Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Chikusetsu saponin IVa protects pancreatic β cell against intermittent high glucose-induced injury by activating Wnt/β-catenin/TCF7L2 pathway

(2020) Jia Cui et al.   Aging-US

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

(2020) Xiaoping Lin et al.   BMC Cardiovascular Disorders

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

(2020) Eric D. Smith et al.   CIRCULATION

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

(2020) Wolfgang Poller et al.   Journal of the American Heart Association

Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies

(2020) Nicolas Piriou et al.   ESC Heart Failure

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

(2020) Antheia Kissopoulou et al.   ESC Heart Failure

Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy

(2020) Nadine Lubos et al.   BASIC RESEARCH IN CARDIOLOGY

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities

(2020) J.Y.W. Lee et al.   BRITISH JOURNAL OF DERMATOLOGY

Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease

(2020) Shanshan Gao et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

(2020) Przemysław Chmielewski et al.   Diagnostics

A novel tumor suppressor SPINK5 targets Wnt/β-catenin signaling pathway in esophageal cancer

(2019) Qian Wang et al.   Cancer Medicine

Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo

(2019) Navaneetha Krishnan Bharathan et al.   DEVELOPMENTAL BIOLOGY

2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

(2019) Jeffrey A. Towbin et al.   HEART RHYTHM

Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy

(2019) Stephen P. Chelko et al.   CIRCULATION

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

(2019) Andreas Brodehl et al.   Genes

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

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

Naxos disease: from the origin to today

(2018) Guo-Liang Li et al.   Orphanet Journal of Rare Diseases

Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

(2018) David I. Blusztein et al.   Heart Lung and Circulation

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

Intercalated discs: cellular adhesion and signaling in heart health and diseases

(2018) Guangze Zhao et al.   HEART FAILURE REVIEWS

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation

(2017) Silvia Castelletti et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Cardiac Fibro-Adipocyte Progenitors Express Desmosome Proteins and Preferentially Differentiate to Adipocytes Upon Deletion of the Desmoplakin GeneNovelty and Significance

(2016) Raffaella Lombardi et al.   CIRCULATION RESEARCH

Mechanisms of Hippo pathway regulation

(2016) Zhipeng Meng et al.   GENES & DEVELOPMENT

Structure of the Intermediate Filament-Binding Region of Desmoplakin

(2016) Hyunook Kang et al.   PLoS One

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy

(2015) Alexandros Protonotarios et al.   EUROPACE

Dominantde novo DSPmutations cause erythrokeratodermia-cardiomyopathy syndrome

(2015) Lynn M. Boyden et al.   HUMAN MOLECULAR GENETICS

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

(2015) Laura Polivka et al.   JOURNAL OF MEDICAL GENETICS

Left ventricular non-compaction cardiomyopathy

(2015) Jeffrey A Towbin et al.   LANCET

Inherited desmosomal disorders

(2014) Liat Samuelov et al.   CELL AND TISSUE RESEARCH

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype

(2014) Jose María López-Ayala et al.   EUROPACE

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

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

The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy

(2013) Suet Nee Chen et al.   CIRCULATION RESEARCH

Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model

(2013) Robert C. Lyon et al.   HUMAN MOLECULAR GENETICS

Mechanistic Basis of Desmosome-Targeted Diseases

(2013) Caezar Al-Jassar et al.   JOURNAL OF MOLECULAR BIOLOGY

Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL-1 cardiomyocytes

(2013) QIANHUAN ZHANG et al.   Molecular Medicine Reports

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study

(2012) John Gomes et al.   EUROPEAN HEART JOURNAL

YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy

(2012) A. von Gise et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear Plakoglobin Is Essential for Differentiation of Cardiac Progenitor Cells to Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Raffaella Lombardi et al.   CIRCULATION RESEARCH

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

(2011) Tatjana Williams et al.   Clinical Research in Cardiology

Hippo Pathway Inhibits Wnt Signaling to Restrain Cardiomyocyte Proliferation and Heart Size

(2011) T. Heallen et al.   SCIENCE

Identification and characterization of DSPIa, a novel isoform of human desmoplakin

(2010) Rita M. Cabral et al.   CELL AND TISSUE RESEARCH

An Updated Overview on Wnt Signaling Pathways

(2010) Tata Purushothama Rao et al.   CIRCULATION RESEARCH

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

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

A New Hypo/Oligodontia Syndrome

(2010) L. Chalabreysse et al.   JOURNAL OF DENTAL RESEARCH

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare “disease of the desmosome” with multiple clinical presentations

(2009) Thomas Herren et al.   Clinical Research in Cardiology

The Desmosome

(2009) E. Delva et al.   Cold Spring Harbor Perspectives in Biology

Left-Dominant Arrhythmogenic Cardiomyopathy

(2008) Srijita Sen-Chowdhry et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Desmosome structure, composition and function

(2007) David Garrod et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES