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 …

Engineered in vitro disease models

KH Benam, S Dauth, B Hassell… - Annual Review of …, 2015 - annualreviews.org
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 …

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 …

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 …

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 …

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 …

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 …

[HTML][HTML] Cardiomyocyte calcium handling in health and disease: Insights from in vitro and in silico studies

H Sutanto, A Lyon, J Lumens, U Schotten… - Progress in biophysics …, 2020 - Elsevier
Abstract Calcium (Ca 2+) plays a central role in cardiomyocyte excitation-contraction
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 …

[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 …