A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication-Reference-Cited by-同舟云学术

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Published:2018-09-21 Issue:1 Volume:16 Page:
ISSN:1479-5876
Container-title:Journal of Translational Medicine
language:en
Short-container-title:J Transl Med

Author:

Hong Nanchao,Zhang Erge,Wang Qingjie,Zhang Xiaoqing,Li Fen,Fu Qihua,Xu Rang,Yu Yu,Chen Sun,Xu Yuejuan,Sun Kun

Funder

grant from the National Natural Science Foundation of China

grant from Shanghai Municipal Commission of Health and Family Planning

grant from Shanghai Hospital Development Center

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12967-018-1633-1.pdf

Reference40 articles.

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2. Johnson TR. Conotruncal cardiac defects: a clinical imaging perspective. Pediatr Cardiol. 2010;31:430–7.

3. O’Malley CD, Shaw GM, Wasserman CR, Lammer EJ. Epidemiologic characteristics of conotruncal heart defects in California, 1987–1988. Teratology. 1996;53:374–7.

4. Xu Y, Fang S, Zhang E, Pu T, Cao R, Fu Q, et al. A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity. Sci Rep. 2017;7:44165.

5. Lindsay EA. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001;2(11):858–68.

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