- Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathwayAfrica Fernandez-L
Centro de Investigaciones Biologicas CSIC, Ramiro de Maeztu, 9, Madrid 28040, Spain
Clin Med Res 4:66-78. 2006....
- Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesionsAfrica Fernandez-L
Centro de Investigaciones Biologicas, CSIC, Ramiro de Maeztu, 9. Madrid, Spain
Cardiovasc Res 68:235-48. 2005..These features may lead to fragility of small vessels and bleeding characteristic of the HHT vascular dysplasia and to a disrupted and abnormal angiogenesis, which may explain the clinical symptoms associated with this disease...
- Mutation study of Spanish patients with hereditary hemorrhagic telangiectasiaAna Fontalba
Centro de Investigaciones Biologicas, CSIC, Ramiro de Maeztu, 9, Madrid 28040, Spain
BMC Med Genet 9:75. 2008..Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes...
- Gene expression fingerprinting for human hereditary hemorrhagic telangiectasiaAfrica Fernandez L
Centro de Investigaciones Biologicas, CSIC, Madrid, Spain, 2 Center for Biomedical Research on Rare Diseases CIBERER, Madrid, Spain
Hum Mol Genet 16:1515-33. 2007..Moreover, as the disease is originated by mutations in proteins of the TGF-beta receptor complex, these results may be useful to find out targets of the TGF-beta pathway in endothelium...