title: Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder in humans which has been mapped to two genes, endoglin and activin receptor-like kinase-1 (ALK-1) both of which mediate signaling by transforming growth factor beta ligands in vascular endothelial cells. Animal models have shown that these receptors are not only important for maintaining vascular integrity but also for angiogenesis both during embryonic development and during tumor growth. Here, we review the current status of reported mutations in the context of the clinical manifestations and the effects on the vessel wall both in patients and in animal models of the disease.
authors.affiliation: Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Utrecht, The Netherlands.
authors.forename: Sander
authors.initials: S
authors.lastname: van den Driesche
authors.forename: Christine L
authors.initials: CL
authors.lastname: Mummery
authors.forename: Cornelius J J
authors.initials: CJ
authors.lastname: Westermann
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics; D030301:Activin Receptors, Type II; D000818:Animals; D015703:Antigens, CD; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D000071063:Endoglin; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D009389:Neovascularization, Pathologic; D011956:Receptors, Cell Surface; D015398:Signal Transduction / Q000502:physiology*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D016212:Transforming Growth Factor beta / Q000378:metabolism*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics; D015027:Zebrafish
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D016212:Transforming Growth Factor beta; D019010:Vascular Cell Adhesion Molecule-1; C425364:ACVRL1 protein, human; D030201:Activin Receptors, Type I; D030301:Activin Receptors, Type II; C498931:Acvrl1 protein, mouse