The pathobiology of vascular malformations: insights from human and model organism genetics

被引：58

作者：

Wetzel-Strong, Sarah E. ^{[1
]}

Detter, Matthew R. ^{[1
,2
]}

Marchuk, Douglas A. ^{[1
]}

机构：

[1] Duke Univ, Sch Med, Dept Mol Genet & Microbiol, 265 CARL Bldg,Box 3175 DUMC, Durham, NC 27710 USA

[2] Duke Univ, Sch Med, Med Scientist Training Program, Durham, NC 27710 USA

来源：

JOURNAL OF PATHOLOGY | 2017年 / 241卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Sturge-Weber syndrome; Klippel-Trenaunay syndrome; Parkes Weber syndrome; capillary malformation-arteriovenous malformation; cerebral cavernous malformation; moyamoya disease; hereditary haemorrhagic telangiectasia; CADASIL/CARASIL; arterial tortuosity syndrome; Loeys-Dietz syndrome; glomuvenous malformations; venous malformations; blue rubber bleb naevus syndrome; HEREDITARY HEMORRHAGIC TELANGIECTASIA; CEREBRAL CAVERNOUS MALFORMATIONS; ARTERIAL-TORTUOSITY-SYNDROME; SMALL-VESSEL DISEASE; THORACIC AORTIC-ANEURYSM; STURGE-WEBER-SYNDROME; SMOOTH-MUSCLE-CELLS; MICE LACKING RNF213; BLEB NEVUS SYNDROME; TGF-BETA RECEPTOR;

D O I：

10.1002/path.4844

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations. Copyright (C) 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

引用

收藏

页码：281 / 293

页数：13

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