Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders-Reference-Cited by-同舟云学术

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

Published:2018-02-08 Issue:8 Volume:27 Page:1421-1433
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Mizuguchi Takeshi¹,Nakashima Mitsuko²,Kato Mitsuhiro³,Okamoto Nobuhiko⁴,Kurahashi Hirokazu⁵,Ekhilevitch Nina⁶,Shiina Masaaki⁷,Nishimura Gen⁸,Shibata Takashi⁹,Matsuo Muneaki¹⁰,Ikeda Tae¹¹,Ogata Kazuhiro⁷,Tsuchida Naomi¹,Mitsuhashi Satomi¹,Miyatake Satoko¹¹²,Takata Atsushi¹,Miyake Noriko¹,Hata Kenichiro¹³,Kaname Tadashi¹⁴,Matsubara Yoichi¹⁵¹⁶,Saitsu Hirotomo²,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan

2. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

3. Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan

4. Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan

5. Department of Pediatrics, Aichi Medical University, Aichi 480-1195, Japan

6. The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel

7. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan

8. Center for Intractable Diseases, Saitama Medical University Hospital, Saitama 350-0495, Japan

9. Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan

10. Department of Pediatrics, Saga University Faculty of Medicine, Saga 849-8501, Japan

11. Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan

12. Clinical Genetics Department, Yokohama City University Hospital, Yokohama 236-0004, Japan

13. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

14. Department of Genome Medicine, National Center for Child Health and Development, Tokyo 157-8535, Japan

15. Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan

16. National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/8/1421/24527107/ddy052.pdf

Reference29 articles.

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4. Low affinity Ca2+-binding sites of calcineurin B mediate conformational changes in calcineurin A;Yang;Biochemistry,2000

5. Calcineurin: a central controller of signalling in eukaryotes;Aramburu;EMBO Rep,2004

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