Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

Details

Serval ID
serval:BIB_8E869435C563
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
Journal
Science
Author(s)
Rothnagel  J. A., Dominey  A. M., Dempsey  L. D., Longley  M. A., Greenhalgh  D. A., Gagne  T. A., Huber  M., Frenk  E., Hohl  D., Roop  D. R.
ISSN
0036-8075 (Print)
Publication state
Published
Issued date
08/1992
Volume
257
Number
5073
Pages
1128-30
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Aug 21
Abstract
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected, although filament assembly and elongation would be severely compromised. These data imply that an intact keratin intermediate filament network is required for the maintenance of both cellular and tissue integrity.
Keywords
Amino Acid Sequence Base Sequence DNA/chemistry Humans Ichthyosiform Erythroderma, Congenital/*genetics Keratins/chemistry/*genetics Macromolecular Substances Molecular Sequence Data *Mutation Pedigree Polymerase Chain Reaction Protein Conformation
Pubmed
Web of science
Create date
25/01/2008 16:36
Last modification date
20/08/2019 14:52
Usage data