Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Loss of cardiac Wnt/β-catenin signalling in desmoplakin-deficient AC8 zebrafish models is rescuable by genetic and pharmacological intervention

(2018) Alice Giuliodori et al.   CARDIOVASCULAR RESEARCH

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

(2018) Maarten M. G. van den Hoogenhof et al.   CIRCULATION

Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43

(2018) Chen Yuan Kam et al.   JOURNAL OF CELL BIOLOGY

The spectrum of manifestations in desmoplakin gene ( DSP ) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab

(2018) Amy S. Paller et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Debunking the Myth of Exercise-Induced Immune Suppression: Redefining the Impact of Exercise on Immunological Health Across the Lifespan

(2018) John P. Campbell et al.   Frontiers in Immunology

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

(2018) Diptendu Chatterjee et al.   EUROPEAN HEART JOURNAL

Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

(2018) T. Maruthappu et al.   BRITISH JOURNAL OF DERMATOLOGY

Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome

(2017) Deniz Akdis et al.   EUROPEAN HEART JOURNAL

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16

(2017) Thiviyani Maruthappu et al.   Nature Communications

Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular CardiomyopathyCLINICAL PERSPECTIVE

(2017) Bongani M. Mayosi et al.   Circulation-Cardiovascular Genetics

Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2017) Thomas P. Mast et al.   JAMA Cardiology

Nonischemic Left Ventricular Scar as a Substrate of Life-Threatening Ventricular Arrhythmias and Sudden Cardiac Death in Competitive Athletes

(2016) Alessandro Zorzi et al.   Circulation-Arrhythmia and Electrophysiology

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers

(2016) Abhishek C. Sawant et al.   HEART RHYTHM

Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes

(2016) Adi D. Dubash et al.   JOURNAL OF CELL BIOLOGY

BAG3 regulates contractility and Ca2+ homeostasis in adult mouse ventricular myocytes

(2016) Arthur M. Feldman et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

(2016) Marie-Elodie Cattin et al.   NEUROMUSCULAR DISORDERS

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

(2016) Rocio Toro et al.   PLoS One

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

(2015) Aditya Bhonsale et al.   EUROPEAN HEART JOURNAL

Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy

(2015) Anne-Christine Ruwald et al.   EUROPEAN HEART JOURNAL

Sports in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy and desmosomal mutations

(2015) A.C. Sawant et al.   HERZ

Arrhythmogenic cardiomyopathy: a disease of intercalated discs

(2014) Martina Calore et al.   CELL AND TISSUE RESEARCH

Prevalence and Prognostic Value of Concealed Structural Abnormalities in Patients With Apparently Idiopathic Ventricular Arrhythmias of Left Versus Right Ventricular Origin

(2014) Gaetano Nucifora et al.   Circulation-Arrhythmia and Electrophysiology

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

(2014) Matthew A. Brooke et al.   HUMAN MOLECULAR GENETICS

Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin–EB1 interactions

(2014) Dipal M. Patel et al.   JOURNAL OF CELL BIOLOGY

Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy

(2014) A. Asimaki et al.   Science Translational Medicine

Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers

(2013) Cynthia A. James et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

(2012) Annika F.M. Haywood et al.   EUROPEAN HEART JOURNAL

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Plasma BIN1 correlates with heart failure and predicts arrhythmia in patients with arrhythmogenic right ventricular cardiomyopathy

(2012) Ting-Ting Hong et al.   HEART RHYTHM

Abnormal p38  mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

(2012) A. Muchir et al.   HUMAN MOLECULAR GENETICS

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

(2012) Ingrid A.W. van Rijsingen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Role of Rho GTPases in desmosomal adhesion and pemphigus pathogenesis

(2011) Volker Spindler et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Interactions Between Ankyrin-G, Plakophilin-2, and Connexin43 at the Cardiac Intercalated Disc

(2011) Priscila Y. Sato et al.   CIRCULATION RESEARCH

Altered Desmosomal Proteins in Granulomatous Myocarditis and Potential Pathogenic Links to Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Angeliki Asimaki et al.   Circulation-Arrhythmia and Electrophysiology

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy

(2011) Marwan M. Refaat et al.   HEART RHYTHM

Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

(2011) Diana C. Blaydon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

(2009) J. Peter van Tintelen et al.   HEART RHYTHM

Myocyte necrosis underlies progressive myocardial dystrophy in mousedsg2-related arrhythmogenic right ventricular cardiomyopathy

(2009) Kalliopi Pilichou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Angeliki Asimaki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prospective Study of Cardiac Sarcoid Mimicking Arrhythmogenic Right Ventricular Dysplasia

(2008) SMIT C. VASAIWALA et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY