title: The pathobiology of vascular malformations: insights from human and model organism genetics.
abstract: 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 © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
authors.affiliation: Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Wetzel-Strong
authors.affiliation: Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.|Medical Scientist Training Program, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Detter
authors.affiliation: Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.
authors.forename: Douglas A
authors.initials: DA
authors.lastname: Marchuk
mesh_terms: D000818:Animals; D042783:Endothelial Cells / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D023421:Models, Animal; D030781:Organisms, Genetically Modified; D053781:Transforming Growth Factor beta2 / Q000378:metabolism*; D054079:Vascular Malformations / Q000473:pathology* / Q000503:physiopathology*
chemical_list: C509041:TGFB2 protein, human; D053781:Transforming Growth Factor beta2
keywords: CADASIL/CARASIL; Klippel-Trenaunay syndrome; Loeys-Dietz syndrome; Parkes Weber syndrome; Sturge-Weber syndrome; arterial tortuosity syndrome; blue rubber bleb naevus syndrome; capillary malformation-arteriovenous malformation; cerebral cavernous malformation; glomuvenous malformations; hereditary haemorrhagic telangiectasia; moyamoya disease; venous malformations