Updated on 2021/04/05

写真a

 
KIMURA Hiroki
 
Organization
Graduate School of Medicine Program in Integrated Medicine Clinical Neurosciences Lecturer
Graduate School
Graduate School of Medicine
Undergraduate School
School of Medicine Department of Medicine
Title
Lecturer

Degree 1

  1. Ph.D. ( 2015.3   Nagoya University ) 

Research Areas 2

  1. Life Science / Genetics

  2. Life Science / Psychiatry

Current Research Project and SDGs 1

  1. 精神疾患の遺伝学

 

Papers 18

  1. Elucidation of molecular pathogenesis and drug development for psychiatric disorders from rare disease-susceptibility variants.

    Kimura H, Mori D, Aleksic B, Ozaki N

    Neuroscience research     2020.12

  2. Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

    Kato Hidekazu, Kushima Itaru, Mori Daisuke, Yoshimi Akira, Aleksic Branko, Nawa Yoshihiro, Toyama Miho, Furuta Sho, Yu Yanjie, Ishizuka Kanako, Kimura Hiroki, Arioka Yuko, Tsujimura Keita, Morikawa Mako, Okada Takashi, Inada Toshiya, Nakatochi Masahiro, Shinjo Keiko, Kondo Yutaka, Kaibuchi Kozo, Funabiki Yasuko, Kimura Ryo, Suzuki Toshimitsu, Yamakawa Kazuhiro, Ikeda Masashi, Iwata Nakao, Takahashi Tsutomu, Suzuki Michio, Okahisa Yuko, Takaki Manabu, Egawa Jun, Someya Toshiyuki, Ozaki Norio

    TRANSLATIONAL PSYCHIATRY   Vol. 10 ( 1 )   2020.12

  3. Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility

    Nawa Yoshihiro, Kimura Hiroki, Mori Daisuke, Kato Hidekazu, Toyama Miho, Furuta Sho, Yu Yanjie, Ishizuka Kanako, Kushima Itaru, Aleksic Branko, Arioka Yuko, Morikawa Mako, Okada Takashi, Inada Toshiya, Kaibuchi Kozo, Ikeda Masashi, Iwata Nakao, Suzuki Michio, Okahisa Yuko, Egawa Jun, Someya Toshiyuki, Nishimura Fumichika, Sasaki Tsukasa, Ozaki Norio

    HUMAN GENOME VARIATION   Vol. 7 ( 1 )   2020.11

  4. Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

    Ishizuka Kanako, Yoshida Tomoyuki, Kawabata Takeshi, Imai Ayako, Mori Hisashi, Kimura Hiroki, Inada Toshiya, Okahisa Yuko, Egawa Jun, Usami Masahide, Kushima Itaru, Morikawa Mako, Okada Takashi, Ikeda Masashi, Branko Aleksic, Mori Daisuke, Someya Toshiyuki, Iwata Nakao, Ozaki Norio

    JOURNAL OF NEURODEVELOPMENTAL DISORDERS   Vol. 12 ( 1 )   2020.9

  5. ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk

    Sekiguchi Mariko, Sobue Akira, Kushima Itaru, Wang Chenyao, Arioka Yuko, Kato Hidekazu, Kodama Akiko, Kubo Hisako, Ito Norimichi, Sawahata Masahito, Hada Kazuhiro, Ikeda Ryosuke, Shinno Mio, Mizukoshi Chikara, Tsujimura Keita, Yoshimi Akira, Ishizuka Kanako, Takasaki Yuto, Kimura Hiroki, Xing Jingrui, Yu Yanjie, Yamamoto Maeri, Okada Takashi, Shishido Emiko, Inada Toshiya, Nakatochi Masahiro, Takano Tetsuya, Kuroda Keisuke, Amano Mutsuki, Aleksic Branko, Yamomoto Takashi, Sakuma Tetsushi, Aida Tomomi, Tanaka Kohichi, Hashimoto Ryota, Arai Makoto, Ikeda Masashi, Iwata Nakao, Shimamura Teppei, Nagai Taku, Nabeshima Toshitaka, Kaibuchi Kozo, Yamada Kiyofumi, Mori Daisuke, Ozaki Norio

    TRANSLATIONAL PSYCHIATRY   Vol. 10 ( 1 )   2020.7

  6. Generation and analysis of novel Reln-deleted mouse model corresponding to exonic Reln deletion in schizophrenia

    Sawahata Masahito, Mori Daisuke, Arioka Yuko, Kubo Hisako, Kushima Itaru, Kitagawa Kanako, Sobue Akira, Shishido Emiko, Sekiguchi Mariko, Kodama Akiko, Ikeda Ryosuke, Aleksic Branko, Kimura Hiroki, Ishizuka Kanako, Nagai Taku, Kaibuchi Kozo, Nabeshima Toshitaka, Yamada Kiyofumi, Ozaki Norio

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 74 ( 5 ) page: 318 - 327   2020.5

  7. INVESTIGATION OF RARE SINGLE-NUCLEOTIDE DAB1 VARIANTS AND ITS CONTRIBUTION TO SCHIZOPHRENIA AND AUTISM SPECTRUM DISORDER SUSCEPTIBILITY

    Nawa Yoshihiro, Kimura Hiroki, Ishizuka Kanako, Kushima Iraru, Aleksic Branko, Ozaki Norio

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 29   page: S164 - S165   2019.10

  8. A NOVEL RARE VARIANT R292H IN RTN4R AFFECTS GROWTH CONE FORMATION AND POSSIBLY CONTRIBUTES TO SCHIZOPHRENIA SUSCEPTIBILITY

    Kimura Hiroki, Ishizuka Kanako, Wang Chenyao, Kushima Itaru, Morikawa Mako, Uno Yota, Okada Takashi, Inanda Toshiya, Aleksic Branko, Mori Daisuke, Ozaki Norio

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 29   page: S1014 - S1014   2019

  9. TARGET SEQUENCING OF GENES INVOLVED IN NEURODEVELOPMENT FROM WHOLE GENOME COPY NUMBER VARIATION ANALYSIS OF JAPANESE SCHIZOPHRENIA

    Kimura Hiroki, Aleksic Branko, Ishizuka Kanako, Wang Chenyao, Kushima Itaru, Ozaki Norio

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 29   page: 1334 - 1334   2019

  10. Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia

    Ishizuka Kanako, Kimura Hiroki, Kushima Itaru, Inada Toshiya, Okahisa Yuko, Ikeda Masashi, Iwata Nakao, Mori Daisuke, Aleksic Branko, Ozaki Norio

    PSYCHIATRIC GENETICS   Vol. 28 ( 5 ) page: 90 - 93   2018.10

  11. Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

    Kushima Itaru, Aleksic Branko, Nakatochi Masahiro, Shimamura Teppei, Okada Takashi, Uno Yota, Morikawa Mako, Ishizuka Kanako, Shiino Tomoko, Kimura Hiroki, Arioka Yuko, Yoshimi Akira, Takasaki Yuto, Yu Yanjie, Nakamura Yukako, Yamamoto Maeri, Iidaka Tetsuya, Iritani Shuji, Inada Toshiya, Ogawa Nanayo, Shishido Emiko, Torii Youta, Kawano Naoko, Omura Yutaka, Yoshikawa Toru, Uchiyama Tokio, Yamamoto Toshimichi, Ikeda Masashi, Hashimoto Ryota, Yamamori Hidenaga, Yasuda Yuka, Someya Toshiyuki, Watanabe Yuichiro, Egawa Jun, Nunokawa Ayako, Itokawa Masanari, Arai Makoto, Miyashita Mitsuhiro, Kobori Akiko, Suzuki Michio, Takahashi Tsutomu, Usami Masahide, Kodaira Masaki, Watanabe Kyota, Sasaki Tsukasa, Kuwabara Hitoshi, Tochigi Mamoru, Nishimura Fumichika, Yamasue Hidenori, Eriguchi Yosuke, Benner Seico, Kojima Masaki, Yassin Walid, Munesue Toshio, Yokoyama Shigeru, Kimura Ryo, Funabiki Yasuko, Kosaka Hirotaka, Ishitobi Makoto, Ohmori Tetsuro, Numata Shusuke, Yoshikawa Takeo, Toyota Tomoko, Yamakawa Kazuhiro, Suzuki Toshimitsu, Inoue Yushi, Nakaoka Kentaro, Goto Yu-ichi, Inagaki Masumi, Hashimoto Naoki, Kusumi Ichiro, Son Shuraku, Murai Toshiya, Ikegame Tempei, Okada Naohiro, Kasai Kiyoto, Kunimoto Shohko, Mori Daisuke, Iwata Nakao, Ozaki Norio

    CELL REPORTS   Vol. 24 ( 11 ) page: 2838 - 2856   2018.9

  12. Copy Number Variant in the Region of Adenosine Kinase (ADK) and Its Possible Contribution to Schizophrenia Susceptibility

    Kimura Hiroki, Kushima Itaru, Yohimi Akira, Aleksic Branko, Ozaki Norio

    INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY   Vol. 21 ( 5 ) page: 405 - 409   2018.5

  13. Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility

    Yu Yanjie, Lin Yingni, Takasaki Yuto, Wang Chenyao, Kimura Hiroki, Xing Jingrui, Ishizuka Kanako, Toyama Miho, Kushima Itaru, Mori Daisuke, Arioka Yuko, Uno Yota, Shiino Tomoko, Nakamura Yukako, Okada Takashi, Morikawa Mako, Ikeda Masashi, Iwata Nakao, Okahisa Yuko, Takaki Manabu, Sakamoto Shinji, Someya Toshiyuki, Egawa Jun, Usami Masahide, Kodaira Masaki, Yoshimi Akira, Oya-Ito Tomoko, Aleksic Branko, Ohno Kinji, Ozaki Norio

    TRANSLATIONAL PSYCHIATRY   Vol. 8   2018.1

  14. IDENTIFICATION OF RARE DISRUPTIVE VARIANTS IN VOLTAGE-GATED CHANNEL GENES (CACNA1C, CACNA1D, CACNA1S, CACNA1I) IN JAPANESE SAMPLES OF SCHIZOPHRENIA AND AUTISM SPECTRUM DISORDER USING ION TORRENT PGM PLATFORM

    Wang Chenyao, Kimura Hiroki, Xing Jingrui, Ishizuka Kanoko, Kushima Itaru, Arioka Yuko, Yoshimi Akira, Nakamura Yukako, Shiino Yomoko, Oya Yuko, Takasaki Yuto, Aleksic Branko, Mori Daisuke, Ozaki Norio

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 27   page: S341 - S342   2017.10

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  15. MUTATION SCREENING OF THE PCDH15 GENE IN PATIENTS SUFFERING FROM AUTISM SPECTRUM DISORDERS AND SCHIZOPHRENIA

    Ishizuka Kanako, Wang Chenyao, Kimura Hiroki, Xing Jingrui, Kushima Itaru, Arioka Yuko, Yoshimi Akira, Nakamura Yukako, Oya-Ito Tomoko, Takasaki Yuto, Uno Yota, Okada Takashi, Mori Daisuke, Aleksic Branko, Ozaki Norio

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 27   page: S162 - S163   2017.10

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  16. A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility

    Kimura H., Fujita Y., Kawabata T., Ishizuka K., Wang C., Iwayama Y., Okahisa Y., Kushima I., Morikawa M., Uno Y., Okada T., Ikeda M., Inada T., Branko A., Mori D., Yoshikawa T., Iwata N., Nakamura H., Yamashita T., Ozaki N.

    TRANSLATIONAL PSYCHIATRY   Vol. 7   2017.8

  17. Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders

    Ishizuka K., Fujita Y., Kawabata T., Kimura H., Iwayama Y., Inada T., Okahisa Y., Egawa J., Usami M., Kushima I., Uno Y., Okada T., Ikeda M., Aleksic B., Mori D., Someya To, Yoshikawa T., Iwata N., Nakamura H., Yamashita T., Ozaki N.

    TRANSLATIONAL PSYCHIATRY   Vol. 7   2017.8

  18. High-resolution copy number variation analysis of schizophrenia in Japan

    Kushima I., Aleksic B., Nakatochi M., Shimamura T., Shiino T., Yoshimi A., Kimura H., Takasaki Y., Wang C., Xing J., Ishizuka K., Oya-Ito T., Nakamura Y., Arioka Y., Maeda T., Yamamoto M., Yoshida M., Noma H., Hamada S., Morikawa M., Uno Y., Okada T., Iidaka T., Iritani S., Yamamoto T., Miyashita M., Kobori A., Arai M., Itokawa M., Cheng M-C, Chuang Y-A, Chen C-H, Suzuki M., Takahashi T., Hashimoto R., Yamamori H., Yasuda Y., Watanabe Y., Nunokawa A., Someya T., Ikeda M., Toyota T., Yoshikawa T., Numata S., Ohmori T., Kunimoto S., Mori D., Iwata N., Ozaki N.

    MOLECULAR PSYCHIATRY   Vol. 22 ( 3 ) page: 430 - 440   2017.3

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KAKENHI (Grants-in-Aid for Scientific Research) 1

  1. 自閉スペクトラム症多発家系の大規模エクソーム解析に基づく疾患脆弱性因子の同定

    Grant number:18K15512  2020.3 - 2022.3

    若手研究

    木村 大樹

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    Authorship:Principal investigator 

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    自閉スペクトラム症を含む精神神経疾患は、同一家系内で集積性を有する場合があることが知られる。しかし、その遺伝的な要因は不明であることが多い。そこで本研究では、自閉スペクトラム症が同一家系内で複数人存在する家系を対象に、全ゲノム解析を実施し、精神疾患の家族集積性の原因解明を目指す。本研究で得られる成果は、診断補助ツールの開発、分子病態解明から創薬ターゲット分子の同定、にも繋がると期待される。
    本研究では、研究代表者が構築したエキソーム解析体制とこれまてに候補遺伝子内に疾患脆弱性変異を同定した経験を基に、自閉スペクトラム症の新規疾患脆弱性変異を同定するため、①日本人自閉スペクトラム症多発家系のゲノムサンプリング、②患者に加え健常家族も含めた家系全体のエキソーム解析、③家系解析に よりde novo 変異に加え患者間で共有する変異の抽出、④in silico解析による疾患脆弱性変異を基にした自閉スペクトラム症発症に関わる遺伝子ネットワーク 障害の特定、を実施する予定としている。平成30年度においては、自閉スペクトラム症多発17家系のエクソーム解析が終了し、構築したエクソーム解析パイプラインを用いて変異が検出できることを、サンガー法を用いて確認した。その後、検出された変異のクオリティを評価した上で、頻度が1%未満で、かつタンパク質機能に強い影響を与える変異を選択することで、疾患関連ゲノム変異(患者間で共有される変異、de novo変異)の抽出を行なった。その結果、神経発達障害データベースやSFARIデータベースで自閉スペクトラム症の発症に強い影響力を持つことが判明している遺伝子内において、疾患関連ゲノム変異を複数同定した。さらに、同定した疾患関連ゲノム変異は、神経発達に関連する遺伝子ネットワーク内に存在することが判明し、病態解明への手がかりを得ることが期待された。既に、追加の自閉スペクトラム症多発家系のサンプリングも行なっており、引き続きサンプリングを実施している。