Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia
Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated b...
| Authors: | , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2017 |
| Country: | España |
| Institution: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repository: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/155101 |
| Online Access: | http://hdl.handle.net/10261/155101 |
| Access Level: | Open access |
| Keyword: | HHT Endoglin ALK1 Haploinsufficiency Bleeding Angiogenesis AVM Bevacizumab Thalidomide |
| Summary: | Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level. |
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