The keratins and their disorders

被引：34

作者：

Rugg, EL ^{[1
]}

Leigh, IM

机构：

[1] Univ Calif Irvine, Dept Dermatol, Irvine, CA 92697 USA

[2] Canc Res UK Skin Tumour Lab, London, England

[3] QMUL, Barts & London Sch Med & Dent, London, England

[4] Barts & London NHS Trust, London, England

[5] N E London Canc Res Network, London, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2004年 / 131C卷 / 01期

关键词：

keratin; epidermolysis; hyperkeratosis; palmoplantar; keratoderma;

D O I：

10.1002/ajmg.c.30029

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are characterized by a loss of structural integrity in the cells expressing those keratins in vivo. This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa. (C) 2004 Wiley-Liss, Inc.

引用

页码：4 / 11

页数：8

共 74 条

[1]

Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide [J].