Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin-Reference-Cited by-同舟云学术

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Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

Published:2006-03 Issue:3 Volume:126 Page:607-613
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Terron-Kwiatkowski Ana,van Steensel Maurice A.M.,van Geel Michel,Lane E. Birgitte,McLean W.H. Irwin,Steijlen Peter M

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference34 articles.

1. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines;Albers;J Cell Biol,1987

2. Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line;Boukamp;J Cell Biol,1988

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

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

5. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3bp insertion in the keratin 9 helix termination motif;Coleman;Br J Dermatol,1999

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