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

Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy

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

An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response

(2015) Madoka Kato et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

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

Ectodermal dysplasia-skin fragility syndrome: a novel mutation in thePKP1gene

(2015) A. Hernández-Martín et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

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

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

When Rare Illuminates Common: How Cardiocutaneous Syndromes Transformed Our Perspective on Arrhythmogenic Cardiomyopathy

(2014) Srijita Sen-Chowdhry et al.   CELL COMMUNICATION AND ADHESION

Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

(2014) P. D. Yesudian et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease

(2014) Kwesi Teye et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

Identification of the first nonsenseCDSNmutation with expression of a truncated protein causing peeling skin syndrome type B

(2013) A. Mallet et al.   BRITISH JOURNAL OF DERMATOLOGY

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

(2013) A. Vahlquist et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene

(2013) Akemi Ishida-Yamamoto et al.   EXPERIMENTAL DERMATOLOGY

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

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

(2011) Dana Fuchs Telem et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

(2011) Aaron E Boyce et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

(2011) H. Erken et al.   BRITISH JOURNAL OF DERMATOLOGY

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

(2011) M. Farooq et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

(2011) Manuela Pigors et al.   HUMAN MOLECULAR GENETICS

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

(2010) Sriram Krishnamurthy et al.   INDIAN JOURNAL OF PEDIATRICS

A New Hypo/Oligodontia Syndrome

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

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

(2010) Rita M. Cabral et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

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

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

(2010) Shirli Israeli 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

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

(2009) Muhammad Ayub et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel truncating mutations inPKP1andDSPcause similar skin phenotypes in two Brazilian families

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

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

(2009) M. Zamiri et al.   BRITISH JOURNAL OF DERMATOLOGY

Naxos disease presenting with ventricular tachycardia and troponin elevation

(2009) George Lazaros et al.   HEART AND VESSELS

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

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

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma

(2009) Martha B. Dua-Awereh et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY

Novel mutations inDSG1causing striate palmoplantar keratoderma

(2008) D. Hershkovitz et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY