Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds-Reference-Cited by-同舟云学术

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Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Published:2001-04 Issue:4 Volume:116 Page:606-609
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Hatsell Sarah J.,Leigh Irene M.,Kelsell David P.,Eady Robin A.,Wennerstrand Lena,Dopping-Hepenstal Patricia,Munro Colin

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference16 articles.

1. A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases;Candi;Proc Natl Acad Sci USA,1998

2. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes;Cheng;Cell,1992

3. A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis;Chipev;Cell,1992

4. Human keratin diseases: hereditary fragility of specific epithelial tissues;Corden;Exp Dermatol,1996

5. Clinical heterogeneity in epidermolytic hyperkeratosis;DiGiovanna;Arch Dermatol,1994

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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings;Journal of the European Academy of Dermatology and Venereology;2023-07-20

3. Grainyhead‐like transcription factors: guardians of the skin barrier;Veterinary Dermatology;2021-04-12

4. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review;Molecular Genetics & Genomic Medicine;2019-09-16

5. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma;Clinical and Experimental Dermatology;2018-10-04

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