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 …

[HTML][HTML] Overview of the muscle cytoskeleton

CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Nanoplastics impact the zebrafish (Danio rerio) transcriptome: Associated developmental and neurobehavioral consequences

AF Pedersen, DN Meyer, AMV Petriv, AL Soto… - Environmental …, 2020 - Elsevier
Microplastics (MPs) are a ubiquitous pollutant detected not only in marine and freshwater
bodies, but also in tap and bottled water worldwide. While MPs have been extensively …

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

RE Hershberger, DJ Hedges, A Morales - Nature reviews cardiology, 2013 - nature.com
Remarkable progress has been made in understanding the genetic basis of dilated
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

LR Lopes, A Zekavati, P Syrris, M Hubank… - Journal of medical …, 2013 - jmg.bmj.com
Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …

Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

RE Hershberger, JD Siegfried - Journal of the American College of …, 2011 - jacc.org
A great deal of progress has recently been made in the discovery and understanding of the
genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a …

Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline

RE Hershberger, J Lindenfeld, L Mestroni… - Journal of cardiac …, 2009 - Elsevier
Substantial progress has been made recently in understanding the genetic basis of
cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM) …

Several common variants modulate heart rate, PR interval and QRS duration

H Holm, DF Gudbjartsson, DO Arnar, G Thorleifsson… - Nature …, 2010 - nature.com
Electrocardiographic measures are indicative of the function of the cardiac conduction
system. To search for sequence variants that modulate heart rate, PR interval and QRS …

A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9

KJ Carroll, CA Makarewich… - Proceedings of the …, 2016 - National Acad Sciences
Clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas) 9
genomic editing has revolutionized the generation of mutant animals by simplifying the …

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history

CE Seidman, JG Seidman - Circulation research, 2011 - Am Heart Assoc
This review provides an historical and personal perspective on the discovery of genetic
causes for hypertrophic cardiomyopathy (HCM). Extraordinary insights by physicians who …