Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm-Reference-Cited by-同舟云学术

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Published:2012-07-08 Issue:8 Volume:44 Page:922-927
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lindsay Mark E,Schepers Dorien,Bolar Nikhita Ajit,Doyle Jefferson J,Gallo Elena,Fert-Bober Justyna,Kempers Marlies J E,Fishman Elliot K,Chen Yichun,Myers Loretha,Bjeda Djahita,Oswald Gretchen,Elias Abdallah F,Levy Howard P,Anderlid Britt-Marie,Yang Margaret H,Bongers Ernie M H F,Timmermans Janneke,Braverman Alan C,Canham Natalie,Mortier Geert R,Brunner Han G,Byers Peter H,Van Eyk Jennifer,Van Laer Lut,Dietz Harry C,Loeys Bart L

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2349.pdf

Reference31 articles.

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2. Rahimi, R.A. & Leof, E.B. TGF-β signaling: a tale of two responses. J. Cell. Biochem. 102, 593–608 (2007).

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

4. Isogai, Z. et al. Latent transforming growth factor β–binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J. Biol. Chem. 278, 2750–2757 (2003).

5. Chaudhry, S.S. et al. Fibrillin-1 regulates the bioavailability of TGFβ1. J. Cell Biol. 176, 355–367 (2007).

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