The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
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.
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Citations
Cites
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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
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Cited by
A Structural Scaffolding of Intermediate Filaments in Health and Disease
Fuchs, E., & Cleveland, D. W. (1998) · Science · doi:10.1126/science.279.5350.514 · Cited by 1,012
Stratum Corneum Defensive Functions: An Integrated View
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Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.
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Metadata
- Authors
- 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.
- Venue
- Science
- Published
- 1992-08-21
- Volume
- 257
- Issue
- 5073
- Pages
- 1128-1130
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2012747226
- Cited by
- 368
- References
- 26
- FWCI
- 14.92
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis. https://app.cochat.ai/papers/10.1126/science.257.5073.1128
- The paper
- 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. (1992). Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis. Science. https://doi.org/10.1126/science.257.5073.1128
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
