Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients-Reference-Cited by-同舟云学术

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

Published:2008-02-20 Issue:6 Volume:16 Page:742-749
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lesca Gaetan, ,Genin Emmanuelle,Blachier Claire,Olivieri Carla,Coulet Florence,Brunet Guy,Dupuis-Girod Sophie,Buscarini Elisabetta,Soubrier Florent,Calender Alain,Danesino Cesare,Giraud Sophie,Plauchu Henri

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg20083.pdf

Reference23 articles.

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2. McAllister KA, Grogg KM, Johnson DW et al: Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345–351.

3. Johnson DW, Berg JN, Gallione CJ et al: A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995; 5: 21–28.

4. Oh SP, Seki T, Goss KA et al: Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci USA 2000; 97: 2626–2631.

5. Goumans MJ, Valdimarsdottir G, Itoh S, Rosendahl A, Sideras P, ten Dijke P : Balancing the activation state of the endothelium via two distinct TGF-β type I receptors. EMBO J 2002; 21: 1743–1753.

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