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Keratins and skin disorders
Author(s) -
Lane EB,
McLean WHI
Publication year - 2004
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1643
Subject(s) - keratin , intermediate filament , phenotype , biology , cytoskeleton , keratin 8 , keratin 6a , pathological , keratin 7 , genetics , pathology , immunology , medicine , gene , cell , cytokeratin , immunohistochemistry
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.