Involvement of the TGF-beta superfamily signalling pathway in hereditary haemorrhagic telangiectasia
| Autor: | Luisa María Botella, Carmelo Bernabeu, Eva M. Garrido-Martin, Carmen Langa, Francisco J. Blanco |
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| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty transforming growth factor Health Toxicology and Mutagenesis Biomedical Engineering GDF2 hereditary haemorrhagic telangiectasia SMAD Telangiectases ALK1 Biology General Biochemistry Genetics and Molecular Biology Anti-fibrinolytic agents Artificial Intelligence medicine otorhinolaryngologic diseases General Pharmacology Toxicology and Pharmaceutics Smad endoglin General Immunology and Microbiology Kinase General Neuroscience ACVRL1 General Medicine Endoglin Hedgehog signaling pathway endothelial cells General Agricultural and Biological Sciences Transforming growth factor estrogens |
| Zdroj: | Digital.CSIC: Repositorio Institucional del CSIC Consejo Superior de Investigaciones Científicas (CSIC) |
| DOI: | 10.2478/v10136-009-0020-x |
| Popis: | 9 páginas, 2 figuras, 1 tabla -- PAGS nros. 169-177 Hereditary haemorrhagic telangiectasia (HHT) is a vascular hereditary autosomic dominant disease associatedwith epistaxis, telangiectases, gastrointestinal haemorrhages and arteriovenous malformations in lung, liverand brain. It affects 1–2 in 10,000 people. There are at least three different genes mutated in HHT, ENG,ACVRL1 and MADH4 that encode endoglin, activin receptor-like kinase (ALK1) and Smad4 proteins,respectively. These proteins are involved in the transforming growth factor (TGF)-β superfamily signallingpathway of vascular endothelial cells. Mutations in ENG (HHT1) and ACVRL1 (HHT2) account for more than90% of all HHT mutations. In this article, we review the underlying molecular and cellular bases and thetherapeutic approaches that have been addressed in our laboratory in recent years |
| Databáze: | OpenAIRE |
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