論文 - 金崎 里香
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Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
Sato T, Yoshida K, Toki T, Kanezaki R, Terui K, Saiki R, Ojima M, Ochi Y, Mizuno S, Yoshihara M, Uechi T, Kenmochi N, Tanaka S, Matsubayashi J, Kisai K, Kudo K, Yuzawa K, Takahashi Y, Tanaka T, Yamamoto Y, Kobayashi A, Kamio T, Sasaki S, Shiraishi Y, Chiba K, Tanaka H, Muramatsu H, Hama A, Hasegawa D, Sato A, Koh K, Karakawa S, Kobayashi M, Hara J, Taneyama Y, Imai C, Hasegawa D, Fujita N, Yoshitomi M,Iwamoto S, Yamato G, Saida S, Kiyokawa N, Deguchi T, Ito M, Matsuo H, Adachi S, Hayashi Y, Taga T, Saito AM, Horibe K, Watanabe K, Tomizawa D, Miyano S, Takahashi S, Ogawa S, Ito E.
Blood 143 ( 25 ) 2627 - 2643 2024年06月
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Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.
Kanezaki R, Toki T, Terui K, Sato T, Kobayashi A, Kudo K, Kamio T, Sasaki S, Kawaguchi K, Watanabe K, Ito E
Scientific reports 12 ( 1 ) 20587 - 20587 2022年11月
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Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia
Rika Kanezaki, Tsutomu Toki, Kiminori Terui, Gang Xu, RuNan Wang, Akira Shimada, Asahito Hama, Hirokazu Kanegane, Kiyoshi Kawakami, Mikiya Endo, Daisuke Hasegawa, Kazuhiro Kogawa, Souichi Adachi, Yasuhiko Ikeda, Shotaro Iwamoto, Takashi Taga, Yoshiyuki Kosaka, Seiji Kojima, Yasuhide Hayashi, Etsuro Ito
Blood 116 ( 22 ) 4631 - 4638 2010年11月
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Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5.
Kanezaki R, Toki T, Xu G, Narayanan R, Ito E
The Tohoku journal of experimental medicine 209 ( 3 ) 169 - 180 2006年
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Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome.
Xu G, Nagano M, Kanezaki R, Toki T, Hayashi Y, Taketani T, Taki T, Mitui T, Koike K, Kato K, Imaizumi M, Sekine I, Ikeda Y, Hanada R, Sako M, Kudo K, Kojima S, Ohneda O, Yamamoto M, Ito E
Blood 102 ( 8 ) 2960 - 2968 2003年10月
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Transcription factor BACH1 is recruited to the nucleus by its novel alternative spliced isoform
R Kanezaki, T Toki, M Yokoyama, K Yomogida, K Sugiyama, M Yamamoto, K Igarashi, E Ito
JOURNAL OF BIOLOGICAL CHEMISTRY 276 ( 10 ) 7278 - 7284 2001年03月
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Cloning of human Bach1 transcription factor which regulates transcription through NF-E2 site with small Maf proteins.
T Toki, R Kanezaki, K Arai, M Yokoyama, K Igarashi, M Yamamoto, E Ito
BLOOD 90 ( 10 ) 196 - 196 1997年11月
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Mutational analysis by targeted sequencing in 11 cases of tuberous sclerosis
Yamamoto Yohei, Yamamoto Tatsuya, Kudo Ko, Toki Tsutomu, Kanezaki Rika, Ito Tatsuya, Shinagawa Tomoe, Asari Arisa, Umetsu Hidenori, Fujita Hiroshi, Ito Etsuro, Terui Kiminori
Hirosaki Medical Journal 74 ( 1-4 ) 17 - 27 2024年03月
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Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome.
Tanaka T, Kudo K, Kanezaki R, Yuzawa K, Toki T, Okuse R, Kobayashi A, Sato T, Kamio T, Terui K, Ito E
Experimental hematology 132 104179 - 104179 2024年02月
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BRAFV600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis
工藤 耕, 土岐 力, 金崎 里香
Haematologica - ( 7 ) 1719 - 1725 2022年07月
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Childhood acute myeloid leukemia with 5q deletion and HNRNPH1-MLLT10 fusion: the first case report.
Kudo K, Kubota Y, Toki T, Kanezaki R, Kobayashi A, Sato T, Kamio T, Sasaki S, Shiba N, Tomizawa D, Adachi S, Yoshida K, Ogawa S, Seki M, Takita J, Ito E, Terui K
Blood advances 6 ( 10 ) 3162 - 3166 2022年02月
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Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia
Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito
eJHaem Volume 3 ( Issue 1 ) 2022年01月
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長期に渡る繰り返す紫斑と低γグロブリン血症を主症状とした肢端紅痛症
唐沢 貴生, 橋本 峻, 佐藤 理子, 藤田 真司, 相澤 知美, 津川 浩二, 土岐 力, 金崎 里香, 佐藤 知彦, 工藤 耕, 照井 君典, 田中 完
弘前医学 72 ( 1-4 ) 80 - 83 2022年
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Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.
Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, Kanezaki R, Hasegawa D, Muramatsu H, Takahashi Y, Sasahara Y, Hiramatsu H, Kakuda H, Tanaka M, Ishimura M, Nishi M, Ishiguro A, Yabe H, Sarashina T, Yamamoto M, Yuza Y, Hyakuna N, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Miyano S, Ogawa S, Toki T, Terui K, Ito E
Bone marrow transplantation 56 ( 5 ) 1218 - 1219 2021年05月
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Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.
Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, Kanezaki R, Hasegawa D, Muramatsu H, Takahashi Y, Sasahara Y, Hiramatsu H, Kakuda H, Tanaka M, Ishimura M, Nishi M, Ishiguro A, Yabe H, Sarashina T, Yamamoto M, Yuza Y, Hyakuna N, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Miyano S, Ogawa S, Toki T, Terui K, Ito E
Bone marrow transplantation 56 ( 5 ) 1013 - 1020 2021年05月
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Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.
Terui K, Toki T, Taga T, Iwamoto S, Miyamura T, Hasegawa D, Moritake H, Hama A, Nakashima K, Kanezaki R, Kudo K, Saito AM, Horibe K, Adachi S, Tomizawa D, Ito E
Genes, chromosomes & cancer 59 ( 3 ) 160 - 167 2020年03月
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Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21.
Yuzawa K, Terui K, Toki T, Kanezaki R, Kobayashi A, Sato T, Kamio T, Kudo K, Sasaki S, Endo M, Ozono S, Nomura K, Ito E
Pediatric blood & cancer 67 ( 4 ) e28188 - e28188 2020年02月
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Comprehensive genetic analyses of relapsed B-cell precursor acute lymphoblastic leukemia in children
Kubo Kaori, Kudo Ko ,Toki Tsutomu, Kanezaki Rika, Ikeda Fumika, Ito Tatsuya, Kobayashi Akie, Sato Tomohiko, Kamio Takuya, Sasaki Shinya, Terui Kiminori, Ito Etsuro
Hirosaki Medical Journal 70 ( 1 ) 13 - 23 2019年11月
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ダウン症関連巨核芽球性白血病発症の分子機構
金崎 里香
BIO Clinica 34 ( 13 ) 1345 - 1350 2019年10月
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TAMおよびDS-AMKL発症の分子機構
金崎 里香
BIO Clinica 34 ( 6 ) 642 - 647 2019年05月
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Comprehensive genetic analyses of relapsed B-cell precursor acute lymphoblastic leukemia in children
Kubo Kaori, Kudo Ko, Toki Tsutomu, Kanezaki Rika, Ikeda Fumika, Ito Tatsuya, Kobayashi Akie, Sato Tomohiko, Kamio Takuya, Sasaki Shinya, Terui Kiminori, Ito Etsuro
Hirosaki Medical Journal 70 ( 1 ) 13 - 23 2019年
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Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an ALK germline mutation.
Kudo K, Ueno H, Sato T, Kubo K, Kanezaki R, Kobayashi A, Kamio T, Sasaki S, Terui K, Kurose A, Yoshida K, Shiozawa Y, Toki T, Ogawa S, Ito E.
Genes, chromosomes & cancer 2018年12月
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De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Tsutomu Toki, Kenichi Yoshida, RuNan Wang, Sou Nakamura, Takanobu Maekawa, Kumiko Goi, Megumi C Katoh, Seiya Mizuno, Fumihiro Sugiyama, Rika Kanezaki, Tamayo Uechi, Yukari Nakajima, Yusuke Sato, Yusuke Okuno, Aiko Sato-Otsubo, Yusuke Shiozawa, Keisuke Kataoka, Yuichi Shiraishi, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka, Kiminori Terui, Tomohiko Sato, Takuya Kamio, Hirotoshi Sakaguchi, Shouichi Ohga, Madoka Kuramitsu, Isao Hamaguchi, Akira Ohara, Hitoshi Kanno, Satoru Miyano, Seiji Kojima, Akira Ishiguro, Kanji Sugita, Naoya Kenmochi, Satoru Takahashi, Koji Eto, Seishi Ogawa, Etsuro Ito
American journal of human genetics 103 ( 3 ) 440 - 447 2018年09月
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Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Fumika Ikeda, Kenichi Yoshida, Tsutomu Toki, Tamayo Uechi, Shiori Ishida, Yukari Nakajima, Yoji Sasahara, Yusuke Okuno, Rika Kanezaki, Kiminori Terui, Takuya Kamio, Akie Kobayashi, Takashi Fujita, Aiko Sato-Otsubo, Yuichi Shiraishi, Hiroko Tanaka, Kenichi Chiba, Hideki Muramatsu, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Naoya Kenmochi, Satoru Miyano, Seishi Ogawa, Etsuro Ito
Haematologica 102 ( 3 ) e93 - e96 2017年03月
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ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan.
Fumika Ikeda, Tsutomu Toki, Rika Kanezaki, Kiminori Terui, Kenichi Yoshida, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Seishi Ogawa, Etsuro Ito
International journal of hematology 103 ( 1 ) 112 - 114 2016年01月
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Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
RuNan Wang, Kenichi Yoshida, Tsutomu Toki, Takafumi Sawada, Tamayo Uechi, Yusuke Okuno, Aiko Sato-Otsubo, Kazuko Kudo, Isamu Kamimaki, Rika Kanezaki, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Kiminori Terui, Tomohiko Sato, Yuji Iribe, Shouichi Ohga, Madoka Kuramitsu, Isao Hamaguchi, Akira Ohara, Junichi Hara, Kumiko Goi, Kousaku Matsubara, Kenichi Koike, Akira Ishiguro, Yasuhiro Okamoto, Kenichiro Watanabe, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Naoya Kenmochi, Seishi Ogawa, Etsuro Ito
British journal of haematology 168 ( 6 ) 854 - 864 2015年03月
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Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Isamu Hanada, Kiminori Terui, Fumika Ikeda, Tsutomu Toki, Rika Kanezaki, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Yoshihiro Takahashi, Yasuhide Hayashi, Takeshi Inukai, Seiji Kojima, Kenichi Koike, Yoshiyuki Kosaka, Masao Kobayashi, Masue Imaizumi, Tetsuo Mitsui, Hiroki Hori, Junichi Hara, Keizo Horibe, Jun-ichi Nagai, Hiroaki Goto, Etsuro Ito
Genes, chromosomes & cancer 53 ( 11 ) 902 - 910 2014年11月
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非ダウン症小児急性巨核芽球性白血病にみとめられた新規GATA1インフレーム変異
王汝南, 金崎里香, 土岐力, 照井君典, 佐々木伸也, 工藤耕, 神尾卓哉, 佐藤知彦, 池田史圭, 荒木亮, 落合英俊, 伊藤悦朗
弘前医学 65 ( 2-4 ) 227 - 237 2014年09月
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The landscape of somatic mutations in Down syndrome-related myeloid disorders.
Kenichi Yoshida, Tsutomu Toki, Yusuke Okuno, Rika Kanezaki, Yuichi Shiraishi, Aiko Sato-Otsubo, Masashi Sanada, Myoung-ja Park, Kiminori Terui, Hiromichi Suzuki, Ayana Kon, Yasunobu Nagata, Yusuke Sato, RuNan Wang, Norio Shiba, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Hideki Muramatsu, Daisuke Hasegawa, Kazuhiro Nakamura, Hirokazu Kanegane, Keiko Tsukamoto, Souichi Adachi, Kiyoshi Kawakami, Koji Kato, Ryosei Nishimura, Shai Izraeli, Yasuhide Hayashi, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa
Nature genetics 45 ( 11 ) 1293 - 1299 2013年11月
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Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome.
Tsutomu Toki, Rika Kanezaki, Eri Kobayashi, Hiroshi Kaneko, Mikiko Suzuki, Runan Wang, Kiminori Terui, Hirokazu Kanegane, Miho Maeda, Mikiya Endo, Tatsuki Mizuochi, Souichi Adachi, Yasuhide Hayashi, Masayuki Yamamoto, Ritsuko Shimizu, Etsuro Ito
Blood 121 ( 16 ) 3181 - 3184 2013年04月
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Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia.
Takashi Yokoyama, Tsutomu Toki, Yoshihiro Aoki, Rika Kanezaki, Myoung-Ja Park, Yohei Kanno, Tomoko Takahara, Yukari Yamazaki, Etsuro Ito, Yasuhide Hayashi, Takuro Nakamura
Blood 119 ( 11 ) 2608 - 2611 2012年03月
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Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder.
Ogawa J, Kanegane H, Tsuneyama K, Kanezaki R, Futatani T, Nomura K, Ishizawa S, Sasahara M, Ito E, Miyawaki T
European journal of haematology 81 ( 1 ) 58 - 64 2008年07月
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Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
Sato T, Toki T, Kanezaki R, Xu G, Terui K, Kanegane H, Miura M, Adachi S, Migita M, Morinaga S, Nakano T, Endo M, Kojima S, Kiyoi H, Mano H, Ito E
British journal of haematology 141 ( 5 ) 681 - 688 2008年06月
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21q11-21 領域からの一過性骨髄異常増殖症の原因遺伝子単離の試み
石崎 典子, 金崎 里香, 土岐 力, 伊藤 悦朗
弘前医学 55 ( 3-4 ) 83 - 94 2004年
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Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T, Yonesaka S, Ito E
Journal of human genetics 49 ( 8 ) 404 - 407 2004年
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B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs.
Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E
Blood 102 ( 9 ) 3317 - 3322 2003年11月
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Transgenic expression of BACH1 results in megakaryocytic linage impairement.
T Toki, F Katsuoka, R Kanezaki, T Kamio, S Tandai, H Kurotaki, S Yagihashi, K Igarashi, M Yamamoto, E Ito
BLOOD 100 ( 11 ) 721A - 721A 2002年11月