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 …

Regulation of contraction in striated muscle

AM Gordon, E Homsher, M Regnier - Physiological reviews, 2000 - journals.physiology.org
Ca2+ regulation of contraction in vertebrate striated muscle is exerted primarily through
effects on the thin filament, which regulate strong cross-bridge binding to actin. Structural …

[HTML][HTML] The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

JG Seidman, C Seidman - Cell, 2001 - cell.com
The Genetic Basis for Cardiomyopathy: Cell Skip to Main Content Advertisement Cell This
journal offers authors two options (open access or subscription) to publish research This …

Cardiac troponin T is essential in sarcomere assembly and cardiac contractility

AJ Sehnert, A Huq, BM Weinstein, C Walker… - Nature …, 2002 - nature.com
Mutations of the gene (TNNT2) encoding the thin-filament contractile protein cardiac
troponin T are responsible for 15% of all cases of familial hypertrophic cardiomyopathy, the …

The molecular genetic basis for hypertrophic cardiomyopathy

AJ Marian, R Roberts - Journal of molecular and cellular cardiology, 2001 - Elsevier
Hypertrophic cardiomyopathy (HCM), a relatively common disease, is diagnosed clinically
by unexplained cardiac hypertrophy and pathologically by myocyte hypertrophy, disarray …

Molecular mechanisms of inherited cardiomyopathies

D Fatkin, RM Graham - Physiological reviews, 2002 - journals.physiology.org
Cardiomyopathies are diseases of heart muscle that may result from a diverse array of
conditions that damage the heart and other organs and impair myocardial function, including …

Troponin I degradation and covalent complex formation accompanies myocardial ischemia/reperfusion injury

JL McDonough, DK Arrell, JE Van Eyk - Circulation research, 1999 - Am Heart Assoc
Selective troponin I (TnI) modification has been demonstrated to be in part responsible for
the contractile dysfunction observed with myocardial ischemia/reperfusion injury. We have …

Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy

JC Tardiff, TE Hewett, BM Palmer… - The Journal of …, 1999 - Am Soc Clin Investig
Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic
cardiomyopathy (FHC). Patients with cTnT mutations generally exhibit mild or no ventricular …

Impaired cardiomyocyte relaxation and diastolic function in transgenic mice expressing slow skeletal troponin I in the heart

RC Fentzke, SH Buck, JR Patel, H Lin… - The Journal of …, 1999 - Wiley Online Library
1 To assess the specific functions of the cardiac isoform of troponin I (cTnI), we produced
transgenic mice that expressed slow skeletal troponin I (ssTnI) specifically in …

Transgenic mouse model of stunned myocardium

AM Murphy, H Kogler, D Georgakopoulos… - Science, 2000 - science.org
Stunned myocardium is a syndrome of reversible contractile failure that frequently
complicates coronary artery disease. Cardiac excitation is uncoupled from contraction at the …