Version 1
: Received: 12 April 2024 / Approved: 15 April 2024 / Online: 15 April 2024 (10:42:19 CEST)
How to cite:
Y, A.; Shabani, Z.; Dhaliwal, J.K.; Schmidt, A.; Su, H. "Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies". Preprints2024, 2024040949. https://doi.org/10.20944/preprints202404.0949.v1
Y, A.; Shabani, Z.; Dhaliwal, J.K.; Schmidt, A.; Su, H. "Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies". Preprints 2024, 2024040949. https://doi.org/10.20944/preprints202404.0949.v1
Y, A.; Shabani, Z.; Dhaliwal, J.K.; Schmidt, A.; Su, H. "Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies". Preprints2024, 2024040949. https://doi.org/10.20944/preprints202404.0949.v1
APA Style
Y, A., Shabani, Z., Dhaliwal, J.K., Schmidt, A., & Su, H. (2024). "Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies". Preprints. https://doi.org/10.20944/preprints202404.0949.v1
Chicago/Turabian Style
Y, A., Annika Schmidt and Hua Su. 2024 ""Recent Advances in Hereditary Hemorrhagic Telangiectasia Pathogenesis and Therapies"" Preprints. https://doi.org/10.20944/preprints202404.0949.v1
Abstract
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and inherited vascular disorder, characterized by the development of arteriovenous malformations (AVMs) in various organs and telangiectasia (small AVM) in the mucocutaneous. The majority of HHT patients have haploinsufficiency of genes involved in the transforming growth factor-beta (TGFβ) signaling pathway, including endoglin (ENG), activin receptor-like kinase 1 (ALK1, also known as ACVRL1), or SMAD4. Active angiogenesis is also required for telangiectasia and AVM development. Anti-angiogenic strategies have been tested in patients and animal models extensively. However, the exact mechanisms for telangiectasia and AVM development remain unclear. In this review, we discuss recent advances in identifying disease mechanisms, and potential therapeutic targets.
Biology and Life Sciences, Biology and Biotechnology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
