The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

LINC complexes in health and disease

(2014) Alexandre Méjat   Nucleus

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations

(2013) Takuro Arimura et al.   CARDIOVASCULAR RESEARCH

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

(2013) Berivan Baskin et al.   HUMAN GENETICS

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling

(2013) Monika Zwerger et al.   HUMAN MOLECULAR GENETICS

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

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

(2012) Revathi Rajkumar et al.   BMC Medical Genetics

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations

(2012) Florian Kirchner et al.   Circulation-Cardiovascular Genetics

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

(2012) KA Hodgkinson et al.   CLINICAL 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

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

Loss of Cadherin-Binding Proteins  -Catenin and Plakoglobin in the Heart Leads to Gap Junction Remodeling and Arrhythmogenesis

(2012) D. Swope et al.   MOLECULAR AND CELLULAR BIOLOGY

Desmosome–Ion Channel Interactions and Their Possible Role in Arrhythmogenic Cardiomyopathy

(2012) Mario Delmar   PEDIATRIC CARDIOLOGY

In Vitro Functional Analyses of Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmoglein-2-Missense Variations

(2012) Anna Gaertner et al.   PLoS One

In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells

(2011) Azra Fatima et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy

(2011) AH Christensen et al.   CLINICAL GENETICS

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

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Screening of Three Novel Candidate Genes in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Alex Hørby Christensen et al.   Genetic Testing and Molecular Biomarkers

Pathophysiology of arrhythmogenic cardiomyopathy

(2011) Cristina Basso et al.   Nature Reviews Cardiology

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy

(2010) Wen-Chen Liang et al.   ANNALS OF NEUROLOGY

Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment

(2010) Srijita Sen-Chowdhry et al.   Annual Review of Medicine

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

(2010) P. Charron et al.   EUROPEAN HEART JOURNAL

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

(2010) F. I. Marcus et al.   EUROPEAN HEART JOURNAL

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Diseases of the Nuclear Envelope

(2010) H. J. Worman et al.   Cold Spring Harbor Perspectives in Biology

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

LUMA interacts with emerin and influences its distribution at the inner nuclear membrane

(2008) Luiza Bengtsson et al.   JOURNAL OF CELL SCIENCE

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

(2008) Maximilian G. Posch et al.   MOLECULAR GENETICS AND METABOLISM

Pheochromocytoma

(2008) Bas Havekes et al.   Nature clinical practice. Cardiovascular medicine

Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Hendrik Milting et al.   Nature clinical practice. Cardiovascular medicine