De novo SOX11 mutations cause Coffin–Siris syndrome-Reference-Cited by-同舟云学术

De novo SOX11 mutations cause Coffin–Siris syndrome

Published:2014-06-02 Issue:1 Volume:5 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Tsurusaki Yoshinori,Koshimizu Eriko,Ohashi Hirofumi,Phadke Shubha,Kou Ikuyo,Shiina Masaaki,Suzuki Toshifumi,Okamoto Nobuhiko,Imamura Shintaro,Yamashita Michiaki,Watanabe Satoshi,Yoshiura Koh-ichiro,Kodera Hirofumi,Miyatake Satoko,Nakashima Mitsuko,Saitsu Hirotomo,Ogata Kazuhiro,Ikegawa Shiro,Miyake Noriko,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms5011.pdf

Reference26 articles.

1. Ronan, J. L., Wu, W. & Crabtree, G. R. From neural development to cognition: unexpected roles for chromatin. Nat. Rev. Genet. 14, 347–359 (2013).

2. Tsurusaki, Y. et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat. Genet. 44, 376–378 (2012).

3. Tsurusaki, Y. et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin. Genet. 85, 548–554 (2014).

4. Santen, G. W. E. et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat. Genet. 44, 379–380 (2012).

5. Santen, G. W. E. et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum. Mutat. 34, 1519–1528 (2013).

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