Mechanotransduction in cardiac hypertrophy and failure

RC Lyon, F Zanella, JH Omens, F Sheikh - Circulation research, 2015 - Am Heart Assoc
Cardiac muscle cells have an intrinsic ability to sense and respond to mechanical load
through a process known as mechanotransduction. In the heart, this process involves the …

[HTML][HTML] Desmosome structure, composition and function

D Garrod, M Chidgey - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2008 - Elsevier
Desmosomes are intercellular junctions of epithelia and cardiac muscle. They resist
mechanical stress because they adopt a strongly adhesive state in which they are said to be …

A systematic survey of loss-of-function variants in human protein-coding genes

DG MacArthur, S Balasubramanian, A Frankish… - Science, 2012 - science.org
Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease

M Delmar, WJ McKenna - Circulation research, 2010 - Am Heart Assoc
Intercellular communication is essential for proper cardiac function. Mechanical and
electrical activity need to be synchronized so that the work of individual myocytes transforms …

Muscle intermediate filaments and their links to membranes and membranous organelles

Y Capetanaki, RJ Bloch, A Kouloumenta… - Experimental cell …, 2007 - Elsevier
Intermediate filaments (IFs) play a key role in the integration of structure and function of
striated muscle, primarily by mediating mechanochemical links between the contractile …

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

MM Awad, H Calkins, DP Judge - Nature clinical practice …, 2008 - nature.com
Arrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy
estimated to affect approximately 1 in 5,000 individuals. Cardinal manifestations include …

Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

S Sen-Chowdhry, P Syrris, WJ McKenna - Journal of the American College …, 2007 - jacc.org
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a recognized cause of sudden
cardiac death, which may be prevented by timely detection and intervention. Clinical …

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

A Asimaki, P Syrris, T Wichter, P Matthias… - The American Journal of …, 2007 - cell.com
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder associated
with arrhythmias and sudden death. A recessive mutation in the gene encoding plakoglobin …

Cell-cell connection to cardiac disease

F Sheikh, RS Ross, J Chen - Trends in cardiovascular medicine, 2009 - Elsevier
Intercalated disks (ICDs) are highly organized cell-cell adhesion structures, which connect
cardiomyocytes to one another. They are composed of three major complexes …

Molecular genetics and pathogenesis of cardiomyopathy

A Kimura - Journal of human genetics, 2016 - nature.com
Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …