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Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E. Wang R, et al. Among authors: sato t, sato otsubo a. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25. Br J Haematol. 2015. PMID: 25424902 Free article.
Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Hanada I, Terui K, Ikeda F, Toki T, Kanezaki R, Sato T, Kamio T, Kudo K, Sasaki S, Takahashi Y, Hayashi Y, Inukai T, Kojima S, Koike K, Kosaka Y, Kobayashi M, Imaizumi M, Mitsui T, Hori H, Hara J, Horibe K, Nagai J, Goto H, Ito E. Hanada I, et al. Among authors: sato t. Genes Chromosomes Cancer. 2014 Nov;53(11):902-10. doi: 10.1002/gcc.22201. Epub 2014 Jul 16. Genes Chromosomes Cancer. 2014. PMID: 25044358
Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ.
Hiyama TY, Utsunomiya AN, Matsumoto M, Fujikawa A, Lin CH, Hara K, Kagawa R, Okada S, Kobayashi M, Ishikawa M, Anzo M, Cho H, Takayasu S, Nigawara T, Daimon M, Sato T, Terui K, Ito E, Noda M. Hiyama TY, et al. Among authors: sato t. Brain Pathol. 2017 May;27(3):323-331. doi: 10.1111/bpa.12409. Epub 2016 Aug 2. Brain Pathol. 2017. PMID: 27338632 Free PMC article.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E. Toki T, et al. Among authors: sato t, sato y, sato otsubo a. Am J Hum Genet. 2018 Sep 6;103(3):440-447. doi: 10.1016/j.ajhg.2018.07.020. Epub 2018 Aug 23. Am J Hum Genet. 2018. PMID: 30146126 Free PMC article.
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