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
KIMURA Hiroki
Degree 1
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Ph.D. （ 2015.3 Nagoya University ）
Research Areas 2
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Life Science / Genetics
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Life Science / Psychiatry
Current Research Project and SDGs 1
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精神疾患の遺伝学
Papers 21
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Severe and long-lasting neuropsychiatric symptoms after mild respiratory symptoms caused by COVID-19: A case report.
Jozuka R, Kimura H, Uematsu T, Fujigaki H, Yamamoto Y, Kobayashi M, Kawabata K, Koike H, Inada T, Saito K, Katsuno M, Ozaki N
Neuropsychopharmacology reports Vol. 42 ( 1 ) page： 114 - 119 2022.3
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Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder
Wang Chenyao, Horigane Shin-ichiro, Wakamori Minoru, Ueda Shuhei, Kawabata Takeshi, Fujii Hajime, Kushima Itaru, Kimura Hiroki, Ishizuka Kanako, Nakamura Yukako, Iwayama Yoshimi, Ikeda Masashi, Iwata Nakao, Okada Takashi, Aleksic Branko, Mori Daisuke, Yoshida Takashi, Bito Haruhiko, Yoshikawa Takeo, Takemoto-Kimura Sayaka, Ozaki Norio
TRANSLATIONAL PSYCHIATRY Vol. 12 ( 1 ) page： 84 2022.2
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Elucidation of molecular pathogenesis and drug development for psychiatric disorders from rare disease-susceptibility variants
Kimura Hiroki, Mori Daisuke, Aleksic Branko, Ozaki Norio
NEUROSCIENCE RESEARCH Vol. 170 page： 24 - 31 2021.9
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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 ) page： 421 2020.12
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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 ) page： 37 2020.11
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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 ) page： 25 2020.9
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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 ) page： 247 2020.7
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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
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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
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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
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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
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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
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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
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Single-cell trajectory analysis of human homogenous neurons carrying a rare RELN variant
Arioka Yuko, Shishido Emiko, Kubo Hisako, Kushima Itaru, Yoshimi Akira, Kimura Hiroki, Ishizuka Kanako, Aleksic Branko, Maeda Takuji, Ishikawa Mitsuru, Kuzumaki Naoko, Okano Hideyuki, Mori Daisuke, Ozaki Norio
TRANSLATIONAL PSYCHIATRY Vol. 8 ( 1 ) page： 129 2018.7
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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
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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 ( 1 ) page： 12 2018.1
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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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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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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
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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
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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
KAKENHI (Grants-in-Aid for Scientific Research) 2
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Long read sequencing to expand the accessible genetic architecture of autism
Grant number：21H02848 2021.4 - 2024.3
Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (B)
Authorship：Principal investigator
Grant amount：\17680000 （ Direct Cost: \13600000 、 Indirect Cost：\4080000 ）
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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
科学研究費助成事業 若手研究
木村 大樹
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。
本研究課題によって申請者は、自閉スペクトラム症（ASD）や統合失調症（SCZ）の発症に強い影響を及ぼすゲノム変異を同定する目的で、国内最大規模のASDケースコントロールサンプル（合計308名のASDと299名のコントール）やASD・SCZ多発家系（合計31家系）のエキソーム解析並びにエキソームデータ収集を実施した。ASDのエキソームケースコントロール解析によって、日本人ASD患者には、機能喪失変異が生じにくい遺伝子群、FMRPに関連する遺伝子群に加え、シナプス機能に関連する遺伝子群において、機能喪失変異やミスセンス変異が集積していることを証明した。さらに、シナプス機能に関連する遺伝子群の変異についてさらに詳細にGene Ontology解析を実施した結果、後シナプスのシグナル伝達に関わる遺伝子群への変異が集積していることが示唆された。ASDケースコントロール研究の結果については現在論文化中である。また、ASDケースコントロール研究で発症脆弱性変異であると示唆された変異に加えて、ASD多発家系解析によりde novo 変異に加え患者間で共有する変異を抽出して遺伝子ネットワーク解析を実施したところ、神経発達に重要な影響を持つSMARCA1Aを中心とする遺伝子ネットワークを同定した。さらにSCZの多発14家系のエクソームデータから、各家系内で患者群に集積している変異についてGene Ontology解析を実施した結果、SCZ多発家系内には、カルシウムチャネル関連遺伝子群が集積していることが判明した。SCZ多発家系研究の結果は、現在投稿中である。