Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy
AJ Marian, E Braunwald - Circulation research, 2017 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …
Engineered in vitro disease models
The ultimate goal of most biomedical research is to gain greater insight into mechanisms of
human disease or to develop new and improved therapies or diagnostics. Although great …
human disease or to develop new and improved therapies or diagnostics. Although great …
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
CN Toepfer, H Wakimoto, AC Garfinkel… - Science translational …, 2019 - science.org
The mechanisms by which truncating mutations in MYBPC3 (encoding cardiac myosin-
binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and …
binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and …
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology
L Carrier, G Mearini, K Stathopoulou, F Cuello - Gene, 2015 - Elsevier
More than 350 individual MYPBC3 mutations have been identified in patients with inherited
hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations …
hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations …
Towards standardization of echocardiography for the evaluation of left ventricular function in adult rodents: a position paper of the ESC Working Group on Myocardial …
S Zacchigna, A Paldino, I Falcão-Pires… - Cardiovascular …, 2021 - academic.oup.com
Echocardiography is a reliable and reproducible method to assess non-invasively cardiac
function in clinical and experimental research. Significant progress in the development of …
function in clinical and experimental research. Significant progress in the development of …
Contractile defect caused by mutation in MYBPC3 revealed under conditions optimized for human PSC-cardiomyocyte function
MJ Birket, MC Ribeiro, G Kosmidis, D Ward… - Cell reports, 2015 - cell.com
Maximizing baseline function of human pluripotent stem cell-derived cardiomyocytes (hPSC-
CMs) is essential for their effective application in models of cardiac toxicity and disease …
CMs) is essential for their effective application in models of cardiac toxicity and disease …
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
M Prondzynski, MD Lemoine, ATL Zech… - EMBO Molecular …, 2019 - embopress.org
Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural
and contractile alterations. We identified a rare c. 740C> T (p. T247M) mutation in ACTN 2 …
and contractile alterations. We identified a rare c. 740C> T (p. T247M) mutation in ACTN 2 …
[HTML][HTML] Cardiomyocyte calcium handling in health and disease: Insights from in vitro and in silico studies
Abstract Calcium (Ca 2+) plays a central role in cardiomyocyte excitation-contraction
coupling. To ensure an optimal electrical impulse propagation and cardiac contraction, Ca …
coupling. To ensure an optimal electrical impulse propagation and cardiac contraction, Ca …
[HTML][HTML] Echocardiographic evaluation of diastolic function in mouse models of heart disease
M Schnelle, N Catibog, M Zhang… - Journal of molecular and …, 2018 - Elsevier
Background Mouse models of heart disease are extensively employed. The
echocardiographic characterization of contractile function is usually focused on systolic …
echocardiographic characterization of contractile function is usually focused on systolic …
[HTML][HTML] The physiological role of cardiac cytoskeleton and its alterations in heart failure
V Sequeira, LLAM Nijenkamp, JA Regan… - … et Biophysica Acta (BBA …, 2014 - Elsevier
Cardiac muscle cells are equipped with specialized biochemical machineries for the rapid
generation of force and movement central to the work generated by the heart. During each …
generation of force and movement central to the work generated by the heart. During each …