Research Topics
Species | Africa Fernandez-LSummaryCountry: Spain Publications
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Detail Information
Publications
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...
