knockdown and overexpression of Unc-45b result in defective myofibril organization in skeletal muscles of zebrafish embryos

(2010) Elena P Bernick et al.   BMC CELL BIOLOGY

Zebrafish mast cells possess an FcɛRI-like receptor and participate in innate and adaptive immune responses

(2010) Sahar Da’as et al.   DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY

Mouse HCM Model Expressing E99K ACTC Mutation Reproduces Phenotypes As Found In Human Patients

(2009) Weihua Song et al.   BIOPHYSICAL JOURNAL

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

Ubiquitin-Proteasome System Impairment Caused by a Missense Cardiac Myosin-binding Protein C Mutation and Associated with Cardiac Dysfunction in Hypertrophic Cardiomyopathy

(2008) Udin Bahrudin et al.   JOURNAL OF MOLECULAR BIOLOGY

Crystal Structure of the C1 domain of Cardiac Myosin Binding Protein-C: Implications for Hypertrophic Cardiomyopathy

(2008) Lata Govada et al.   JOURNAL OF MOLECULAR BIOLOGY

Assessment and Significance of Left Ventricular Mass by Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

(2008) Iacopo Olivotto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY