Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Bringing into focus the central domains C3-C6 of myosin binding protein C.
Doh CY et al.
Frontiers in Physiology, 2024
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014
Cardiac myosin binding protein-C: a structurally dynamic regulator of myocardial contractility.
Finley NL et al.
Pflugers Archiv : European Journal of Physiology, 2014
Myosin binding protein C: implications for signal-transduction.
Knöll R
Journal of Muscle Research and Cell Motility, 2012
Effect of cardiac myosin-binding protein C on stability of the thick filament.
McClellan G et al.
Journal of Molecular and Cellular Cardiology, 2004
Cardiac myosin binding protein C: its role in physiology and disease.
Flashman E et al.
Circulation Research, 2004
Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy.
Idowu SM et al.
Journal of Molecular Biology, 2003
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T et al.
Journal of the American College of Cardiology, 2003
Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
Moolman-Smook J et al.
Circulation Research, 2002
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Moolman-Smook JC et al.
American Journal of Human Genetics, 1999
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Moolman-Smook JC et al.
Journal of Medical Genetics, 1998