[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era

P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …

Role of the Wnt‐Frizzled system in cardiac pathophysiology: a rapidly develo**, poorly understood area with enormous potential

K Dawson, M Aflaki, S Nattel - The Journal of physiology, 2013 - Wiley Online Library
Abstract The Wnt‐Frizzled (Fzd) G‐protein‐coupled receptor system, involving 19 distinct
Wnt ligands and 10 Fzd receptors, plays key roles in the development and functioning of …

The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy

SN Chen, P Gurha, R Lombardi, A Ruggiero… - Circulation …, 2014 - Am Heart Assoc
Rationale: Mutations in the intercalated disc proteins, such as plakophilin 2 (PKP2), cause
arrhythmogenic cardiomyopathy (AC). AC is characterized by the replacement of cardiac …

Overview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseases

JM Churko, GL Mantalas, MP Snyder, JC Wu - Circulation research, 2013 - Am Heart Assoc
High throughput sequencing technologies have become essential in studies on genomics,
epigenomics, and transcriptomics. Although sequencing information has traditionally been …

Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells

O Caspi, I Huber, A Gepstein, G Arbel… - Circulation …, 2013 - Am Heart Assoc
Background—Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart
muscle disorder resulting from desmosomal protein mutations. ARVC is characterized …

Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence

A Lluch, J Latorre, A Serena-Maione, I Espadas… - Nature …, 2023 - nature.com
Abstract Plakophilin-2 (PKP2) is a key component of desmosomes, which, when defective, is
known to promote the fibro-fatty infiltration of heart muscle. Less attention has been given to …

Ventricular arrhythmias associated with long-term endurance sports: what is the evidence?

H Heidbuchel, DL Prior, A La Gerche - British journal of sports …, 2012 - bjsm.bmj.com
Athletic performance tests the limits of the human body and mind. Awe-inspiring
achievements is what makes sports so fascinating. It is well appreciated however that top …

Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations

I Olivotto, F Girolami, R Sciagrà, MJ Ackerman… - Journal of the American …, 2011 - jacc.org
Objectives: The purpose of this study was to assess myocardial blood flow (MBF) using
positron emission tomography in patients with hypertrophic cardiomyopathy (HCM) …

Adipose tissue: friend or foe?

M Hassan, N Latif, M Yacoub - Nature Reviews Cardiology, 2012 - nature.com
The perception of adipose tissue has changed considerably with the dramatic increase in
the incidence of obesity and obesity-related comorbidities over the past 3 decades. Excess …

Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy

R Lombardi, M da Graca Cabreira-Hansen… - Circulation …, 2011 - Am Heart Assoc
Rationale: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease of
desmosome proteins characterized by fibroadipogenesis in the myocardium. We have …