Kindler Syndrome Pathogenesis and Fermitin Family Homologue 1 (Kindlin-1) Function

被引：23

作者：

D'Souza, Maria-Anna M. A. ^{[1
]}

Kimble, Roy M. ^{[1
]}

McMillan, James R. ^{[1
]}

机构：

[1] Univ Queensland, Queensland Childrens Med Res Inst, Childrens Ctr Burns Res, Brisbane, Qld 4029, Australia

来源：

DERMATOLOGIC CLINICS | 2010年 / 28卷 / 01期

关键词：

Genodermatosis; Keratinocyte adhesion; Keratinocyte proliferation; Signaling; Focal contact; Fermitin family homologue 1 (FFH1); Ultrastructure; INTEGRIN ACTIVATION; PROTEIN; GENE; MUTATIONS; ADHESION; DISORDER; NONSENSE; BETA;

D O I：

10.1016/j.det.2009.10.012

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Kindler syndrome is caused by genetic defects in the focal contact-associated protein, fermitin family homologue 1 (FFH1), encoded by the gene FERMT1 (known as KIND1). Defects in FFH1 lead to abnormal integrin activation and loss of keratinocyte epidermal adhesion to the underlying basal lamina, disruption in normal cell cytoskeleton within keratinocytes, and altered signaling pathways, leading to increased extracellular matrix production. Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer. The complete range of FFH1 functions in skin and other epithelia has yet to be determined.

引用

页码：115 / +

页数：6

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