Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm-Reference-Cited by-同舟云学术

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Published:2012-09-30 Issue:11 Volume:44 Page:1249-1254
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Doyle Alexander J,Doyle Jefferson J,Bessling Seneca L,Maragh Samantha,Lindsay Mark E,Schepers Dorien,Gillis Elisabeth,Mortier Geert,Homfray Tessa,Sauls Kimberly,Norris Russell A,Huso Nicholas D,Leahy Dan,Mohr David W,Caulfield Mark J,Scott Alan F,Destrée Anne,Hennekam Raoul C,Arn Pamela H,Curry Cynthia J,Van Laer Lut,McCallion Andrew S,Loeys Bart L,Dietz Harry C

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2421.pdf

Reference54 articles.

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2. Loeys, B.L. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37, 275–281 (2005).

3. Habashi, J.P. et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312, 117–121 (2006).

4. Holm, T.M. et al. Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 332, 358–361 (2011).

5. Loeys, B.L. et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N. Engl. J. Med. 355, 788–798 (2006).

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