Keratins and skin disorders
Top Cited Papers
- 19 October 2004
- journal article
- review article
- Published by Wiley in The Journal of Pathology
- Vol. 204 (4) , 355-366
- https://doi.org/10.1002/path.1643
Abstract
The association of keratin mutations with genetic skin fragility disorders is now one of the best‐established examples of cytoskeleton disorders. It has served as a paradigm for many other diseases and has been highly informative for the study of intermediate filaments and their associated components, in helping to understand the functions of this large family of structural proteins. The keratin diseases have shown unequivocally that, at least in the case of the epidermal keratins, a major function of intermediate filaments is to provide physical resilience for epithelial cells. This review article reflects on the variety of phenotypes arising from mutations in keratins and the reasons for this variation. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.Keywords
This publication has 93 references indexed in Scilit:
- Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 geneBritish Journal of Dermatology, 2004
- An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis BarbaeJournal of Investigative Dermatology, 2004
- Comprehensive analysis of keratin gene clusters in humans and rodentsEuropean Journal of Cell Biology, 2004
- Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar KeratodermaJournal of Investigative Dermatology, 2002
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis HystrixJournal of Investigative Dermatology, 2001
- A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing MonilethrixHuman Heredity, 2000
- A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophyAmerican Journal of Ophthalmology, 1999
- Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1American Journal of Human Genetics, 1999
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2British Journal of Dermatology, 1998
- Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma MultiplexJournal of Investigative Dermatology, 1997