De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Author:

Toki Tsutomu,Yoshida Kenichi,Wang RuNan,Nakamura Sou,Maekawa Takanobu,Goi Kumiko,Katoh Megumi C.,Mizuno Seiya,Sugiyama Fumihiro,Kanezaki Rika,Uechi Tamayo,Nakajima Yukari,Sato Yusuke,Okuno Yusuke,Sato-Otsubo Aiko,Shiozawa Yusuke,Kataoka Keisuke,Shiraishi Yuichi,Sanada Masashi,Chiba Kenichi,Tanaka Hiroko,Terui Kiminori,Sato Tomohiko,Kamio Takuya,Sakaguchi Hirotoshi,Ohga Shouichi,Kuramitsu Madoka,Hamaguchi Isao,Ohara Akira,Kanno Hitoshi,Miyano Satoru,Kojima Seiji,Ishiguro Akira,Sugita Kanji,Kenmochi Naoya,Takahashi Satoru,Eto Koji,Ogawa Seishi,Ito Etsuro

Funder

Practical Research Project for Rare/Intractable Diseases

Japan Agency for Medical Research and Development

Ministry of Health, Labour, and Welfare of Japan (Research on Measures for Intractable Diseases)

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Bessler, M., Masson, P.J., Link, D.C., and Wilson, D.B. Inherited bone marrow failure syndrome. In Nathan and Oski’s Hematology of Infancy and Childhood, 7th edition. S.H. Orkin, D.G. Nathan, D. Ginsburg, A.T. Look, D.E. Fisher, and S.E. Lux, eds. (W.B. Saunders), pp. 307–395.

2. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells;Dutt;Blood,2011

3. Bone marrow failure and the telomeropathies;Townsley;Blood,2014

4. Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference;Vlachos;Br. J. Haematol.,2008

5. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia;Sankaran;J. Clin. Invest.,2012

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