Loss of function mutations inRPL27andRPS27identified by whole-exome sequencing in Diamond-Blackfan anaemia-Reference-Cited by-同舟云学术

Loss of function mutations inRPL27andRPS27identified by whole-exome sequencing in Diamond-Blackfan anaemia

Published:2014-11-25 Issue:6 Volume:168 Page:854-864
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Wang RuNan¹,Yoshida Kenichi²³,Toki Tsutomu¹,Sawada Takafumi⁴,Uechi Tamayo⁴,Okuno Yusuke²³,Sato-Otsubo Aiko²³,Kudo Kazuko⁵,Kamimaki Isamu⁶,Kanezaki Rika¹,Shiraishi Yuichi⁷,Chiba Kenichi⁷,Tanaka Hiroko⁸,Terui Kiminori¹,Sato Tomohiko¹,Iribe Yuji⁹,Ohga Shouichi¹⁰,Kuramitsu Madoka¹¹,Hamaguchi Isao¹¹,Ohara Akira¹²,Hara Junichi¹³,Goi Kumiko¹⁴,Matsubara Kousaku¹⁵,Koike Kenichi¹⁶,Ishiguro Akira¹⁷,Okamoto Yasuhiro¹⁸,Watanabe Kenichiro¹⁹,Kanno Hitoshi⁹,Kojima Seiji²⁰,Miyano Satoru⁷⁸,Kenmochi Naoya⁴,Ogawa Seishi²³,Ito Etsuro¹

Affiliation:

1. Department of Paediatrics; Hirosaki University Graduate School of Medicine; Hirosaki Japan

2. Cancer Genomics Project; Graduate School of Medicine; The University of Tokyo; Tokyo Japan

3. Department of Pathology and Tumour Biology; Graduate School of Medicine; Kyoto University; Kyoto Japan

4. Frontier Science Research Centre; University of Miyazaki; Miyazaki Japan

5. Division of Haematology and Oncology; Shizuoka Children's Hospital; Shizuoka Japan

6. Department of Paediatrics; Saitama National Hospital; Wako Japan

7. Laboratory of DNA Information Analysis; Human Genome Centre; Institute of Medical Science; The University of Tokyo; Tokyo Japan

8. Laboratory of Sequence Analysis; Human Genome Centre; Institute of Medical Science; The University of Tokyo; Tokyo Japan

9. Department of Transfusion Medicine and Cell Processing; Tokyo Women's Medical University; Tokyo Japan

10. Department of Perinatal and Paediatric Medicine; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan

11. Department of Safety Research on Blood and Biological Products; National Institute of Infectious Diseases; Tokyo Japan

12. Department of Transfusion; Omori Hospital; Toho University; Tokyo Japan

13. Department of Haematology and Oncology; Osaka City General Hospital; Osaka Japan

14. Department of Paediatrics; University of Yamanashi; Kofu Japan

15. Department of Paediatrics; Nishi-Kobe Medical Centre; Kobe Japan

16. Department of Paediatrics; Shinshu University School of Medicine; Matsumoto Japan

17. Division of Haematology; National Centre for Child Health and Development; Tokyo Japan

18. Department of Paediatrics; Kagoshima University; Kagoshima Japan

19. Department of Paediatrics; Graduate School of Medicine; Kyoto University; Kyoto Japan

20. Department of Paediatrics; Nagoya University Graduate School of Medicine; Nagoya Japan

Funder

The Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.13229/fullpdf

Reference32 articles.

1. Impaired ribosome biogenesis in Diamond-Blackfan anemia;Choesmel;Blood,2007

2. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia;Cmejla;Human Mutation,2007

3. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia;Doherty;The American Journal of Human Genetics,2010

4. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia;Draptchinskaia;Nature Genetics,1999

5. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen;Ebert;Nature,2008

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