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

Confirming the recessive inheritance of PERP ‐related erythrokeratoderma

(2020) Nisha Patel et al.   CLINICAL GENETICS

Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities

(2020) A. Oktem et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP

(2019) S. Dai et al.   BRITISH JOURNAL OF DERMATOLOGY

Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis

(2019) Alexandros Onoufriadis et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans

(2018) E Cohen-Barak et al.   ACTA DERMATO-VENEREOLOGICA

Desmosomes in Human Disease

(2018) Nicole A. Najor   Annual Review of Pathology-Mechanisms of Disease

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

(2018) D. Vodo et al.   BRITISH JOURNAL OF DERMATOLOGY

SAM syndrome is characterized by extensive phenotypic heterogeneity

(2018) Shahar Taiber et al.   EXPERIMENTAL DERMATOLOGY

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

(2018) John Y.W. Lee et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa

(2018) Jong Hoon Kim et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma

(2018) T. Nomura et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Mutations in PERP Cause Dominant and Recessive Keratoderma

(2018) Sabine Duchatelet et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation inJUP

(2016) M. del C. Boente et al.   BRITISH JOURNAL OF DERMATOLOGY

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation

(2016) Ruhong Cheng et al.   JOURNAL OF DERMATOLOGY

Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy

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

Dominantde novo DSPmutations cause erythrokeratodermia-cardiomyopathy syndrome

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

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

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

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

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

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

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

Netherton syndrome: skin inflammation and allergy by loss of protease inhibition

(2013) Alain Hovnanian   CELL AND TISSUE RESEARCH

Structural and Functional Diversity of Desmosomes

(2013) Robert M. Harmon et al.   CELL COMMUNICATION AND ADHESION

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

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

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

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

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

(2011) Manuela Pigors et al.   HUMAN MOLECULAR GENETICS

Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis

(2011) Cory L. Simpson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation

(2010) Aimee S. Payne   AMERICAN JOURNAL OF HUMAN 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

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin

(2010) Cécile Caubet et al.   FASEB JOURNAL

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

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

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

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

Ectodermal Dysplasia-Skin Fragility Syndrome

(2009) John A. McGrath et al.   DERMATOLOGIC CLINICS

Desmocollin 3-mediated Binding Is Crucial for Keratinocyte Cohesion and Is Impaired in Pemphigus

(2009) Volker Spindler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Disadhesion of epidermal keratinocytes: A histologic clue to palmoplantar keratodermas caused by DSG1 mutations

(2009) Reuven Bergman et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

The Desmosome

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

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

Loss of desmocollin 3 in mice leads to epidermal blistering

(2008) J. Chen et al.   JOURNAL OF CELL SCIENCE

Plakophilin-3-Deficient Mice Develop Hair Coat Abnormalities and Are Prone to Cutaneous Inflammation

(2007) Tatyana Sklyarova et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY