Inherited cardiomyopathies

JA Towbin - Circulation Journal, 2014 - jstage.jst.go.jp
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

Genetic causes of dilated cardiomyopathy

L Mestroni, F Brun, A Spezzacatene, G Sinagra… - Progress in pediatric …, 2014 - Elsevier
Dilated cardiomyopathy is a disease of the myocardium characterized by left ventricular
dilatation and/or dysfunction, affecting both adult and pediatric populations. Almost half of …

Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend

K Haghighi, P Bidwell, EG Kranias - Journal of molecular and cellular …, 2014 - Elsevier
Depressed sarcoplasmic reticulum (SR) calcium cycling, reflecting impaired SR Ca-transport
and Ca-release, is a key and universal characteristic of human and experimental heart …

TGF-β1–induced phospholamban expression alters esophageal smooth muscle cell contraction in patients with eosinophilic esophagitis

LY Beppu, AA Anilkumar, RO Newbury, R Dohil… - Journal of allergy and …, 2014 - Elsevier
Background Eosinophilic esophagitis (EoE) is a chronic antigen-mediated disease
characterized by esophageal eosinophilia, remodeling, and fibrosis. TGF-β1 is a central …

Cardiovascular gene therapy for myocardial infarction

MC Scimia, AM Gumpert, WJ Koch - Expert opinion on biological …, 2014 - Taylor & Francis
Introduction: Cardiovascular gene therapy is the third most popular application for gene
therapy, representing 8.4% of all gene therapy trials as reported in 2012 estimates. Gene …

[HTML][HTML] MicroRNAs in heart failure: Small molecules with major impact

G Kalozoumi, M Yacoub, D Sanoudou - Global Cardiology Science …, 2014 - qscience.com
MicroRNAs (miRNAs) have emerged as potent modulators of mammalian gene expression,
thereby broadening the spectrum of molecular mechanisms orchestrating human …

Genetics and disease of ventricular muscle

D Fatkin, CE Seidman… - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Cardiomyopathies are a heterogeneous group of heart muscle diseases associated with
heart failure, arrhythmias, and death. Genetic variation has a critical role in the pathogenesis …

[HTML][HTML] Prioritizing causal disease genes using unbiased genomic features

RC Deo, G Musso, M Tasan, P Tang, A Poon, C Yuan… - Genome biology, 2014 - Springer
Background Cardiovascular disease (CVD) is the leading cause of death in the developed
world. Human genetic studies, including genome-wide sequencing and SNP-array …

[HTML][HTML] High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p. Arg14del mutation associated …

JMIH Gho, R van Es, N Stathonikos, M Harakalova… - PLoS …, 2014 - journals.plos.org
Myocardial fibrosis can lead to heart failure and act as a substrate for cardiac arrhythmias. In
dilated cardiomyopathy diffuse interstitial reactive fibrosis can be observed, whereas …

Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy

A Asimaki, JE Saffitz - Cell communication & adhesion, 2014 - Taylor & Francis
Arrhythmogenic cardiomyopathy (AC) is a primary myocardial disorder characterized by a
high incidence of ventricular arrhythmias often preceding the onset of ventricular remodeling …