PUBLICATION
Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis
- Authors
- van den Driesche, S., Mummery, C.L., and Westermann, C.J.J.
- ID
- ZDB-PUB-030722-3
- Date
- 2003
- Source
- Cardiovascular research 58(1): 20-31 (Review)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Zebrafish
- Signal Transduction/physiology*
- Antigens, CD
- Activin Receptors, Type II
- Telangiectasia, Hereditary Hemorrhagic/complications
- Telangiectasia, Hereditary Hemorrhagic/genetics
- Telangiectasia, Hereditary Hemorrhagic/metabolism*
- Receptors, Cell Surface
- Chromosomes, Human, Pair 9
- Humans
- Chromosomes, Human, Pair 12
- Mice
- Mice, Mutant Strains
- Vascular Cell Adhesion Molecule-1/genetics
- Mutation
- Neovascularization, Pathologic*
- Activin Receptors, Type I/genetics
- Hypertension, Pulmonary/complications
- Hypertension, Pulmonary/genetics
- Hypertension, Pulmonary/metabolism
- Transforming Growth Factor beta/metabolism*
- Animals
- PubMed
- 12667943 Full text @ Cardiovasc. Res.
Citation
van den Driesche, S., Mummery, C.L., and Westermann, C.J.J. (2003) Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovascular research. 58(1):20-31.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping