Article
Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.
Clinical medicine & research - 1 Mar 2006
Fernández-L Africa, Sanz-Rodriguez Francisco, Blanco Francisco J, Bernabéu Carmelo, Botella Luisa M
Abstract excerpt
Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor...
Topics
- Activin Receptors, Type I
- Activin Receptors, Type II
- Animals
- Antigens, CD
- Cell Movement
- Cell Proliferation
- Cytoskeleton
- Endoglin
- Endothelium, Vascular
- Humans
- Mice
- Mice, Knockout
- Mutation
- Neovascularization, Pathologic