A Novel Genodermatosis Caused by Mutations in Plakophilin 1, A Structural Component of Desmosomes

Author:

McGrath John A.1

Affiliation:

1. Department of Cell and Molecular Pathology; St. John's Institute of Dermatology, St Thomas' Hospital; Lambeth Palace Road London SE1 7EH England

Funder

The Special Trustees for St Thomas' Hospital

Dystrophic Epidermolysis Bullosa Research Association

The Wellcome Trust

Publisher

Wiley

Subject

Dermatology,General Medicine

Reference20 articles.

1. Desmosomes and hemidesmosomes;Garrod;Curr Opin Cell Biol,1993

2. Cytoskeleton-membrane interactions;Cowin;Curr Opin Cell Biol,1996

3. Epithelial development and differentiation: The role of desmosomes;Garrod;J Roy Coll Phys Lond,1996

4. Desmosomes and hemidesmosomes: Structure and function of molecular components;Green;FASEB J,1996

5. Defining the interactions between intermediate filaments and desmosomes;Smith;J Cell Biol,1998

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1. Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children;International Journal of Molecular Sciences;2022-11-18

2. Hereditary and Congenital Nail Disorders;Baran & Dawber's Diseases of the Nails and their Management;2018-12-07

3. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa;Pediatric Dermatology;2018-01-15

4. Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo;Journal of Investigative Dermatology;2016-07

5. Hereditary and Congenital Nail Disorders;Baran & Dawber's Diseases of the Nails and their Management;2012-05-23

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