Keratins and skin disorders

被引：169

作者：

Lane, EB

McLean, WHI

机构：

[1] Univ Dundee, Sch Life Sci, Div Cell & Dev Biol, Canc Res UK Cell Struct Res Grp, Dundee DD1 5EH, Scotland

[2] Univ Dundee, Ninewells Hosp & Med Sch, Div Pathol & Neurosci, Epithelial Genet Grp, Dundee DD1 9SY, Scotland

来源：

JOURNAL OF PATHOLOGY | 2004年 / 204卷 / 04期

关键词：

keratin intermediate filaments; genodermatoses; K5/K14; epidermolysis bullosa simplex; bullous congenital ichthyosiform erythroderma; pachyonychia congenita;

D O I：

10.1002/path.1643

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 (C) 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley Sons, Ltd.

引用

收藏

页码：355 / 366

页数：12

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