A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2-Reference-Cited by-同舟云学术

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Published:2005-01-30 Issue:3 Volume:37 Page:275-281
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Loeys Bart L,Chen Junji,Neptune Enid R,Judge Daniel P,Podowski Megan,Holm Tammy,Meyers Jennifer,Leitch Carmen C,Katsanis Nicholas,Sharifi Neda,Xu F Lauren,Myers Loretha A,Spevak Philip J,Cameron Duke E,Backer Julie De,Hellemans Jan,Chen Yan,Davis Elaine C,Webb Catherine L,Kress Wolfram,Coucke Paul,Rifkin Daniel B,De Paepe Anne M,Dietz Harry C

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1511.pdf

Reference26 articles.

1. Annes, J.P., Munger, J.S. & Rifkin, D.B. Making sense of latent TGFbeta activation. J. Cell Sci. 116, 217–224 (2003).

2. ten Dijke, P. & Hill, C.S. New insights into TGF-beta-Smad signalling. Trends Biochem. Sci. 29, 265–273 (2004).

3. Cohen, M.M. Jr. TGF beta/Smad signaling system and its pathologic correlates. Am. J. Med. Genet. 116A, 1–10 (2003).

4. Mizuguchi, T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36, 855–860 (2004).

5. Dietz, H.C. et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337–339 (1991).

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