Updated on 2025/04/04

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 42

  1. Whole-genome sequencing analysis of Japanese autism spectrum disorder trios Open Access

    Furukawa, S; Kushima, I; Kato, H; Kimura, H; Nawa, Y; Aleksic, B; Banno, M; Yamamoto, M; Uematsu, M; Nagasaki, Y; Ogi, T; Ozaki, N; Ikeda, M

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 79 ( 3 ) page: 87 - 97   2025.3

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  2. WHOLE GENOME SEQUENCING ANALYSIS OF JAPANESE ASD TRIOS: UNRAVELING PATHOGENIC VARIANTS Open Access

    Furukawa, S; Kushima, I; Kimura, H; Kato, H; Nawa, Y; Aleksic, B; Ogi, T; Ozaki, N; Ikeda, M

    INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY   Vol. 28   page: i59 - i59   2025.2

  3. Copy number variations in <i>RNF216</i> and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population Open Access

    Nakatochi, M; Kushima, I; Aleksic, B; Kimura, H; Kato, H; Inada, T; Torii, Y; Takahashi, N; Yamamoto, M; Iwamoto, K; Nawa, Y; Iritani, S; Iwata, N; Saito, T; Ninomiya, K; Okochi, T; Hashimoto, R; Yamamori, H; Yasuda, Y; Fujimoto, M; Miura, K; Ohi, K; Shioiri, T; Kitaichi, K; Itokawa, M; Arai, M; Miyashita, M; Toriumi, K; Takahashi, T; Suzuki, M; Kato, TA; Kanba, S; Horikawa, H; Kasai, K; Ikegame, T; Jinde, S; Kato, T; Kakiuchi, C; Yamagata, B; Nio, S; Kunii, Y; Yabe, H; Okamura, Y; Tadaka, S; Fumihiko, U; Obara, T; Yamamoto, Y; Arioka, Y; Mori, D; Ikeda, M; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 79 ( 1 ) page: 12 - 20   2025.1

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  4. Analysis of human neuronal cells carrying <i>ASTN2</i> deletion associated with psychiatric disorders Open Access

    Hayashi, Y; Okumura, H; Arioka, Y; Kushima, I; Mori, D; Lo, TY; Otgonbayar, G; Kato, H; Nawa, Y; Kimura, H; Aleksic, B; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 14 ( 1 ) page: 236   2024.6

  5. Extremely Low Frequency, Extremely Low Magnetic Environment for depression: An open-label trial Open Access

    Tachibana, M; Inada, T; Kimura, H; Ito, M; Kuwatsuka, Y; Kinoshita, F; Mori, D; Ohno, K

    ASIAN JOURNAL OF PSYCHIATRY   Vol. 96   page: 104036   2024.6

  6. Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice Open Access

    Mori, D; Ikeda, R; Sawahata, M; Yamaguchi, S; Kodama, A; Hirao, T; Arioka, Y; Okumura, H; Inami, C; Suzuki, T; Hayashi, Y; Kato, H; Nawa, Y; Miyata, S; Kimura, H; Kushima, I; Aleksic, B; Mizoguchi, H; Nagai, T; Nakazawa, T; Hashimoto, R; Kaibuchi, K; Kume, K; Yamada, K; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 14 ( 1 ) page: 138   2024.3

  7. Association between copy number variations in parkin (<i>PRKN</i>) and schizophrenia and autism spectrum disorder: A case-control study Open Access

    Lo, TY; Kushima, I; Kimura, H; Aleksic, B; Okada, T; Kato, H; Inada, T; Nawa, Y; Torii, Y; Yamamoto, M; Kimura, R; Funabiki, Y; Kosaka, H; Numata, S; Kasai, K; Sasaki, T; Yokoyama, S; Munesue, T; Hashimoto, R; Yasuda, Y; Fujimoto, M; Usami, M; Itokawa, M; Arai, M; Ohi, K; Someya, T; Watanabe, Y; Egawa, J; Takahashi, T; Suzuki, M; Yamasue, H; Iwata, N; Ikeda, M; Ozaki, N

    NEUROPSYCHOPHARMACOLOGY REPORTS   Vol. 44 ( 1 ) page: 42 - 50   2024.3

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  8. Machine learning algorithm-based estimation model for the severity of depression assessed using Montgomery-Asberg depression rating scale Open Access

    Shimamoto, M; Ishizuka, K; Ohtani, K; Inada, T; Yamamoto, M; Tachibana, M; Kimura, H; Sakai, Y; Kobayashi, K; Ozaki, N; Ikeda, M

    NEUROPSYCHOPHARMACOLOGY REPORTS   Vol. 44 ( 1 ) page: 115 - 120   2024.3

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  9. Indoleamine 2,3-dioxygenase 2 deficiency associates with autism-like behavior via dopaminergic neuronal dysfunction Open Access

    Ishikawa, M; Yamamoto, Y; Wulaer, B; Kunisawa, K; Fujigaki, H; Ando, T; Kimura, H; Kushima, I; Arioka, Y; Torii, Y; Mouri, A; Ozaki, N; Nabeshima, T; Saito, K

    FEBS JOURNAL   Vol. 291 ( 5 ) page: 945 - 964   2024.3

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  10. Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series Open Access

    Kimura, H; Kushima, I; Banno, M; Inada, T; Yoshimi, A; Aleksic, B; Ozaki, N

    NEUROPSYCHOPHARMACOLOGY REPORTS   Vol. 43 ( 2 ) page: 267 - 271   2023.6

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  11. The genetic architecture of schizophrenia: review of large-scale genetic studies

    Kato, H; Kimura, H; Kushima, I; Takahashi, N; Aleksic, B; Ozaki, N

    JOURNAL OF HUMAN GENETICS   Vol. 68 ( 3 ) page: 175 - 182   2023.3

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  12. Electroconvulsive therapy as a potential therapeutic option in psychiatric-onset prodromal dementia with Lewy bodies

    Kimura, H; Yokoyama, H; Torii, Y; Fujishiro, H

    INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY   Vol. 38 ( 1 ) page: e5863   2023.1

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  13. X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization Open Access

    Kushima, I; Aleksic, B; Kimura, H; Nakatochi, M; Lo, T; Ikeda, M; Arai, M; Hashimoto, R; Numata, S; Okamura, Y; Obara, T; Inada, T; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 12 ) page: 667 - 673   2022.12

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  14. Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder Open Access

    Kushima, I; Nakatochi, M; Aleksic, B; Okada, T; Kimura, H; Kato, H; Morikawa, M; Inada, T; Ishizuka, K; Torii, Y; Nakamura, Y; Tanaka, S; Imaeda, M; Takahashi, N; Yamamoto, M; Iwamoto, K; Nawa, Y; Ogawa, N; Iritani, S; Hayashi, Y; Lo, TY; Otgonbayar, G; Furuta, S; Iwata, N; Ikeda, M; Saito, T; Ninomiya, K; Okochi, T; Hashimoto, R; Yamamori, H; Yasuda, Y; Fujimoto, M; Miura, K; Itokawa, M; Arai, M; Miyashita, M; Toriumi, K; Ohi, K; Shioiri, T; Kitaichi, K; Someya, T; Watanabe, Y; Egawa, J; Takahashi, T; Suzuki, M; Sasaki, T; Tochigi, M; Nishimura, F; Yamasue, H; Kuwabara, H; Wakuda, T; Kato, TA; Kanba, S; Horikawa, H; Usami, M; Kodaira, M; Watanabe, K; Yoshikawa, T; Toyota, T; Yokoyama, S; Munesue, T; Kimura, R; Funabiki, Y; Kosaka, H; Jung, MY; Kasai, K; Ikegame, T; Jinde, S; Numata, S; Kinoshita, M; Kato, T; Kakiuchi, C; Yamakawa, K; Suzuki, T; Hashimoto, N; Ishikawa, S; Yamagata, B; Nio, S; Murai, T; Son, S; Kunii, Y; Yabe, H; Inagaki, M; Goto, Y; Okumura, Y; Ito, T; Arioka, Y; Mori, D; Ozaki, N

    BIOLOGICAL PSYCHIATRY   Vol. 92 ( 5 ) page: 362 - 374   2022.9

  15. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes Open Access

    Kimura, H; Nakatochi, M; Aleksic, B; Guevara, J; Toyama, M; Hayashi, Y; Kato, H; Kushima, I; Morikawa, M; Ishizuka, K; Okada, T; Tsurusaki, Y; Fujita, A; Miyake, N; Ogi, T; Takata, A; Matsumoto, N; Buxbaum, J; Ozaki, N; Sebat, J

    TRANSLATIONAL PSYCHIATRY   Vol. 12 ( 1 ) page: 265   2022.7

  16. Investigation of<i> OLIG2</i> as a candidate gene for schizophrenia and autism spectrum disorder Open Access

    Furuta, S; Aleksic, B; Nawa, Y; Kimura, H; Kushima, I; Ishizuka, K; Kato, H; Toyama, M; Arioka, Y; Mori, D; Morikawa, M; Inada, T; Ozaki, N

    NAGOYA JOURNAL OF MEDICAL SCIENCE   Vol. 84 ( 2 ) page: 260 - 268   2022.5

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  17. 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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    Language:English  

    DOI: 10.1002/npr2.12222

    PubMed

  18. Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder Open Access

    Wang, CY; Horigane, S; Wakamori, M; Ueda, S; Kawabata, T; Fujii, H; Kushima, I; Kimura, H; Ishizuka, K; Nakamura, Y; Iwayama, Y; Ikeda, M; Iwata, N; Okada, T; Aleksic, B; Mori, D; Yoshida, T; Bito, H; Yoshikawa, T; Takemoto-Kimura, S; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 12 ( 1 ) page: 84   2022.2

  19. Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population

    Lo, T; Kushima, I; Aleksic, B; Kato, H; Nawa, Y; Hayashi, Y; Otgonbayar, G; Kimura, H; Arioka, Y; Mori, D; Ozaki, N

    INTERNATIONAL REVIEW OF PSYCHIATRY   Vol. 34 ( 2 ) page: 154 - 167   2022.2

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  20. Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with <i>NBEA</i> deletion Open Access

    Kato, H; Kushima, I; Yoshimi, A; Ishizuka, K; Kimura, H; Aleksic, B; Takahashi, N; Okada, T; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 1 ) page: 36 - 38   2022.1

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  21. Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels Open Access

    Toyama, M; Takasaki, Y; Branko, A; Kimura, H; Kato, H; Nawa, Y; Kushima, I; Ishizuka, K; Shimamura, T; Ogi, T; Ozaki, N

    PLOS ONE   Vol. 17 ( 5 ) page: e0268321   2022

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

    Kimura, H; Mori, D; Aleksic, B; Ozaki, N

    NEUROSCIENCE RESEARCH   Vol. 170   page: 24 - 31   2021.9

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  23. 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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  24. 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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  25. Functional characterization of rare <i>NRXN1</i> variants identified in autism spectrum disorders and schizophrenia Open Access

    Ishizuka, K; Yoshida, T; Kawabata, T; Imai, A; Mori, H; Kimura, H; Inada, T; Okahisa, Y; Egawa, J; Usami, M; Kushima, I; Morikawa, M; Okada, T; Ikeda, M; Branko, A; Mori, D; Someya, T; Iwata, N; Ozaki, N

    JOURNAL OF NEURODEVELOPMENTAL DISORDERS   Vol. 12 ( 1 ) page: 25   2020.9

  26. <i>ARHGAP10</i>, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk Open Access

    Sekiguchi, M; Sobue, A; Kushima, I; Wang, CY; Arioka, Y; Kato, H; Kodama, A; Kubo, H; Ito, N; Sawahata, M; Hada, K; Ikeda, R; Shinno, M; Mizukoshi, C; Tsujimura, K; Yoshimi, A; Ishizuka, K; Takasaki, Y; Kimura, H; Xing, JR; Yu, YJ; Yamamoto, M; Okada, T; Shishido, E; Inada, T; Nakatochi, M; Takano, T; Kuroda, K; Amano, M; Aleksic, B; Yamomoto, T; Sakuma, T; Aida, T; Tanaka, K; Hashimoto, R; Arai, M; Ikeda, M; Iwata, N; Shimamura, T; Nagai, T; Nabeshima, T; Kaibuchi, K; Yamada, K; Mori, D; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 10 ( 1 ) page: 247   2020.7

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

    Nawa, Y; Kimura, H; Ishizuka, K; Kushima, I; Aleksic, B; Ozaki, N

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 29   page: S164 - S165   2019.10

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  29. Proteomic analysis of lymphoblastoid cell lines from schizophrenic patients (vol 9, 126, 2019) Open Access

    Yoshimi, A; Yamada, S; Kunimoto, S; Aleksic, B; Hirakawa, A; Ohashi, M; Matsumoto, Y; Hada, K; Itoh, N; Arioka, Y; Kimura, H; Kushima, I; Nakamura, Y; Shiino, T; Mori, D; Tanaka, S; Hamada, S; Noda, Y; Nagai, T; Yamada, K; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 9 ( 1 ) page: 146   2019.5

  30. Proteomic analysis of lymphoblastoid cell lines from schizophrenic patients Open Access

    Yoshimi, A; Yamada, S; Kunimoto, S; Aleksic, B; Hirakawa, A; Ohashi, M; Matsumoto, Y; Hada, K; Itoh, N; Arioka, Y; Kimura, H; Kushima, I; Nakamura, Y; Shiino, T; Mori, D; Tanaka, S; Hamada, S; Noda, Y; Nagai, T; Yamada, K; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 9 ( 1 ) page: 126   2019.4

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

    Kimura, H; Ishizuka, K; Wang, CY; Kushima, I; Morikawa, M; Uno, Y; Okada, T; Inanda, T; Aleksic, B; Mori, D; Ozaki, N

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 29   page: S1014 - S1014   2019

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

    Ishizuka, K; Kimura, H; Kushima, I; Inada, T; Okahisa, Y; Ikeda, M; Iwata, N; Mori, D; Aleksic, B; Ozaki, N

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

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

    Kushima, I; Aleksic, B; Nakatochi, M; Shimamura, T; Okada, T; Uno, Y; Morikawa, M; Ishizuka, K; Shiino, T; Kimura, H; Arioka, Y; Yoshimi, A; Takasaki, Y; Yu, Y; Nakamura, Y; Yamamoto, M; Iidaka, T; Iritani, S; Inada, T; Ogawa, N; Shishido, E; Torii, Y; Kawano, N; Omura, Y; Yoshikawa, T; Uchiyama, T; Yamamoto, T; Ikeda, M; Hashimoto, R; Yamamori, H; Yasuda, Y; Someya, T; Watanabe, Y; Egawa, J; Nunokawa, A; Itokawa, M; Arai, M; Miyashita, M; Kobori, A; Suzuki, M; Takahashi, T; Usami, M; Kodaira, M; Watanabe, K; Sasaki, T; Kuwabara, H; Tochigi, M; Nishimura, F; Yamasue, H; Eriguchi, Y; Benner, S; Kojima, M; Yassin, W; Munesue, T; Yokoyama, S; Kimura, R; Funabiki, Y; Kosaka, H; Ishitobi, M; Ohmori, T; Numata, S; Yoshikawa, T; Toyota, T; Yamakawa, K; Suzuki, T; Inoue, Y; Nakaoka, K; Goto, YI; Inagaki, M; Hashimoto, N; Kusumi, I; Son, S; Murai, T; Ikegame, T; Okada, N; Kasai, K; Kunimoto, S; Mori, D; Iwata, N; Ozaki, N

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

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

    Kimura, H; Kushima, I; Yohimi, A; Aleksic, B; Ozaki, N

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

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  37. 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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  38. 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, C; Kimura, H; Xing, J; Ishizuka, K; Kushima, I; Arioka, Y; Yoshimi, A; Nakamura, Y; Shiino, Y; Oya, Y; Takasaki, Y; Aleksic, B; Mori, D; Ozaki, N

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 27   page: S341 - S342   2017.10

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

    Ishizuka, K; Wang, CY; Kimura, H; Xing, JR; Kushima, I; Arioka, Y; Yoshimi, A; Nakamura, Y; Oya-Ito, T; Takasaki, Y; Uno, Y; Okada, T; Mori, D; Aleksic, B; Ozaki, N

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   Vol. 27   page: S162 - S163   2017.10

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

    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 ( 8 ) page: e1214   2017.8

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  41. Rare genetic variants in <i>CX3CR1</i> and their contribution to the increased risk of schizophrenia and autism spectrum disorders Open Access

    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, T; Yoshikawa, T; Iwata, N; Nakamura, H; Yamashita, T; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 7 ( 8 ) page: e1184   2017.8

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  42. 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, MC; Chuang, YA; Chen, CH; 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) 4

  1. A study to predict the prognosis of adolescent onset schizophrenia from the perspective of myelination

    Grant number:24K02386  2024.4 - 2027.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

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    Authorship:Coinvestigator(s) 

  2. ポリジェニックリスクスコアを活用した自閉スペクトラム症臨床表現型予測法の開発

    Grant number:24K10707  2024.4 - 2027.3

    科学研究費助成事業  基盤研究(C)

    木村 大樹

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    Authorship:Principal investigator 

    Grant amount:\4680000 ( Direct Cost: \3600000 、 Indirect Cost:\1080000 )

    自閉スペクトラム症(ASD)は遺伝率が高く、ゲノム解析によるアプローチによって、新規診断法・治療法開発が期待されている。本研究では、Rare variants が探索済みのASD患者を対象としたGWASを実施して様々な形質(精神疾患・精神症状)に関連する各種PRSを算出する。その後、ゲノム解析結果から予測される臨床表現型と実臨床における臨床表現型の整合性の評価を実施する。本結果から、ゲノム解析結果をASDの実臨床にて、より有用に使用する可能性を検証し、新規の診断法・治療法開発に繋げる。

  3. 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)

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    Authorship:Principal investigator 

    Grant amount:\17680000 ( Direct Cost: \13600000 、 Indirect Cost:\4080000 )

  4. Exome sequencing of multiplex families to elucidate pathophysiology of autism spectrum disorder

    Grant number:18K15512  2020.3 - 2022.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Early-Career Scientists

    KIMURA HIROKI

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    Authorship:Principal investigator 

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

    Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 320 cases and 299 controls including 17 ASD multiplex families, rare variants were associated with ASD within specific neurodevelopmental gene sets, including highly constrained genes, fragile X mental retardation protein target genes, and genes involved in synaptic function, with the strongest enrichment in trans-synaptic signaling (p = 4.4 × 10-4, Q-value = 0.06). In particular, we strengthen the evidence regarding the role of ABCA13, a synaptic function& related gene, in Japanese ASD. The overall results of this exome study showed that rare variants related to synaptic function are associated with ASD susceptibility in the Japanese population.