Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia

Bernabéu, C., Blanco, F. J., Langa, C., Garrido-Martin, E. M. and Botella, L. M. (2010) Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia. Journal of Applied Biomedicine, 8(3), pp. 169-177. (doi:10.2478/v10136-009-0020-x)

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Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a vascular hereditary autosomic dominant disease associated with epistaxis, telangiectases, gastrointestinal haemorrhages and arteriovenous malformations in lung, liver and 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 signalling pathway of vascular endothelial cells. Mutations in ENG (HHT1) and ACVRL1 (HHT2) account for more than 90% of all HHT mutations. In this article, we review the underlying molecular and cellular bases and the therapeutic approaches that have been addressed in our laboratory in recent years.

Item Type:Articles (Other)
Keywords:Transforming growth factor; endothelial cells; hereditary haemorrhagic telangiectasia; endoglin; ALK1; Smad; anti-fibrinolytic agents; estrogens
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Blanco Lopez, Dr Francisco-Javie
Authors: Bernabéu, C., Blanco, F. J., Langa, C., Garrido-Martin, E. M., and Botella, L. M.
Subjects:Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH345 Biochemistry
Q Science > QH Natural history > QH426 Genetics
Q Science > QP Physiology
College/School:College of Medical Veterinary and Life Sciences > Institute of Cardiovascular and Medical Sciences
Journal Name:Journal of Applied Biomedicine
Journal Abbr.:J Appl Biomed
Publisher:University of South Bohemia: Faculty of Health and Social Studies
ISSN:1214-021X
ISSN (Online):1214-0287
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