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 …

Calcium signaling and cardiac arrhythmias

AP Landstrom, D Dobrev, XHT Wehrens - Circulation research, 2017 - Am Heart Assoc
There has been a significant progress in our understanding of the molecular mechanisms by
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …

[HTML][HTML] Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells

F Lan, AS Lee, P Liang, V Sanchez-Freire, PK Nguyen… - Cell stem cell, 2013 - cell.com
Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder
linked to arrhythmia and sudden cardiac death. While the causes of HCM have been …

A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance

E van Rooij, D Quiat, BA Johnson, LB Sutherland… - Developmental cell, 2009 - cell.com
Myosin is the primary regulator of muscle strength and contractility. Here we show that three
myosin genes, Myh6, Myh7, and Myh7b, encode related intronic microRNAs (miRNAs) …

Therapeutic inhibition of miR-208a improves cardiac function and survival during heart failure

RL Montgomery, TG Hullinger, HM Semus… - Circulation, 2011 - Am Heart Assoc
Background—Diastolic dysfunction in response to hypertrophy is a major clinical syndrome
with few therapeutic options. MicroRNAs act as negative regulators of gene expression by …

Cardiac hypertrophy: the good, the bad, and the ugly

N Frey, EN Olson - Annual review of physiology, 2003 - annualreviews.org
▪ Abstract Cardiac hypertrophy is the heart's response to a variety of extrinsic and intrinsic
stimuli that impose increased biomechanical stress. While hypertrophy can eventually …

Control of stress-dependent cardiac growth and gene expression by a microRNA

E Van Rooij, LB Sutherland, X Qi, JA Richardson, J Hill… - science, 2007 - science.org
The heart responds to diverse forms of stress by hypertrophic growth accompanied by
fibrosis and eventual diminution of contractility, which results from down-regulation of α …

[HTML][HTML] NFAT signaling: choreographing the social lives of cells

GR Crabtree, EN Olson - Cell, 2002 - cell.com
Calcium signaling activates the phosphatase calcineurin and induces movement of NFATc
proteins into the nucleus, where they cooperate with other proteins to form complexes on …

[HTML][HTML] A tension-based model distinguishes hypertrophic versus dilated cardiomyopathy

J Davis, LC Davis, RN Correll, CA Makarewich… - Cell, 2016 - cell.com
The heart either hypertrophies or dilates in response to familial mutations in genes encoding
sarcomeric proteins, which are responsible for contraction and pumping. These mutations …

Advances in the genetic basis and pathogenesis of sarcomere cardiomyopathies

R Yotti, CE Seidman, JG Seidman - Annual review of genomics …, 2019 - annualreviews.org
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart
muscle disorders that are caused by pathogenic variants in sarcomere protein genes. HCM …