Title |
Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
|
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Published in |
Science, August 1992
|
DOI | 10.1126/science.257.5073.1128 |
Pubmed ID | |
Authors |
J. A. Rothnagel, A. M. Dominey, L. D. Dempsey, M. A. Longley, D. A. Greenhalgh, T. A. Gagne, M. Huber, E. Frenk, D. Hohl, D. R. Roop |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 27 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 19% |
Student > Doctoral Student | 4 | 15% |
Student > Ph. D. Student | 4 | 15% |
Student > Postgraduate | 1 | 4% |
Other | 1 | 4% |
Other | 2 | 7% |
Unknown | 10 | 37% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 5 | 19% |
Agricultural and Biological Sciences | 5 | 19% |
Medicine and Dentistry | 5 | 19% |
Chemistry | 1 | 4% |
Unknown | 11 | 41% |