髙木 正稔 たかぎ まさとし 先生

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Kento Inoue, Akira Nishimura, Kazuhiro Uda, Toru Uchiyama, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane. Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency. J Pediatr Hematol Oncol. 2023.03; 45 (2): e285-e289.

Motoi Yamashita, Masae Kuroha, Yuko Kinowawki, Nao Kashiwagi, Kotaro Watanabe, Mika Nagase, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Kamiya, Atsuko Arisaka, Motoki Inaji, Kenichi Ohashi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. A SAMD5-SASH1 fusion in solitary infantile myofibromatosis. Pediatr Blood Cancer. 2023.03; e30278.

Tsutsumi E, Yamasaki K, Nakano Y, Takagi M, Hara J. Acute myeloid leukemia post RAS-associated autoimmune leukoproliferative disease. Pediatrics international : official journal of the Japan Pediatric Society. 2023.03; e15521.

Rifat Ara Najnin, Md Rasel Al Mahmud, Md Maminur Rahman, Shunichi Takeda, Hiroyuki Sasanuma, Hisashi Tanaka, Yasuhiro Murakawa, Naoto Shimizu, Salma Akter, Masatoshi Takagi, Takuro Sunada, Shusuke Akamatsu, Gang He, Junji Itou, Masakazu Toi, Mary Miyaji, Kimiko M Tsutsui, Scott Keeney, Shintaro Yamada. ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen. Cell Rep. 2023.01; 42 (1): 111909.

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio. A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2023.01; 13 1033074.

Aoi Morishita, Tzu-Wen Yeh, Kouki Tomari, Mihoko Furuichi, Kenichi Kashimada, Tomohiro Morio, Masatoshi Takagi, Kohsuke Imai. Transient immune deficiency accompanied with homozygous CBL rare variant. Pediatr Int. 2022.12; e15439.

Hiroki H, Akahane K, Inukai T, Morio T, Takagi M. Synergistic effect of combined PI3 kinase inhibitor and PARP inhibitor treatment on BCR/ABL1-positive acute lymphoblastic leukemia cells. International journal of hematology. 2022.12;

Auer Franziska, Escuerdo Adela, Friedrich Ulrike Anne, Stepensky Polina, Borkhardt Arndt, Elitzur Sarah, Takagi Masatoshi, Hauer Julia.. Familial Predisposition to B-Cell Precursor Acute Lymphoblastic Leukemia Mediated By PAX5 Germline Variants. Blood. 2022.11; 140 8888-8889.

Yoichi Tanaka, Kevin Y Urayama, Makiko Mori, Yuki Arakawa, Daisuke Hasegawa, Yasushi Noguchi, Masakatsu Yanagimachi, Dai Keino, Setsuo Ota, Koshi Akahane, Takeshi Inukai, Mayumi Hangai, Takahisa Kawaguchi, Masatoshi Takagi, Katsuyoshi Koh, Fumihiko Matsuda, Atsushi Manabe. Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia. Br J Haematol. 2022.10; 199 (2): 260-269.

Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I. Front Immunol. 2022.10; 13 1020362.

Adela Escudero, Masatoshi Takagi, Franziska Auer, Ulrike Anne Friedrich, Satoshi Miyamoto, Atsushi Ogawa, Kohsuke Imai, Barbara Pascual, María Vela, Polina Stepensky, Layal Yasin, Sarah Elitzur, Arndt Borkhardt, Antonio Pérez-Martínez, Julia Hauer. Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022.09; 36 (9): 2338-2342.

Tomoya Isobe, Masatoshi Takagi, Aiko Sato-Otsubo, Akira Nishimura, Genta Nagae, Chika Yamagishi, Moe Tamura, Yosuke Tanaka, Shuhei Asada, Reina Takeda, Akiho Tsuchiya, Xiaonan Wang, Kenichi Yoshida, Yasuhito Nannya, Hiroo Ueno, Ryo Akazawa, Itaru Kato, Takashi Mikami, Kentaro Watanabe, Masahiro Sekiguchi, Masafumi Seki, Shunsuke Kimura, Mitsuteru Hiwatari, Motohiro Kato, Shiro Fukuda, Kenji Tatsuno, Shuichi Tsutsumi, Akinori Kanai, Toshiya Inaba, Yusuke Shiozawa, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Rishi S Kotecha, Mark N Cruickshank, Fumihiko Ishikawa, Tomohiro Morio, Mariko Eguchi, Takao Deguchi, Nobutaka Kiyokawa, Yuki Arakawa, Katsuyoshi Koh, Yuki Aoki, Takashi Ishihara, Daisuke Tomizawa, Takako Miyamura, Eiichi Ishii, Shuki Mizutani, Nicola K Wilson, Berthold Göttgens, Satoru Miyano, Toshio Kitamura, Susumu Goyama, Akihiko Yokoyama, Hiroyuki Aburatani, Seishi Ogawa, Junko Takita. Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia. Nat Commun. 2022.08; 13 (1): 4501.

Takagi M, Ogawa C, Iehara T, Aoki-Nogami Y, Ishibashi E, Imai M, Kimura T, Nagata M, Yasuhara M, Masutani M, Yoshimura K, Tomizawa D, Ogawa A, Yonemori K, Morishita A, Miyamoto S, Takita J, Kihara T, Nobori K, Hasebe K, Miya F, Ikeda S, Shioda Y, Matsumoto K, Fujimura J, Mizutani S, Morio T, Hosoi H, Koike R. First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumors. Cancer. 2022.05;

Yasuko Aoyagi, Yoshihito Kano, Kohki Tohyama, Shotaro Matsudera, Yuichi Kumaki, Kenta Takahashi, Takahiro Mitsumura, Yohei Harada, Akemi Sato, Hideaki Nakamura, Eisaburo Sueoka, Naoko Aragane, Koichiro Kimura, Iichiro Onishi, Akira Takemoto, Keiichi Akahoshi, Hiroaki Ono, Toshiaki Ishikawa, Masanori Tokunaga, Tsuyoshi Nakagawa, Noriko Oshima, Reiko Nakamura, Masatoshi Takagi, Takahiro Asakage, Hiroyuki Uetake, Minoru Tanabe, Satoshi Miyake, Yusuke Kinugasa, Sadakatsu Ikeda. Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PLoS One. 2022.03; 17 (3): e0266112.

Takaya Honda, Masayoshi Yamaoka, Yoko Mikami Terao, Daisuke Hasegawa, Tadashi Kumamoto, Masatoshi Takagi, Kenichi Yoshida, Seishi Ogawa, Hiroaki Goto, Masaharu Akiyama. Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation. Int J Hematol. 2022.01; 115 (1): 140-145.

Teppei Ohkawa, Akira Nishimura, Kenjiro Kosaki, Yuki Aoki-Nogami, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio, Motohiro Kato, Shuki Mizutani, Masatoshi Takagi. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022.01; 67 (1): 51-54.

Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane. Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study. Front Immunol. 2022.01; 12 784901.

Eguchi S, Isoda T, Yamaguchi A, Takagi M. Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth. Pediatr Int. 2022.01; 64 (1): e15149.

Shotaro Matsudera, Yoshihito Kano, Yasuko Aoyagi, Kohki Tohyama, Kenta Takahashi, Yuichi Kumaki, Takahiro Mitsumura, Koichiro Kimura, Iichiro Onishi, Akira Takemoto, Daisuke Ban, Hiroaki Ono, Atsushi Kudo, Noriko Oshima, Kei Ogino, Shun Watanabe, Yukiko Tani, Takeshi Yamaguchi, Masanobu Nakajima, Shinji Morita, Satoru Yamaguchi, Masatoshi Takagi, Toshiaki Ishikawa, Tsuyoshi Nakagawa, Kentaro Okamoto, Hiroyuki Uetake, Minoru Tanabe, Satoshi Miyake, Takashi Tsuchioka, Kazuyuki Kojima, Sadakatsu Ikeda. A Pilot Study Analyzing the Clinical Utility of Comprehensive Genomic Profiling Using Plasma Cell-Free DNA for Solid Tumor Patients in Japan (PROFILE Study). Ann Surg Oncol. 2021.12; 28 (13): 8497-8505.

Masaki Shimizu, Asami Shimbo, Masatoshi Takagi, Katsuhide Eguchi, Masataka Ishimura, Junichi Sugita, Tomohiro Morio, Hirokazu Kanegane. Successful treatment of joint and fascial chronic graft-versus-host disease with baricitinib. Rheumatology (Oxford). 2021.12; 61 (1): e1-e3.

Tomohiro Tago, Tomonori Suzuki, Ayako Kashimada, Masatoshi Takagi, Tomoko Mizuno. Two case reports of KBG syndrome with Dandy-Walker variant. Pediatr Int. 2021.12; 63 (12): 1530-1532.

Tsubasa Okano, Akira Nishimura, Kento Inoue, Takuya Naruto, Shown Tokoro, Takahiro Tomoda, Takahiro Kamiya, Asami Simbo, Yuko Akutsu, Keisuke Okamoto, Tzuwen Yeh, Takeshi Isoda, Masakatsu Yanagimachi, Michiko Kajiwara, Kohsuke Imai, Hirokazu Kanegane, Masaaki Mori, Tomohiro Morio, Masatoshi Takagi. Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations. Rheumatology (Oxford). 2021.12; 60 (12): e429-e431.

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Takaya Moriyama, Rina Nishii, Hiroyuki Takahashi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Akitoshi Kinoshita, Moeko Hino, Toshihiko Imamura, Daisuke Hasegawa, Yozo Nakazawa, Mayuko Okuya, Harumi Kakuda, Nao Takasugi, Akiko Inoue, Kentaro Ohki, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Masashi Sanada, Nobutaka Kiyokawa, Akira Ohara, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato. NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv. 2021.12; 5 (23): 5420-5428.

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Motoi Yamashita, Aoi Morishita, Takahiro Tomoda, Tsubasa Okano, Akifumi Endo, Takahiro Kamiya, Masakatsu Yanagimachi, Kohsuke Imai, Hirokazu Kanegane, Masatoshi Takagi, Tomohiro Morio. Successful ruxolitinib administration for a patient with steroid-refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review. Clin Case Rep. 2021.12; 9 (12): e05242.

Togo Tomohiro, Suzuki Tomonori, Kashimada Ayako, Takagi Masatoshi, Mizuno Tomoko. Dandy-Walker variantを呈するKBG症候群の2症例報告(Two case reports of KBG syndrome with Dandy-Walker variant) Pediatrics International. 2021.12; 63 (12): 1530-1532.

Kumamoto Tadashi, Yamazaki Fumito, Nakano Yoshiko, Tamura Chieko, Tashiro Shimon, Hattori Hiroyoshi, Nakagawa Akira, Tsunematsu Yukiko, Hamashima Chisato, Terasawa Teruhiko, Katayama Takafumi, Kaneko Yasuhiko, Suzuki Shigenobu, Kawai Akira, Tajiri Tatsuro, Manabe Atsushi, Takagi Masatoshi, Miyasaka Mikiko, Nozaki Taiki, Takita Junko, Funato Michinori, Ito Michiya, Kakee Naoko, Hishiki Tomoro, Hirabayashi Shinsuke, Mori Tomoaki, Sakurai Akihiro, Fujii Katsunori, Yagata Hiroshi, Shimada Akira, Hiyama Eizou, Muramatsu Hideki, Yao Masahiro, Tsutsumi Masayoshi, Kawakubo Naonori, Yoshida Teruhiko, Nakajima Takeshi, Nakayama Yoshiko, Higuchi Akiko, Kondo Hiroko, Katayama Asako. リー・フラウメニ症候群の診療ガイドライン2019年度版ver.1.1(Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1) International Journal of Clinical Oncology. 2021.12; 26 (12): 2161-2178.

Yuko Ishii, Aiko Sato-Otsubo, Junko Takita, Tomohiro Morio, Masatoshi Takagi. Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction. Pediatr Int. 2021.10; 63 (10): 1192-1197.

Ryota Shirai, Tomoo Osumi, Aiko Sato-Otsubo, Kazuhiko Nakabayashi, Takeshi Mori, Masanori Yoshida, Kaoru Yoshida, Mika Kohri, Takashi Ishihara, Shiho Yasue, Toshihiko Imamura, Mikiya Endo, Satoshi Miyamoto, Kentaro Ohki, Masashi Sanada, Nobutaka Kiyokawa, Seishi Ogawa, Takako Yoshioka, Kenichiro Hata, Masatoshi Takagi, Motohiro Kato. Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken). 2021.09; 5 (9): e1559.

Yoichi Tanaka, Allen Eng Juh Yeoh, Takaya Moriyama, Chi-Kong Li, Ko Kudo, Yuki Arakawa, Jassada Buaboonnam, Hui Zhang, Hsi-Che Liu, Hany Ariffin, Zhiwei Chen, Shirley K Y Kham, Rina Nishii, Daisuke Hasegawa, Junya Fujimura, Dai Keino, Kensuke Kondoh, Atsushi Sato, Takahiro Ueda, Masaki Yamamoto, Yuichi Taneyama, Moeko Hino, Masatoshi Takagi, Akira Ohara, Etsuro Ito, Katsuyoshi Koh, Hiroki Hori, Atsushi Manabe, Jun J Yang, Motohiro Kato. An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia. Haematologica. 2021.07; 106 (7): 2026-2029.

Akira Nishimura, Yuki Aoki, Yasuyoshi Ishiwata, Takuya Ichimura, Junichi Ueyama, Yuta Kawahara, Takahiro Tomoda, Maiko Inoue, Kazuaki Matsumoto, Kento Inoue, Haruka Hiroki, Shintaro Ono, Motoi Yamashita, Tsubasa Okano, Mari Tanaka-Kubota, Miho Ashiarai, Satoshi Miyamoto, Reiji Miyawaki, Chika Yamagishi, Mari Tezuka, Teppei Okawa, Akihiro Hoshino, Akifumi Endo, Masato Yasuhara, Takahiro Kamiya, Noriko Mitsuiki, Toshiaki Ono, Takeshi Isoda, Masakatsu Yanagimachi, Daisuke Tomizawa, Masayuki Nagasawa, Shuki Mizutani, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio. Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. J Clin Immunol. 2021.07; 41 (5): 944-957.

Motoi Yamashita, Hye Sun Kuehn, Kazuki Okuyama, Satoshi Okada, Yuzaburo Inoue, Noriko Mitsuiki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Masahiro Takeuchi, Naoki Shimojo, Miyuki Tsumura, Aditya K Padhi, Kam Y J Zhang, Bertrand Boisson, Jean-Laurent Casanova, Osamu Ohara, Sergio D Rosenzweig, Ichiro Taniuchi, Tomohiro Morio. A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS. Nat Immunol. 2021.07; 22 (7): 893-903.

Akira Nishimura, Takuya Naruto, Satoshi Miyamoto, Andrew Grigg, Julian J Bosco, Akihiro Hoshino, Keishiro Amano, Shotaro Iwamoto, Masahiro Hirayama, Masahiro Migita, Osamu Ohara, Masatoshi Takagi, Tomohiro Morio, Menno C van Zelm, Hirokazu Kanegane. Genomics analysis of leukaemia predisposition in X-linked agammaglobulinaemia. Br J Haematol. 2021.06; 193 (6): 1277-1281.

Tamaki Kato, Yoshiteru Tamura, Hiroshi Matsumoto, Osamu Kobayashi, Hideaki Ishiguro, Masaya Ogawa, Koyo Tsujikawa, Yasuhiro Hasegawa, Mitsuhiro Sakamoto, Masaaki Konagaya, Hideki Houzen, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Akio Yokoseki, Osamu Onodera, Shigeaki Nonoyama. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Clin Immunol. 2021.06; 108776.

Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, Miyuki Tsumura, Yusuke Imanaka, Hidenori Ohnishi, Zenichiro Kato, Jie Pan, Akihiro Hoshino, Koji Suzuki, Motoko Yasutomi, Shuichiro Umetsu, Chizuru Okada, Masatoshi Takagi, Kohsuke Imai, Osamu Ohara, Alexo M Muise, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane. Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3. J Clin Immunol. 2021.05; 41 (4): 780-790.

Michinori Funato, Yukiko Tsunematsu, Fumito Yamazaki, Chieko Tamura, Tadashi Kumamoto, Masatoshi Takagi, Shunsuke Kato, Haruhiko Sugimura, Kazuo Tamura. Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT. Cancer Sci. 2021.05; 112 (7): 2821-2834.

de Groot AP, Saito Y, Kawakami E, Hashimoto M, Aoki Y, Ono R, Ogahara I, Fujiki S, Kaneko A, Sato K, Kajita H, Watanabe T, Takagi M, Tomizawa D, Koh K, Eguchi M, Ishii E, Ohara O, Shultz LD, Mizutani S, Ishikawa F. Targeting critical kinases and anti-apoptotic molecules overcomes steroid resistance in MLL-rearranged leukaemia. EBioMedicine. 2021.02; 64 103235.

Maiko Inoue, Takeshi Isoda, Motoi Yamashita, Takahiro Tomoda, Kento Inoue, Tsubasa Okano, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Takahiro Kamiya, Masakatsu Yanagimachi, Kouhei Yamamoto, Yuichiro Inaba, Toru Sasaki, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio. Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases. J Clin Immunol. 2021.01; 41 (1): 243-247.

Kazuaki Matsumoto, Akihiro Hoshino, Akira Nishimura, Tamaki Kato, Yoshio Mori, Masaki Shimomura, Chie Naito, Kenichiro Watanabe, Minoru Hamazaki, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Tomohiro Morio. DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection. J Clin Immunol. 2020.11; 40 (8): 1187-1190.

Kenji Okada, Mihoko Mizuno, Hiroyuki Moriuchi, Satoshi Kusuda, Ichiro Morioka, Masaaki Mori, Keisuke Okamoto, Kuniyuki Okada, Shigemi Yoshihara, Hiroyuki Yamagishi, Utako Yokoyama, Tomohiro Kubota, Kazuko Kudo, Masatoshi Takagi, Shuichi Ito, Yutaka Kanamori, Yoji Sasahara. The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report. Pediatr Int. 2020.11; 62 (11): 1223-1229.

Okada Kenji, Mizuno Mihoko, Moriuchi Hiroyuki, Kusuda Satoshi, Morioka Ichiro, Mori Masaaki, Okamoto Keisuke, Okada Kuniyuki, Yoshihara Shigemi, Yamagishi Hiroyuki, Yokoyama Utako, Kubota Tomohiro, Kudo Kazuko, Takagi Masatoshi, Ito Shuichi, Kanamori Yutaka, Sasahara Yoji, Japan Pediatric Society, Japan Society for Neonatal Health and Development, Japanese Society for Pediatric Infectious Diseases, Pediatric Rheumatology Association of Japan, Japanese Society of Pediatric Pulmonology, Japanese Society of Pediatric Cardiology and Cardiac Surgery, The Japanese Society of Pediatric Hematology/Oncology, Japanese Society for Pediatric Nephrology, The Japanese Society of Pediatric Surgeons, Japanese Society for Immunodeficiency and Autoinflammatory Diseases. 「日本におけるパリビズマブの使用に関するガイドライン」改訂検討ワーキンググループ 委員会報告(The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report) Pediatrics International. 2020.11; 62 (11): 1223-1229.

Hiroshi Yoshino, Yohei Nishiyama, Hiroshi Kamma, Tomohiro Chiba, Masachika Fujiwara, Takehiro Karaho, Yasunao Kogashiwa, Tomohiro Morio, Kunimasa Yan, Fumio Bessho, Masatoshi Takagi. Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood. Int J Hematol. 2020.08; 112 (2): 217-222.

Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. British journal of haematology. 2020.08;

Yoshino Hiroshi, Nishiyama Yohei, Kamma Hiroshi, Chiba Tomohiro, Fujiwara Masachika, Karaho Takehiro, Kogashiwa Yasunao, Morio Tomohiro, Yan Kunimasa, Bessho Fumio, Takagi Masatoshi. 小児期の遺伝性血小板減少症、急性リンパ芽球性白血病、唾液腺癌に関連する生殖細胞系列ETV6変異型の機能的特性(Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood) International Journal of Hematology. 2020.08; 112 (2): 217-222.

Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. J. Clin. Immunol.. 2020.07; 40 (5): 729-740.

Hisashi Ishida, Yuji Miyajima, Nobuyuki Hyakuna, Satoru Hamada, Takeo Sarashina, Risa Matsumura, Katsutsugu Umeda, Tetsuo Mitsui, Naoto Fujita, Daisuke Tomizawa, Kevin Y Urayama, Yasushi Ishida, Takashi Taga, Masatoshi Takagi, Souichi Adachi, Atsushi Manabe, Toshihiko Imamura, Katsuyoshi Koh, Akira Shimada, Leukemia/Lymphoma Committee of the Japanese Society of Pediatric Hematology Oncology (JSPHO). Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey. eHaem. 2020.07; 1 (1): 86-93.

Hoshino A, Nishimura A, Naruto T, Okano T, Matsumoto K, Okamoto K, Shintaku H, Tokoro S, Okamoto H, Wada T, Takagi M, Imai K, Kanegane H, Morio T. High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder. Br. J. Haematol.. 2020.05; 189 (4): e164-e168.

Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H. Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transpl Infect Dis. 2020.05; e13331.

Akihiro Hoshino, Shown Tokoro, Takumi Akashi, Maiko Inoue, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Yasunori Muraosa, Katsuhiko Kamei, Tomohiro Morio. Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation. Pediatr Int. 2020.03; 62 (3): 419-420.

Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66.

Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T. Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28 (4): 105-112.

Sutani Akito, Miyakawa Yuichi, Tsuji-Hosokawa Atsumi, Nomura Risa, Nakagawa Ryuichi, Nakajima Keisuke, Maru Mitsue, Aoki Yuki, Takasawa Kei, Takagi Masatoshi, Imai Kohsuke, Kashimada Kenichi, Morio Tomohiro. 非悪性疾患に対する造血幹細胞移植後の女性患者における性腺機能不全(Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases) Clinical Pediatric Endocrinology. 2019.10; 28 (4): 105-112.

Atsushi Watanabe, Takeshi Inukai, Keiko Kagami, Masako Abe, Masatoshi Takagi, Takashi Fukushima, Hiroko Fukushima, Toru Nanmoku, Kiminori Terui, Tatsuya Ito, Tsutomu Toki, Etsuro Ito, Junya Fujimura, Hiroaki Goto, Mikiya Endo, Thomas Look, Mark Kamps, Masayoshi Minegishi, Junko Takita, Toshiya Inaba, Hiroyuki Takahashi, Akira Ohara, Daisuke Harama, Tamao Shinohara, Shinpei Somazu, Hiroko Oshiro, Koshi Akahane, Kumiko Goi, Kanji Sugita. Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019.09; 8 (11): 5274-5288.

Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani. Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev. 2019.08; 41 (7): 630-633.

Takeshi Isoda, Tomohiro Morio, Masatoshi Takagi. Noncoding RNA transcription at enhancers and genome folding in cancer. Cancer Sci. 2019.08; 110 (8): 2328-2336.

Isoda Takeshi, Morio Tomohiro, Takagi Masatoshi. がんのエンハンサー部位で生じるノンコーディングRNAの転写現象とゲノムの折りたたみ(Noncoding RNA transcription at enhancers and genome folding in cancer) Cancer Science. 2019.08; 110 (8): 2328-2336.

Akihiro Hoshino, Hirokazu Kanegane, Masanori Nishi, Ikuya Tsuge, Kiriko Tokuda, Ichiro Kobayashi, Kohsuke Imai, Tomohiro Morio, Masatoshi Takagi. Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin Immunol. 2019.06; 203 9-13.

Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio. Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci.. 2019.04; 132 (8):

Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41 (2): 150-157.

Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu-Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane. Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Front Pediatr. 2019.02; 7 15.

Mari Kubota-Tanaka, Tomoo Osumi, Shouko Miura, Hiroshi Tsujimoto, Toshihiko Imamura, Akira Nishimura, Kentaro Oki, Kozue Nakamura, Satoshi Miyamoto, Kento Inoue, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Shinji Kounami, Mikiya Endo, Motohiro Kato, Masatoshi Takagi. B-lymphoblastic lymphoma with TCF3-PBX1 fusion gene. Haematologica. 2019.01; 104 (1): e35-e37.

Masatoshi Takagi, Chitose Ogawa, Yuki Aoki-Nogami, Tomoko Iehara, Eri Ishibashi, Minoru Imai, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Kenichi Yoshimura, Pariko Yorozu, Hajime Hosoi, Ryuji Koike. Phase I clinical study of oral olaparib in pediatric patients with refractory solid tumors: study protocol. BMC Pediatr. 2019.01; 19 (1): 31.

Akihiro Hoshino, Kay Tanita, Kenji Kanda, Ken-Ichi Imadome, Yoshiaki Shikama, Takahiro Yasumi, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Hirokazu Kanegane. High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations. Clin Immunol. 2018.10; 195 45-48.

Takashi Taga, Toshihiko Imamura, Kentaro Nakashima, Naoko Maeda, Akihiro Watanabe, Yuji Miyajima, Sachi Sakaguchi, Hitoshi Sano, Daiichiro Hasegawa, Hirohide Kawasaki, Souichi Adachi, Masatoshi Takagi, Katsuyoshi Koh, Atsushi Manabe, Tomohiko Taki, Yasushi Ishida. Clinical characteristics of pediatric patients with myeloid sarcoma without bone marrow involvement in Japan. Int J Hematol. 2018.10; 108 (4): 438-442.

Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio. Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. Int. J. Hematol.. 2018.09; 108 (3): 319-328.

Ono Shintaro, Nakayama Manabu, Kanegane Hirokazu, Hoshino Akihiro, Shimodera Saeko, Shibata Hirofumi, Fujino Hisanori, Fujino Takahiro, Yunomae Yuta, Okano Tsubasa, Yamashita Motoi, Yasumi Takahiro, Izawa Kazushi, Takagi Masatoshi, Imai Kohsuke, Zhang Kejian, Marsh Rebecca, Picard Capucine, Latour Sylvain, Ohara Osamu, Morio Tomohiro. 次世代シークエンスを用いたEpstein-Barrウイルス関連リンパ増殖性疾患の包括的分子診断(Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing) International Journal of Hematology. 2018.09; 108 (3): 319-328.

Kenji Kubara, Kazuto Yamazaki, Yasuharu Ishihara, Takuya Naruto, Huan-Ting Lin, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Masashi Ito, Kappei Tsukahara, Tomohiro Morio, Masatoshi Takagi, Makoto Otsu. Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity. Stem Cell Reports. 2018.08; 11 (2): 380-394.

Imamura T, Taga T, Takagi M, Kawasaki H, Koh K, Taki T, Adachi S, Manabe A, Ishida Y; Leukemia/Lymphoma Committee; Japanese Society of Pediatric Hematology Oncology (JSPHO).. Nationwide survey of therapy-related leukemia in childhood in Japan. International Journal of Hematology. 2018.07; 108 (1): 91-97.

Noguchi Y, Tomizawa D, Hiroki H, Miyamoto S, Tezuka M, Miyawaki R, Tanaka-Kubota M, Okano T, Kobayashi C, Mitsuiki N, Aoki Y, Imai K, Kajiwara M, Kanegane H, Morio T, Takagi M. Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission. Clin Case Rep. 2018.06; 6 (6): 1023-1028.

Rina Nishii, Takaya Moriyama, Laura J Janke, Wenjian Yang, Chase C Suiter, Ting-Nien Lin, Lie Li, Kentaro Kihira, Hidemi Toyoda, Ute Hofmann, Matthias Schwab, Masatoshi Takagi, Tomohiro Morio, Atsushi Manabe, Shirley Kham, Nan Jiang, Karen R Rabin, Motohiro Kato, Katsuyoshi Koh, Allen Eng-Juh Yeoh, Hiroki Hori, Jun J Yang. Preclinical evaluation of NUDT15-guided thiopurine therapy and its effects on toxicity and antileukemic efficacy. Blood. 2018.05; 131 (22): 2466-2474.

Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio. Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. Int. J. Hematol.. 2018.05; 107 (5): 610-614.

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, Virginia Patiño, Klaus Warnatz, Daniel Wolff, Akihiro Hoshino, Masao Kobayashi, Kohsuke Imai, Masatoshi Takagi, Ingunn Dybedal, Jamanda A Haddock, David M Sansom, Jose M Lucena, Maximilian Seidl, Annette Schmitt-Graeff, Veronika Reiser, Florian Emmerich, Natalie Frede, Alla Bulashevska, Ulrich Salzer, Desirée Schubert, Seiichi Hayakawa, Satoshi Okada, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Zdenek Sumnik, Anna Sediva, Mary Slatter, Peter D Arkwright, Andrew Cant, Hanns-Martin Lorenz, Thomas Giese, Vassilios Lougaris, Alessandro Plebani, Christina Price, Kathleen E Sullivan, Michel Moutschen, Jiri Litzman, Tomas Freiberger, Frank L van de Veerdonk, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Carsten Speckmann, Stephan Ehl, Alan Leichtner, Richard Blumberg, Andre Franke, Scott Snapper, Sebastian Zeissig, Charlotte Cunningham-Rundles, Lisa Giulino-Roth, Olivier Elemento, Gregor Dückers, Tim Niehues, Eva Fronkova, Veronika Kanderová, Craig D Platt, Janet Chou, Talal A Chatila, Raif Geha, Elizabeth McDermott, Su Bunn, Monika Kurzai, Ansgar Schulz, Laia Alsina, Ferran Casals, Angela Deyà-Martinez, Sophie Hambleton, Hirokazu Kanegane, Kjetil Taskén, Olaf Neth, Bodo Grimbacher. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018.05;

Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, Kanako Mitsui-Sekinaka, Kay Tanita, Satoshi Miyamoto, Tzu-Wen Yeh, Motoi Yamashita, Naomi Terada, Yumi Ogura, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio. Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases. J. Clin. Immunol.. 2018.04; 38 (3): 300-306.

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Tomoki Kawai, Eitaro Hiejima, Masatoshi Takagi, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Toshio Heike, Osamu Ohara, Tomohiro Morio, Toshiyuki Fukao, Hirokazu Kanegane. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J. Allergy Clin. Immunol.. 2018.04; 141 (4): 1485-1488.e11.

Yasuyoshi Ishiwata, Masashi Nagata, Kohta Tsuge, Hiromitsu Takahashi, Sayo Suzuki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Masato Yasuhara. Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases. J Clin Pharmacol. 2018.03; 58 (3): 327-331.

Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi. Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. Brain Dev. 2018.02; 40 (2): 150-154.

Ayako Kashimada, Setsuko Hasegawa, Takeo Isagai, Tsuyoshi Uchiyama, Muneaki Matsuo, Motoharu Kawai, Masahide Goto, Tomohiro Morio, Yukiko K Hayashi, Masatoshi Takagi. Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome. J Neurol Sci. 2018.02; 385 49-56.

Masatoshi Takagi, Akihiro Hoshino, Kenichi Yoshida, Hiroo Ueno, Kohsuke Imai, Jinhua Piao, Hirokazu Kanegane, Motoi Yamashita, Tsubasa Okano, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Seiji Kojima, Tomohiro Morio. Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. Pediatr Blood Cancer. 2018.02; 65 (2):

Kevin Y Urayama, Masatoshi Takagi, Takahisa Kawaguchi, Keitaro Matsuo, Yoichi Tanaka, Yoko Ayukawa, Yuki Arakawa, Daisuke Hasegawa, Yuki Yuza, Takashi Kaneko, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Takeshi Inukai, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Hidemitsu Kurosawa, Kozue Nakamura, Koichi Moriwaki, Hiroaki Goto, Yujin Sekinaka, Daisuke Morita, Motohiro Kato, Junko Takita, Toshihiro Tanaka, Johji Inazawa, Katsuyoshi Koh, Yasushi Ishida, Akira Ohara, Shuki Mizutani, Fumihiko Matsuda, Atsushi Manabe. Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018.01; 8 (1): 789.

Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol Int. 2018.01; 67 (1): 43-54.

Masayuki Nagasawa, Noriko Mitsuiki, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio. Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients. Eur J Haematol. 2017.12; 99 (6): 525-531.

Masatoshi Takagi, Misa Yoshida, Yoshino Nemoto, Hiroyuki Tamaichi, Rika Tsuchida, Masafumi Seki, Kumiko Uryu, Noriko Hoshino, Rina Nishii, Satoshi Miyamoto, Masahiro Saito, Toshiaki Shimizu, Ryoji Hanada, Hideo Kaneko, Toshiyuki Fukao, Takatoshi Koyama, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Yusuke Sato, Yoichi Fujii, Keisuke Kataoka, Yusuke Okuno, Kenichi Yoshida, Tomohiro Morio, Akira Oka, Miki Ohira, Yasuhide Hayashi, Akira Nakagawara, Seishi Ogawa, Shuki Mizutani, Junko Takita.. Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor. J. Natl. Cancer Inst.. 2017.11; 109 (11):

M Ratnaparkhe, M Hlevnjak, T Kolb, A Jauch, K K Maass, F Devens, A Rode, V Hovestadt, A Korshunov, A Pastorczak, W Mlynarski, S Sungalee, J Korbel, J Hoell, U Fischer, T Milde, C Kramm, M Nathrath, K Chrzanowska, E Tausch, M Takagi, T Taga, S Constantini, J Loeffen, J Meijerink, S Zielen, G Gohring, B Schlegelberger, E Maass, R Siebert, J Kunz, A E Kulozik, B Worst, D T Jones, S M Pfister, M Zapatka, P Lichter, A Ernst. Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. 2017.10; 31 (10): 2048-2056.

Masafumi Seki, Shunsuke Kimura, Tomoya Isobe, Kenichi Yoshida, Hiroo Ueno, Yaeko Nakajima-Takagi, Changshan Wang, Lin Lin, Ayana Kon, Hiromichi Suzuki, Yusuke Shiozawa, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Teppei Shimamura, Kyoko Masuda, Hiroshi Kawamoto, Kentaro Ohki, Motohiro Kato, Yuki Arakawa, Katsuyoshi Koh, Ryoji Hanada, Hiroshi Moritake, Masaharu Akiyama, Ryoji Kobayashi, Takao Deguchi, Yoshiko Hashii, Toshihiko Imamura, Atsushi Sato, Nobutaka Kiyokawa, Akira Oka, Yasuhide Hayashi, Masatoshi Takagi, Atsushi Manabe, Akira Ohara, Keizo Horibe, Masashi Sanada, Atsushi Iwama, Hiroyuki Mano, Satoru Miyano, Seishi Ogawa, Junko Takita. Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017.08; 49 (8): 1274-1281.

Tsubasa Okano, Takuro Nishikawa, Eri Watanabe, Takashi Watanabe, Takehiro Takashima, Tzu-Wen Yeh, Motoi Yamashita, Mari Tanaka-Kubota, Satoshi Miyamoto, Noriko Mitsuiki, Masatoshi Takagi, Yoshifumi Kawano, Yoshiki Mochizuki, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin Immunol. 2017.08; 183 112-120.

Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases. J Clin Immunol. 2017.07; 37 (5): 486-495.

Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio. A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation. J Clin Immunol. 2017.07; 37 (5): 413-414.

H Takahashi, J Inoue, K Sakaguchi, M Takagi, S Mizutani, J Inazawa. Autophagy is required for cell survival under L-asparaginase-induced metabolic stress in acute lymphoblastic leukemia cells. Oncogene. 2017.07; 36 (30): 4267-4276.

Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama. Common Variable Immunodeficiency Caused by FANC Mutations. J Clin Immunol. 2017.07; 37 (5): 434-444.

Akihiro Hoshino, Satoshi Okada, Kenichi Yoshida, Naonori Nishida, Yusuke Okuno, Hiroo Ueno, Motoi Yamashita, Tsubasa Okano, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Masao Kobayashi, Haruna Nakamura, Junji Kamizono, Kanako Mitsui-Sekinaka, Takuya Ichimura, Shouichi Ohga, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Shigeaki Nonoyama, Tomohiro Morio, Hirokazu Kanegane. Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017.07; 140 (1): 223-231.

Taizo Wada, Satoshi Miyamoto, Hiroyuki Okamoto, Yusuke Matsuda, Tomoko Toma, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Akihiro Yachie. Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation. Pediatr Blood Cancer. 2017.07; 64 (7):

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2017.06; 139 (6): 1914-1922.

Masatoshi Takagi, Yasuyoshi Ishiwata, Yuki Aoki, Satoshi Miyamoto, Akihiro Hoshino, Kazuaki Matsumoto, Akira Nishimura, Mari Tanaka, Masakatsu Yanagimachi, Noriko Mitsuiki, Kohsuke Imai, Hirokazu Kanegane, Michiko Kajiwara, Kanako Takikawa, Tsukasa Mae, Osamu Tomita, Junya Fujimura, Masato Yasuhara, Daisuke Tomizawa, Shuki Mizutani, Tomohiro Morio. HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol. 2017.05; 105 (5): 686-691.

Hiroshi Moritake, Megumi Obara, Yusuke Saito, Ayako Kashimada, Masatoshi Takagi, Megumi Funakoshi-Tago, Tomofusa Fukuyama, Mikio Yoshioka, Akira Inoue, Hiroyuki Komatsu, Hideki Nishitoh, Hiroaki Kataoka, Hiroyuki Nunoi. A mouse model reveals that Mfsd2a is critical for unfolded protein response upon exposure to tunicamycin. Hum Cell. 2017.04; 30 (2): 88-97.

Masatoshi Takagi. DNA damage response and hematological malignancy. Int J Hematol. 2017.04; 106 (3): 450-453.

M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe. Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia. 2017.03; 31 (3): 580-584.

Jinhua Piao, Shiori Takai, Takahiro Kamiya, Takeshi Inukai, Kanji Sugita, Kazuma Ohyashiki, Domenico Delia, Mitsuko Masutani, Shuki Mizutani, Masatoshi Takagi. Poly (ADP-ribose) polymerase inhibitors selectively induce cytotoxicity in TCF3-HLF-positive leukemic cells. Cancer Lett. 2017.02; 386 131-140.

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. J Clin Immunol. 2017.01; 37 (1): 85-91.

Yuki Tsujita, Kanako Mitsui-Sekinaka, Kohsuke Imai, Tzu-Wen Yeh, Noriko Mitsuiki, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Yujin Sekinaka, Kiyotaka Zaha, Tamaki Kato, Tsubasa Okano, Takehiro Takashima, Kaoru Kobayashi, Mitsuaki Kimura, Tomoaki Kunitsu, Yoshihiro Maruo, Hirokazu Kanegane, Masatoshi Takagi, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Tomohiro Morio, Shigeaki Nonoyama. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J Allergy Clin Immunol. 2016.12; 138 (6): 1672-1680.e10.

Akifumi Endo, Daisuke Tomizawa, Yuki Aoki, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi. EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway. Cancer Sci. 2016.12; 107 (12): 1745-1754.

Minoru Asada, Shuki Mizutani, Masatoshi Takagi, Hidenori Suzuki. Antipsychotics promote neural differentiation of human iPS cell-derived neural stem cells. Biochem Biophys Res Commun. 2016.11; 480 (4): 615-621.

Takeshi Sato, Tsubasa Okano, Mari Tanaka-Kubota, Shunsuke Kimura, Satoshi Miyamoto, Shintaro Ono, Motoi Yamashita, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Takasuke Ebato, Shohei Ogata, Hirotsugu Oda, Osamu Ohara, Hirokazu Kanegane, Tomohiro Morio. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. Pediatr Int. 2016.10; 58 (10): 1076-1080.

Sayaka Akaike, Koju Kamoi, Mari Tezuka, Daisuke Tomizawa, Ryoichi Yoshimura, Masatoshi Takagi, Kyoko Ohno-Matsui. Ocular manifestation in myeloid/NK cell precursor acute leukemia: a case report. Diagnosed by flow cytometry and PCR from aqueous humor. Medicine (Baltimore). 2016.09; 95 (38): e4967.

Masayuki Nagasawa, Noriko Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Norio Shimizu, Tomohiro Morio. Sequential virus monitoring of pediatric patients with hematopoietic stem cell transplantation by multiplex PCR method. Transplantation Open. 2016.08; 1 (1): 17-24.

Nagasawa M, Ono T, Aoki Y, Isoda T, Takagi M, Imai K, Kajiwara M, Morio T.. A pediatric case of very late onset non-infectious pulmonary complication (LONIPC) after allogeneic hematopoietic stem cell transplantation. J Clin Exp Transplant. 2016.06; 1 (1): 104.

Hiroshi Moritake, Masatoshi Takagi, Mariko Kinoshita, Osamu Ohara, Shojiro Yamamoto, Sayaka Moriguchi, Hiroyuki Nunoi. Autoimmunity Including Intestinal Behçet Disease Bearing the KRAS Mutation in Lymphocytes: A Case Report. Pediatrics. 2016.03; 137 (3): e20152891.

Yuki Aoki, Reiji Miyawaki, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Yasuyoshi Ishiwata, Masato Yasuhara, Tomohiro Morio, Shuki Mizutani, Daisuke Tomizawa. Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia. J Pediatr Hematol Oncol. 2016.01; 38 (1): 39-41.

Mai Nanya, Masaki Sato, Kousuke Tanimoto, Minoru Tozuka, Shuki Mizutani, Masatoshi Takagi. Dysregulation of the DNA Damage Response and KMT2A Rearrangement in Fetal Liver Hematopoietic Cells. PLoS ONE. 2015.12; 10 (12): e0144540.

Yuko Atsumi, Yusuke Minakawa, Masaya Ono, Sachiko Dobashi, Keitaro Shinohe, Akira Shinohara, Shunichi Takeda, Masatoshi Takagi, Nobuhiko Takamatsu, Hitoshi Nakagama, Hirobumi Teraoka, Ken-Ichi Yoshioka. ATM and SIRT6/SNF2H Mediate Transient H2AX Stabilization When DSBs Form by Blocking HUWE1 to Allow Efficient γH2AX Foci Formation. Cell Rep. 2015.12; 13 (12): 2728-2740.

Mitsutaka Shiota, Xi Yang, Mei Kubokawa, Tatsuya Morishima, Kuniaki Tanaka, Masamitsu Mikami, Kenichi Yoshida, Masako Kikuchi, Kazushi Izawa, Ryuta Nishikomori, Yusuke Okuno, Xian Wang, Hirotoshi Sakaguchi, Hideki Muramatsu, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Masatoshi Takagi, Daisuke Hata, Hirokazu Kanegane. Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. J. Clin. Immunol.. 2015.07; 35 (5): 454-458.

Tojo Nakayama, Yuko Sato, Mitsugu Uematsu, Masatoshi Takagi, Setsuko Hasegawa, Satoko Kumada, Atsuo Kikuchi, Naomi Hino-Fukuyo, Yoji Sasahara, Kazuhiro Haginoya, Shigeo Kure. Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. Brain Dev.. 2015.03; 37 (3): 362-365.

Teppei Ohkawa, Satoshi Miyamoto, Manabu Sugie, Daisuke Tomizawa, Kohsuke Imai, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi. Transient abnormal myelopoiesis in non-Down syndrome neonate. Pediatr Int. 2015.02; 57 (1): e14-e17.

Masatoshi Takagi, Hatsume Uno, Rina Nishi, Masataka Sugimoto, Setsuko Hasegawa, Jinhua Piao, Norimasa Ihara, Sayaka Kanai, Saori Kakei, Yoshifumi Tamura, Takayoshi Suganami, Yasutomi Kamei, Toshiaki Shimizu, Akio Yasuda, Yoshihiro Ogawa, Shuki Mizutani. ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis. Cell Rep. 2015.02; 10 (6): 957-967.

Aoki Yuki, Watanabe Takashi, Saito Yoriko, Kuroki Yoko, Hijikata Atsushi, Takagi Masatoshi, Tomizawa Daisuke, Eguchi Mariko, Eguchi-Ishimae Minenori, Kaneko Akiko, Ono Rintaro, Sato Kaori, Suzuki Nahoko, Fujiki Saera, Koh Katsuyoshi, Ishii Eiichi, Shultz Leonard D, Ohara Osamu, Mizutani Shuki, Ishikawa Fumihiko. Identification of CD34+ and CD34- leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood. 2015.02; 125 (6): 967-980.

Ohnishi Michihiro, Sasaki Naoyuki, Kishimoto Takuya, Watanabe Hidetoshi, Takagi Masatoshi, Mizutani Shuki, Kishii Noriyuki, Yasuda Akio. A new microcolumn-type microchip for examining the expression of chimeric fusion genes using a nucleic acid sandwich hybridization technique. J Chromatogr B Analyt Technol Biomed Life Sci. 2014.11; 970 60-67.

Aoki Yuki, Sato Ayako, Mizutani Shuki, Takagi Masatoshi. Hematopoietic myeloid cell differentiation diminishes nucleotide excision repair. Int J Hematol. 2014.09; 100 (3): 260-265.

Nakatani K, Imai K, Shigeno M, Sato H, Tezuka M, Okawa T, Mitsuiki N, Isoda T, Tomizawa D, Takagi M, Nagasawa M, Kajiwara M, Yamamoto M, Arai A, Miura O, Kamae C, Nakagawa N, Honma K, Nonoyama S, Mizutani S, Morio T. Cord blood transplantation is associated with rapid B-cell neogenesis compared with BM transplantation. Bone Marrow Transplant. 2014.09; 49 (9): 1155-1161.

Endo Akifumi, Watanabe Ken, Ohye Tamae, Suzuki Kyoko, Matsubara Tomoyo, Shimizu Norio, Kurahashi Hiroki, Yoshikawa Tetsushi, Katano Harutaka, Inoue Naoki, Imai Kohsuke, Takagi Masatoshi, Morio Tomohiro, Mizutani Shuki. Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency. Clin Infect Dis. 2014.08; 59 (4): 545-548.

Takasawa Kei, Ono Makoto, Hijikata Atsushi, Matsubara Yohei, Katsumata Noriyuki, Takagi Masatoshi, Morio Tomohiro, Ohara Osamu, Kashimada Kenichi, Mizutani Shuki. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Delta5-steroids. Clin Endocrinol (Oxf). 2014.06; 80 (6): 782-789.

Takasawa Kei, Kashimada Kenichi, Pelosi Emanuele, Takagi Masatoshi, Morio Tomohiro, Asahara Hiroshi, Schlessinger David, Mizutani Shuki, Koopman Peter. FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice. FASEB J. 2014.05; 28 (5): 2020-2028.

Hasegawa Setsuko, Imai Kohsuke, Yoshida Kenichi, Okuno Yusuke, Muramatsu Hideki, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Kojima Seiji, Ogawa Seishi, Morio Tomohiro, Mizutani Shuki, Takagi Masatoshi. Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. J Neurol Sci. 2014.05; 340 (1-2): 86-90.

Tanaka Eriko, Asanuma Katsuhiko, Kim Eunhee, Sasaki Yu, Oliva Trejo Juan Alejandro, Seki Takuto, Nonaka Kanae, Asao Rin, Nagai-Hosoe Yoshiko, Akiba-Takagi Miyuki, Hidaka Teruo, Takagi Masatoshi, Koyanagi Akemi, Mizutani Shuki, Yagita Hideo, Tomino Yasuhiko. Notch2 activation ameliorates nephrosis. Nat Commun. 2014; 5 3296.

Nagasawa Masayuki, Ohkawa Teppei, Endo Akifumi, Mitsuiki Noriko, Ono Toshiaki, Aoki Yuki, Isoda Takeshi, Tomizawa Daisuke, Takagi Masatoshi, Kajiwara Michiko, Morio Tomohiro, Mizutani Shuki. Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience. Int J Hematol. 2013.11; 98 (5): 533-542.

Piao Jinhua, Sakurai Naoto, Iwamoto Shotaro, Nishioka Junji, Nakatani Kaname, Komada Yoshihiro, Mizutani Shuki, Takagi Masatoshi. Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome. Mol Carcinog. 2013.10; 52 (10): 770-776.

Takagi M, Piao J, Lin L, Kawaguchi H, Imai C, Ogawa A, Watanabe A, Akiyama K, Kobayashi C, Mori M, Ko K, Sugimoto M, Mizutani S. Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML. Leukemia. 2013.09; 27 (9): 1926-1928.

Machida Shizuka, Tomizawa Daisuke, Tamaichi Hiroyuki, Okawa Teppei, Endo Akifumi, Imai Kohsuke, Nagasawa Masayuki, Morio Tomohiro, Mizutani Shuki, Takagi Masatoshi. Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. J Pediatr Hematol Oncol. 2013.08; 35 (6): 482-485.

Takagi Masatoshi, Sato Masaki, Piao Jinhua, Miyamoto Satoshi, Isoda Takeshi, Kitagawa Masanobu, Honda Hiroaki, Mizutani Shuki. ATM-dependent DNA damage-response pathway as a determinant in chronic myelogenous leukemia. DNA Repair (Amst). 2013.07; 12 (7): 500-507.

Unno Junya, Takagi Masatoshi, Piao Jinhua, Sugimoto Masataka, Honda Fumiko, Maeda Daisuke, Masutani Mitsuko, Kiyono Tohru, Watanabe Fumiaki, Morio Tomohiro, Teraoka Hirobumi, Mizutani Shuki. Artemis-dependent DNA double-strand break formation at stalled replication forks. Cancer Sci. 2013.06; 104 (6): 703-710.

Isoda Takeshi, Mitsuiki Noriko, Ohkawa Teppei, Kaneko Setsuko, Endo Akifumi, Ono Toshiaki, Aoki Yuki, Tomizawa Daisuke, Kajiwara Michiko, Araki Satoshi, Nagasawa Masayuki, Morio Tomohiro, Takagi Masatoshi, Mizutani Shuki. Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. J Pediatr Hematol Oncol. 2013.05; 35 (4): e178-e182.

Tamaichi Hiroyuki, Sato Masaki, Porter Andrew C G, Shimizu Toshiaki, Mizutani Shuki, Takagi Masatoshi. Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor. Cancer Sci. 2013.02; 104 (2): 178-184.

Mizutani Shuki, Takagi Masatoshi. XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. Int J Hematol. 2013.01; 97 (1): 37-42.

Isoda Takeshi, Takagi Masatoshi, Piao Jinhua, Nakagama Shun, Sato Masaki, Masuda Kyoko, Ikawa Tomokatsu, Azuma Miyuki, Morio Tomohiro, Kawamoto Hiroshi, Mizutani Shuki. Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM. Blood. 2012.07; 120 (4): 789-799.

Honda Fumiko, Kano Hirotsugu, Kanegane Hirokazu, Nonoyama Shigeaki, Kim Eun-Sung, Lee Sang-Kyou, Takagi Masatoshi, Mizutani Shuki, Morio Tomohiro. The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol. 2012.04; 13 (4): 369-378.

Madoka Kuramitsu, Aiko Sato-Otsubo, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Toshiyuki Kitoh, Kumiko Goi, Kazuko Kudo, Tadashi Matsubayashi, Nobuo Mizue, Michio Ozeki, Atsuko Masumi, Haruka Momose, Kazuya Takizawa, Takuo Mizukami, Kazunari Yamaguchi, Seishi Ogawa, Etsuro Ito, Isao Hamaguchi. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012.03; 119 (10): 2376-2384.

Honda Fumiko, Hane Yumiko, Toma Tomoko, Yachie Akihiro, Kim Eun-Sung, Lee Sang-Kyou, Takagi Masatoshi, Mizutani Shuki, Morio Tomohiro. Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease. Biochem Biophys Res Commun. 2012.01; 417 (1): 162-168.

Takagi Kae, Kawaguchi Yasushi, Kawamoto Manabu, Ota Yuko, Tochimoto Akiko, Gono Takahisa, Katsumata Yasuhiro, Takagi Masatoshi, Hara Masako, Yamanaka Hisashi. Activation of the activin A-ALK-Smad pathway in systemic sclerosis. J Autoimmun. 2011.05; 36 (3-4): 181-188.

Takagi Masatoshi, Shinoda Kunihiro, Piao Jinhua, Mitsuiki Noriko, Takagi Mari, Matsuda Kazuyuki, Muramatsu Hideki, Doisaki Sayoko, Nagasawa Masayuki, Morio Tomohiro, Kasahara Yoshihito, Koike Kenichi, Kojima Seiji, Takao Akira, Mizutani Shuki. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011.03; 117 (10): 2887-2890.

Sato Masaki, Takagi Masatoshi, Mizutani Shuki. Irradiation-induced p53 expression is attenuated in cells with NQO1 C465T polymorphism. J Med Dent Sci. 2010.06; 57 (2): 139-145.

Kawagishi Hiroyuki, Nakamura Hideaki, Maruyama Mitsuo, Mizutani Shuki, Sugimoto Kazushi, Takagi Masatoshi, Sugimoto Masataka. ARF suppresses tumor angiogenesis through translational control of VEGFA mRNA. Cancer Res. 2010.06; 70 (11): 4749-4758.

Nagasawa Masayuki, Mitsuiki Noriko, Ono Toshiaki, Takagi Masatoshi, Oda Hiromi, Yasuhara Masato, Mizutani Shuki. Pharmacokinetic monitoring is still required for intravenous busulfan in SCT for small children. Int J Hematol. 2010.05; 91 (4): 728-730.

Oba Daiju, Hayashi Masaharu, Minamitani Motoyuki, Hamano Shinichiro, Uchisaka Naoki, Kikuchi Akira, Kishimoto Hiroshi, Takagi Masatoshi, Morio Tomohiro, Mizutani Shuki. Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. Acta Neuropathol. 2010.04; 119 (4): 513-520.

Ichijima Yosuke, Yoshioka Ken-ichi, Yoshioka Yoshiko, Shinohe Keitaro, Fujimori Hiroaki, Unno Junya, Takagi Masatoshi, Goto Hidemasa, Inagaki Masaki, Mizutani Shuki, Teraoka Hirobumi. DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. PLoS One. 2010; 5 (1): e8821.

Morio Tomohiro, Takahashi Naomi, Watanabe Fumiaki, Honda Fumiko, Sato Masaki, Takagi Masatoshi, Imadome Ken-ichi, Miyawaki Toshio, Delia Domenico, Nakamura Kotoka, Gatti Richard A, Mizutani Shuki. Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int J Hematol. 2009.11; 90 (4): 455-462.

Isoda Takeshi, Ford Anthony M, Tomizawa Daisuke, van Delft Frederik W, De Castro David Gonzalez, Mitsuiki Norkio, Score Joannah, Taki Tomohiko, Morio Tomohiro, Takagi Masatoshi, Saji Hiroh, Greaves Mel, Mizutani Shuki. Immunologically silent cancer clone transmission from mother to offspring. Proc Natl Acad Sci U S A. 2009.10; 106 (42): 17882-17885.

Honda M, Takagi M, Chessa L, Morio T, Mizuatni S.. Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia. 2009.02; 23 (2): 409-414.

Kawagishi Hiroyuki, Wakoh Takeshi, Uno Hatsume, Maruyama Mitsuo, Moriya Ayako, Morikawa Satoru, Okano Hideyuki, Sherr Charles J, Takagi Masatoshi, Sugimoto Masataka. Hzf regulates adipogenesis through translational control of C/EBPalpha. EMBO J. 2008.05; 27 (10): 1481-1490.

Ono Makoto, Kashimada Kenichi, Miyai Kentaro, Onishi Toshikazu, Takagi Masatoshi, Honma Seijiro, Mizutani Shuki. In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS). Clin Pediatr Endocrinol. 2008; 17 (2): 49-56.

Horibe S, Takagi M, Unno J, Nagasawa M, Morio T, Arai A, Miura O, Ohta M, Kitagawa M, Mizutani S. DNA damage check points prevent leukemic transformation in myelodysplastic syndrome. Leukemia. 2007.10; 21 (10): 2195-2198.

Schneider Jochen G, Finck Brian N, Ren Jie, Standley Kara N, Takagi Masatoshi, Maclean Kirsteen H, Bernal-Mizrachi Carlos, Muslin Anthony J, Kastan Michael B, Semenkovich Clay F. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab. 2006.11; 4 (5): 377-389.

Takagi Masatoshi, Absalon Michael J, McLure Kevin G, Kastan Michael B. Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin. Cell. 2005.10; 123 (1): 49-63.

Kae Takagi, Masatoshi Takagi, Siva Kanangat, Kenneth J Warrington, Hidenobu Shigemitsu, Arnold E Postlethwaite. Modulation of TNF-alpha gene expression by IFN-gamma and pamidronate in murine macrophages: regulation by STAT1-dependent pathways. J. Immunol.. 2005.02; 174 (4): 1801-1810.

McLure Kevin G, Takagi Masatoshi, Kastan Michael B. NAD+ modulates p53 DNA binding specificity and function. Mol Cell Biol. 2004.11; 24 (22): 9958-9967.

Takagi Masatoshi, Tsuchida Rika, Oguchi Kaoru, Shigeta Teruko, Nakada Shinichiro, Shimizu Kimiko, Ohki Misao, Delia Domenico, Chessa Luciana, Taya Yoichi, Nakanishi Makoto, Tsunematsu Yukiko, Bessho Fumio, Isoyama Keiichi, Hayashi Yoshiki, Kudo Kazuko, Okamura Jun, Mizutani Shuki. Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. Blood. 2004.01; 103 (1): 283-290.

Oguchi Kaoru, Takagi Masatoshi, Tsuchida Rika, Taya Yoichi, Ito Etsuro, Isoyama Keiichi, Ishii Eiichi, Zannini Laura, Delia Domenico, Mizutani Shuki. Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. Blood. 2003.05; 101 (9): 3622-3627.

Tsuchida Rika, Miyauchi Jun, Shen Lisong, Takagi Masatoshi, Tsunematsu Yukiko, Saeki Morihiro, Honna Toshiro, Yamada Seiko, Teraoka Hirobumi, Kato Jun-Ya, Mizutani Shuki. Expression of cyclin-dependent kinase inhibitor p27/Kip1 and AP-1 coactivator p38/Jab1 correlates with differentiation of embryonal rhabdomyosarcoma. Jpn J Cancer Res. 2002.09; 93 (9): 1000-1006.

Tsuchida Rika, Yamada Takayuki, Takagi Masatoshi, Shimada Akira, Ishioka Chikashi, Katsuki Yoko, Igarashi Takashi, Chessa Luciana, Delia Domenico, Teraoka Hirobumi, Mizutani Shuki. Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast. Radiat Res. 2002.08; 158 (2): 195-201.

Sugimoto K, Tamayose K, Takagi M, Yamada K, Sasaki M, Mizutani S, Oshimi K. Activation of an ataxia telangiectasia mutation-dependent intra-S-phase checkpoint by anti-tumour drugs in HL-60 and human lymphoblastoid cells. Br J Haematol. 2000.09; 110 (4): 819-825.

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S. Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations. Cancer Res. 1999.06; 59 (11): 2602-2607.

Iwata S, Sato Y, Asada M, Takagi M, Tsujimoto A, Inaba T, Yamada T, Sakamoto S, Yata J, Shimogori T, Igarashi K, Mizutani S. Anti-tumor activity of antizyme which targets the ornithine decarboxylase (ODC) required for cell growth and transformation. Oncogene. 1999.01; 18 (1): 165-172.

Takagi M, Shigeta T, Asada M, Iwata S, Nakazawa S, Kanke Y, Ishimoto K, Mizutani S. DNA damage-associated cell cycle and cell death control is differentially modulated by caffeine in clones with p53 mutations. Leukemia. 1999.01; 13 (1): 70-77.

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S.. Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. Cancer Res. 1998.11; 58 (21): 4923-4929.

Takagi M, Takahiashi K, Maruyama T, Kaneko K, Obinata K, Tadokoro R, Kastumata K, Miura Y, Fujita H, Tokita A, Ishimoto K, Yabuta K. Acute lymphoblastic leukemia accompanied by severe hypercalcemia: successful treatment including aminohydroxypropylidene bisphosphonate (pamidronate disodium) Pediatr Hematol Oncol. 1998.05; 15 (3): 283-286.

Kaneko K, Takahashi K, Unno A, Takagi M, Maruyama T, Obinata K, Tsuchihashi N, Kawashiro N, Sakai H. Lingual cyst in infancy: importance of palpation for diagnosis. Acta Paediatr Jpn. 1997.08; 39 (4): 475-477.

Goi K, Takagi M, Iwata S, Delia D, Asada M, Donghi R, Tsunematsu Y, Nakazawa S, Yamamoto H, Yokota J, Tamura K, Saeki Y, Utsunomiya J, Takahashi T, Ueda R, Ishioka C, Eguchi M, Kamata N, Mizutani S. DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation. Cancer Res. 1997.05; 57 (10): 1895-1902.

Takagi M, Unno A, Maruyama T, Kaneko K, Obinata K. Human herpesvirus-6 (HHV-6)-associated hemophagocytic syndrome. Pediatr Hematol Oncol. 1996.09; 13 (5): 451-456.

Kaneko K, Unno A, Takagi M, Maruyama T, Obinata K. Kawasaki disease in dizygotic twins. Eur J Pediatr. 1995.10; 154 (10): 868.

髙木正稔. 小児血液腫瘍の視点から見た原発性免疫異常症 日本小児血液・がん学会雑誌. 2020.11; 57 (3): 257-263.

友田昂宏, 高木正稔. Shwachman-Diamond症候群におけるEFL1遺伝子変異 血液内科. 2020.06; 80 (6): 865-869.

荒木智徳, 佐々木由香, 小野寺貴恵, 園田悠紀, 鳥谷直紀, 石飛俊介, 今道祥二, 高木正稔, 益谷美都子. PARPとPARGを標的とする抗がん剤のバイオマーカー BIO Clinica. 2019.08; 34 (9): 951-958.

廣木遥, 高木正稔. SIFD症候群の分子病態 血液内科. 2019.06; 78 (6): 888-892.

岡田賢司, 水野美穂子, 森内浩幸, 楠田聡, 森岡一朗, 森雅亮, 岡本圭祐, 岡田邦之, 吉原重美, 山岸敬幸, 横山詩子, 久保田知洋, 工藤寿子, 高木正稔, 伊藤秀一, 金森豊, 笹原洋二, 日本小児科学会予防接種・感染症対策委員会「日本におけるパリビズマブの使用に関するガイドライン」改訂検討ワーキンググループ, 日本小児科学会, 日本新生児成育医学会, 日本小児感染症学会, 日本小児呼吸器学会, 日本小児循環器学会, 日本小児リウマチ学会, 日本小児血液・がん学会, 日本小児腎臓病学会, 日本小児外科学会, 日本免疫不全・自己炎症学会. 日本におけるパリビズマブの使用に関するコンセンサスガイドライン 日本小児科学会雑誌. 2019.05; 123 (5): 807-813.

半谷まゆみ, 関正史, 三谷友一, 樋渡光輝, 岩崎美和, 木村敬子, 副島尭史, 佐藤伊織, 松本公一, 康勝好, 真部淳, 高木正稔, 藤村純也, 滝田順子. 小児科スタッフが中高生以上のがん患者と関わる上で抱えている課題に関する質問紙調査 日本小児血液・がん学会雑誌. 2019; 56 (5): 447-453.

廣木遥, 高木正稔. 【小児疾患の診断治療基準】(第2部)疾患 生体防御・免疫不全 毛細血管拡張性運動失調症および類縁疾患 小児内科増刊. 2018.11; 50 244-245.

廣木遥, 岡野翼, 山下基, 足洗美穂, 宮本智史, 小林千佳, 青木由貴, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏. Epstein-Barrウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功したX連鎖リンパ増殖症候群1型の一例 日本小児血液・がん学会雑誌. 2017.04; 54 (1): 25-29.

足洗美穂, 金兼弘和, 今井耕輔, 木村菜美子, 陳菜穂, 岡野翼, 小野真太郎, 田中（久保田）真理, 宮本智史, 小林千佳, 満生紀子, 青木由貴, 田中絵里子, 高木正稔, 森尾友宏. 低または無ガンマグロブリン血症50例に対する皮下注用免疫グロブリン製剤導入 日本小児科学会雑誌. 2016.12; 120 (12): 1772-1781.

高木正稔, 浦山ケビン. 小児急性リンパ性白血病発症に寄与する遺伝子多型 臨床血液. 2016.07; 57 (7): 891-899.

萩原友紀, 高木正稔. 小児に特異的に生じる汎血球減少症 血液内科. 2016.06; 72 (6): 814-819.

高木正稔. 遺伝性疾患と造血器腫瘍 臨床血液. 2015.10; 56 (10): 1969-1977.

Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, Mizutani Shuki. 原発性免疫不全症候群関連の免疫性血小板減少症 臨床血液. 2013.04; 54 (4): 357-364.