Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1-Reference-Cited by-同舟云学术

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Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

Published:2017-02-23 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Albiñana Virginia,Zafra Ma Paz,Colau Jorge,Zarrabeitia Roberto,Recio-Poveda Lucia,Olavarrieta Leticia,Pérez-Pérez Julián,Botella Luisa M.

Funder

Ministerio de Economia y Competitividad of Spain

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0380-0.pdf

Reference27 articles.

1. Geisthoff UW, Nguyen HL, Röth A, Seyfert U. How to manage patients with hereditary haemorrhagic telangiectasia. Br J Haematol. 2015;171:443–52. doi: 10.1111/bjh.13606 . Review.

2. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203–19. doi: 10.1016/j.blre .

3. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91:66–7.

4. Fernández-L A, Sanz-Rodriguez F, Blanco FJ, Bernabéu C, Botella LM. Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. Clin Med Res. 2006;4:66–78. Review.

5. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345–51.

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1. Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families;European Journal of Medical Genetics;2024-04

2. Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathway;2024-01-30

3. Multi-organ hereditary hemorrhagic telangiectasia: A case report;World Journal of Clinical Cases;2023-10-06

4. A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family;European Archives of Oto-Rhino-Laryngology;2023-08-21

5. Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia;Frontiers in Cell and Developmental Biology;2022-11-10

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