Dominantde novo DSPmutations cause erythrokeratodermia-cardiomyopathy syndrome

Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy

(2015) M Pigors et al.   ACTA DERMATO-VENEREOLOGICA

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

(2015) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

(2015) Vered Molho-Pessach et al.   PEDIATRIC DERMATOLOGY

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

(2014) C. Has et al.   BRITISH JOURNAL OF DERMATOLOGY

Inherited desmosomal disorders

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

Desmosomes in the Heart: A Review of Clinical and Mechanistic Analyses

(2014) Dipal M. Patel et al.   CELL COMMUNICATION AND ADHESION

Connexins: Sensors of epidermal integrity that are therapeutic targets

(2014) Patricia E. Martin et al.   FEBS LETTERS

Syndromic and non-syndromic disease-linked Cx43 mutations

(2014) Dale W. Laird   FEBS LETTERS

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

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

Early-Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin

(2014) Nina K. Antonov et al.   PEDIATRIC DERMATOLOGY

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation

(2013) Robert M. Harmon et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2013) Liat Samuelov et al.   NATURE GENETICS

Desmosome assembly and dynamics

(2013) Oxana Nekrasova et al.   TRENDS IN CELL BIOLOGY

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

(2012) TB Rasmussen et al.   CLINICAL GENETICS

Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia

(2012) Stéphane Boulé et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

(2011) F.J.D. Smith et al.   BRITISH JOURNAL OF DERMATOLOGY

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

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

Crystal Structure of a Rigid Four-Spectrin-Repeat Fragment of the Human Desmoplakin Plakin Domain

(2011) Hee-Jung Choi et al.   JOURNAL OF MOLECULAR BIOLOGY

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart

(2010) M.C. Bolling et al.   BRITISH JOURNAL OF DERMATOLOGY

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

(2010) M Al-Owain et al.   CLINICAL GENETICS

A New Hypo/Oligodontia Syndrome

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

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

(2010) Ryan P. Hobbs et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy

(2010) A. H. Christensen et al.   JOURNAL OF MEDICAL GENETICS

Novel truncating mutations inPKP1andDSPcause similar skin phenotypes in two Brazilian families

(2009) A. Tanaka et al.   BRITISH JOURNAL OF DERMATOLOGY

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2009) Paul A. van der Zwaag et al.   HUMAN MUTATION

Desmoglein 1–dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis

(2009) Spiro Getsios et al.   JOURNAL OF CELL BIOLOGY

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

(2009) Angeliki Asimaki et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY