Updated on 2024/10/02

写真a

 
KUSHIMA Itaru
 
Organization
Nagoya University Hospital Lecturer of hospital
Title
Lecturer of hospital

Degree 1

  1. 博士(医学) ( 2011.3   名古屋大学 ) 

Research Interests 8

  1. 双極性障害

  2. 自閉スペクトラム症

  3. 統合失調症

  4. 構造バリアント

  5. ゲノム

  6. 精神疾患

  7. 摂食障害

  8. ロングリードシーケンス

Research Areas 2

  1. Life Science / Psychiatry

  2. Life Science / Genome biology

Current Research Project and SDGs 1

  1. ゲノム解析に基づいた精神疾患の病態解明

Research History 5

  1. Nagoya University   Lecturer of hospital

    2019.4

  2. Nagoya University   Designated assistant professor

    2014.4 - 2019.3

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    Country:Japan

  3. 医療法人 八誠会 守山荘病院

    2011.4 - 2014.3

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    Country:Japan

  4. Nagoya University

    2007.4 - 2008.3

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    Country:Japan

  5. 名古屋掖済会病院 研修医

    2005.4 - 2007.3

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    Country:Japan

Education 2

  1. Nagoya University   Graduate School, Division of Medical Sciences

    - 2011

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    Country: Japan

  2. Nagoya University   Faculty of Medicine

    - 2005

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    Country: Japan

Professional Memberships 5

  1. 日本精神神経学会

  2. 日本生物学的精神医学会

  3. 日本統合失調症学会

  4. 日本人類遺伝学会

  5. 日本神経精神薬理学会

    2023.3

Committee Memberships 2

  1.   ゲノム解析研究専門審査委員会  

    2020.4   

  2.   東海精神神経学会・運営委員  

    2019   

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    Committee type:Academic society

Awards 4

  1. 2018年度精神医学奨励賞

    2019.1   日本精神神経学会    Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

  2. 第25回日本生物学的精神医学会学術賞

    2017.9   日本生物学的精神医学会  

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    Award type:Award from Japanese society, conference, symposium, etc.  Country:Japan

  3. 第5回若手研究者育成プログラム奨励賞

    2016.9   日本生物学的精神医学会   ゲノムコピー数変異(CNV)解析に基づいた精神疾患の分子病態研究

  4. 第4回学術賞 優秀賞

    2013.4   日本統合失調症学会   ゲノム解析に基づいた統合失調症の病態解明

 

Papers 109

  1. Generation of induced pluripotent stem cells from a schizophrenia patient with heterozygous 1q21.1 deletion

    Okumura, H; Hayashi, Y; Arioka, Y; Kushima, I; Mori, D; Ozaki, N

    STEM CELL RESEARCH   Vol. 81   2024.12

  2. Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects

    Furukawa, S; Arafuka, S; Kato, H; Ogi, T; Ozaki, N; Ikeda, M; Kushima, I

    NEUROPSYCHOPHARMACOLOGY REPORTS     2024.8

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

    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 )   2024.6

  4. Mice with deficiency in <i>Pcdh15</i>, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature

    Mori, D; Inami, C; Ikeda, R; Sawahata, M; Urata, S; Yamaguchi, ST; Kobayashi, Y; Fujita, K; Arioka, Y; Okumura, H; Kushima, I; Kodama, A; Suzuki, T; Hirao, T; Yoshimi, A; Sobue, A; Ito, T; Noda, Y; Mizoguchi, H; Nagai, T; Kaibuchi, K; Okabe, S; Nishiguchi, K; Kume, K; Yamada, K; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 14 ( 1 )   2024.5

  5. Oxytocin-induced increases in cytokines and clinical effect on the core social features of autism: Analyses of RCT datasets

    Wakuda, T; Benner, S; Uemura, Y; Nishimura, T; Kojima, M; Kuroda, M; Matsumoto, K; Kanai, C; Inada, N; Harada, T; Kameno, Y; Munesue, T; Inoue, J; Umemura, K; Yamauchi, A; Ogawa, N; Kushima, I; Suyama, S; Saito, T; Hamada, J; Kano, Y; Honda, N; Kikuchi, S; Seto, M; Tomita, H; Miyoshi, N; Matsumoto, M; Kawaguchi, Y; Kanai, K; Ikeda, M; Nakamura, I; Isomura, S; Hirano, Y; Onitsuka, T; Ozaki, N; Kosaka, H; Okada, T; Kuwabara, H; Yamasue, H

    BRAIN BEHAVIOR AND IMMUNITY   Vol. 118   page: 398 - 407   2024.5

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

    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 )   2024.3

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  7. Indoleamine 2,3-dioxygenase 2 deficiency associates with autism-like behavior via dopaminergic neuronal dysfunction Reviewed

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

    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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  9. Mesenchymal stem/stromal cells generated from induced pluripotent stem cells are highly resistant to senescence Reviewed

    Aoi, T; Tanaka, A; Furuhashi, K; Ikeya, M; Shimizu, A; Arioka, Y; Kushima, I; Ozaki, N; Maruyama, S

    NAGOYA JOURNAL OF MEDICAL SCIENCE   Vol. 85 ( 4 ) page: 682 - 690   2023.11

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  10. Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions Reviewed

    Furukawa, S; Kushima, I; Aleksic, B; Ozaki, N

    NEUROPSYCHOPHARMACOLOGY REPORTS   Vol. 43 ( 3 ) page: 462 - 466   2023.9

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    Authorship:Corresponding author   Language:English  

    DOI: 10.1002/npr2.12340

    Web of Science

    PubMed

  11. De novo<i> MCM6</i> variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues Reviewed

    Smits, DJ; Schot, R; Popescu, CA; Dias, KR; Ades, L; Briere, LC; Sweetser, DA; Kushima, I; Aleksic, B; Khan, S; Karageorgou, V; Ordonez, N; Sleutels, FJGT; van der Kaay, DCM; Van Mol, C; Van Esch, H; Bertoli-Avella, AM; Roscioli, T; Mancini, GMS

    HUMAN GENETICS   Vol. 142 ( 7 ) page: 949 - 964   2023.7

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  12. Structural aging of human neurons is opposite of the changes in schizophrenia Reviewed

    Mizutani, R; Saiga, R; Yamamoto, Y; Uesugi, M; Takeuchi, A; Uesugi, K; Terada, Y; Suzuki, Y; De Andrade, V; De Carlo, F; Takekoshi, S; Inomoto, C; Nakamura, N; Torii, Y; Kushima, I; Iritani, S; Ozaki, N; Oshima, K; Itokawa, M; Arai, M

    PLOS ONE   Vol. 18 ( 6 )   2023.6

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  13. The clinical and molecular spectrum of the <i>KDM6B</i>-related neurodevelopmental disorder Reviewed

    Rots, D; Jakub, TE; Keung, C; Lisenka, VELM; Banka, S; Pfundt, R; de Vries, BBA; van Jaarsveld, RH; Hopman, SMJ; van Binsbergen, E; Valenzuela, I; Hempel, M; Bierhals, T; Kortüm, F; Lecoquierre, F; Goldenberg, A; Hertz, JM; Andersen, CB; Kibaek, M; Prijoles, EJ; Stevenson, RE; Everman, DB; Patterson, WG; Meng, LY; Gijavanekar, C; De Dios, K; Lakhani, S; Levy, T; Wagner, M; Wieczorek, D; Benke, PJ; Garcia, MSL; Perrier, R; Sousa, SB; Almeida, PM; Simoes, MJ; Isidor, B; Deb, W; Schmanski, AA; Abdul-Rahman, O; Philippe, C; Bruel, AL; Faivre, L; Vitobello, A; Thauvin, C; Smits, JJ; Garavelli, L; Caraffi, SG; Peluso, F; Davis-Keppen, L; Platt, D; Royer, E; Leeuwen, L; Sinnema, M; Stegmann, APA; Stumpel, CTRM; Tiller, GE; Bosch, DSDLGM; Potgieter, ST; Joss, S; Splitt, M; Holden, S; Prapa, M; Foulds, N; Douzgou, S; Puura, K; Waltes, R; Chiocchetti, AG; Freitag, CM; Satterstrom, FK; De Rubeis, S; Buxbaum, J; Gelb, BD; Branko, A; Kushima, I; Howe, J; Scherer, SW; Arado, A; Baldo, C; Patat, O; Benedicte, D; Lopergolo, D; Santorelli, FM; Haack, TB; Dufke, A; Bertrand, M; Falb, RJ; Riess, A; Krieg, P; Spranger, S; Bedeschi, MF; Iascone, M; Josephi-Taylor, S; Roscioli, T; Buckley, MF; Liebelt, J; Dagli, AI; Aten, E; Hurst, ACE; Hicks, A; Suri, M; Aliu, E; Naik, S; Sidlow, R; Coursimault, J; Nicolas, G; Küpper, H; Petit, F; Ibrahim, V; Top, D; Di Cara, F; Louie, RJ; Stolerman, E; Brunner, HG; Vissers, LELM; Kramer, JM; Kleefstra, T

    AMERICAN JOURNAL OF HUMAN GENETICS   Vol. 110 ( 6 ) page: 963 - 978   2023.6

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  14. Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series Reviewed

    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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  15. Astrotactin 2 (ASTN2) regulates emotional and cognitive functions by affecting neuronal morphogenesis and monoaminergic systems Reviewed

    Ito, T; Yoshida, M; Aida, T; Kushima, I; Hiramatsu, Y; Ono, M; Yoshimi, A; Tanaka, K; Ozaki, N; Noda, Y

    JOURNAL OF NEUROCHEMISTRY   Vol. 165 ( 2 ) page: 211 - 229   2023.4

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  16. Molecular diagnosis of 405 individuals with autism spectrum disorder Reviewed

    Miyake, N; Tsurusaki, Y; Fukai, R; Kushima, I; Okamoto, N; Ohashi, K; Nakamura, K; Hashimoto, R; Hiraki, Y; Son, S; Kato, M; Sakai, Y; Osaka, H; Deguchi, K; Matsuishi, T; Takeshita, S; Fattal-Valevski, A; Ekhilevitch, N; Tohyama, J; Yap, P; Keng, WT; Kobayashi, H; Takubo, K; Okada, T; Saitoh, S; Yasuda, Y; Murai, T; Nakamura, K; Ohga, S; Matsumoto, A; Inoue, K; Saikusa, T; Hershkovitz, T; Kobayashi, Y; Morikawa, M; Ito, A; Hara, T; Uno, Y; Seiwa, C; Ishizuka, K; Shirahata, E; Fujita, A; Koshimizu, E; Miyatake, S; Takata, A; Mizuguchi, T; Ozaki, N; Matsumoto, N

    EUROPEAN JOURNAL OF HUMAN GENETICS     2023.3

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

    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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  18. A case of bipolar disorder with <i>AIF1</i> (coding gene of Iba-1) deletion: A pilot <i>in vitro</i> analysis using blood-derived microglia-like cells Reviewed

    Ohgidani, M; Kushima, I; Inamine, S; Kyuragi, S; Sagata, N; Nakao, T; Kanba, S; Ozaki, N; Kato, TA

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 77 ( 2 ) page: 128 - 130   2023.2

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  19. Clinical manifestations of schizophrenia in four patients with variants in voltage-gated calcium channel-encoding genes: a case series Reviewed

    Lo, TY; Kushima, I; Aleksic, B; Yoshimi, A; Someya, T; Watanabe, Y; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 77 ( 1 ) page: 57 - 59   2023.1

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  20. X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization Reviewed

    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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  21. Turner syndrome presenting with idiopathic regression: A case report Reviewed

    Mizobuchi, K; Kushima, I; Kato, H; Miyajima, M; Kimura, H; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 12 ) page: 680 - 682   2022.12

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  22. Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion Reviewed

    Okumura, H; Arioka, Y; Kushima, I; Mori, D; Ozaki, N

    STEM CELL RESEARCH   Vol. 64   2022.10

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  23. Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder Reviewed

    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

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.biopsych.2022.04.003

    Web of Science

    PubMed

  24. Contribution of copy number variations to the risk of severe eating disorders Reviewed

    Kushima, I; Imaeda, M; Tanaka, S; Kato, H; Oya-Ito, T; Nakatochi, M; Aleksic, B; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 9 ) page: 423 - 428   2022.9

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  25. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism Invited Reviewed

    Nature Genetics     2022.9

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

    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 )   2022.7

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  27. Exonic deletions in <i>IMMP2L</i> in schizophrenia with enhanced glycation stress subtype

    Yoshikawa, A; Kushima, I; Miyashita, M; Suzuki, K; Iino, K; Toriumi, K; Horiuchi, Y; Kawaji, H; Ozaki, N; Itokawa, M; Arai, M

    PLOS ONE   Vol. 17 ( 7 )   2022.7

  28. Treatment-resistant schizophrenia in patients with 3q29 deletion: A case series of four patients Reviewed

    Nawa, Y; Kushima, I; Aleksic, B; Yamamoto, M; Kimura, H; Banno, M; Hashimoto, R; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 7 ) page: 338 - 339   2022.7

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  29. Psychiatric patients with a <i>de novo</i> 17q12 deletion: Two case reports Reviewed

    Kushima, I; Uematsu, M; Ishizuka, K; Aleksic, B; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 7 ) page: 345 - 347   2022.7

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  30. Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia

    Chen, CH; Cheng, MC; Hu, TM; Ping, LY; Kushima, I; Aleksic, B

    PSYCHIATRIC GENETICS   Vol. 32 ( 3 ) page: 125 - 130   2022.6

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

    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

  32. Effect of a novel nasal oxytocin spray with enhanced bioavailability on autism: a randomized trial

    Yamasue, H; Kojima, M; Kuwabara, H; Kuroda, M; Matsumoto, K; Kanai, C; Inada, N; Owada, K; Ochi, K; Ono, N; Benner, S; Wakuda, T; Kameno, Y; Inoue, J; Harada, T; Tsuchiya, K; Umemura, K; Yamauchi, A; Ogawa, N; Kushima, I; Ozaki, N; Suyama, S; Saito, T; Uemura, Y; Hamada, J; Kano, Y; Honda, N; Kikuchi, S; Seto, M; Tomita, H; Miyoshi, N; Matsumoto, M; Kawaguchi, Y; Kanai, K; Ikeda, M; Nakamura, I; Isomura, S; Hirano, Y; Onitsuka, T; Kosaka, H; Okada, T

    BRAIN   Vol. 145 ( 2 ) page: 490 - 499   2022.4

  33. Case report of a female with bipolar disorder and <i>MBD5</i> deletion

    Kushima, I; Lo, T; Aleksic, B; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 4 ) page: 127 - 128   2022.4

  34. Variable psychiatric manifestations in patients with 16p11.2 duplication: a case series of 4 patients. Reviewed

    Psychiatry Clin Neurosci.     2022.3

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    Authorship:Corresponding author   Language:English  

  35. Variable psychiatric manifestations in patients with 16p11.2 duplication: a case series of 4 patients

    Hayashi, Y; Kushima, I; Aleksic, B; Senaha, T; Ozaki, N

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 3 ) page: 86 - 88   2022.3

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

    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 )   2022.2

  37. 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

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

    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

  39. Trends in big data analyses by multicenter collaborative translational research in psychiatry

    Onitsuka, T; Hirano, Y; Nemoto, K; Hashimoto, N; Kushima, I; Koshiyama, D; Koeda, M; Takahashi, T; Noda, Y; Matsumoto, J; Miura, K; Nakazawa, T; Hikida, T; Kasai, K; Ozaki, N; Hashimoto, R

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 76 ( 1 ) page: 1 - 14   2022.1

  40. Case report of a female with bipolar disorder and MBD5 deletion. Reviewed

    Psychiatry Clin Neurosci.     2022

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    Authorship:Lead author, Corresponding author   Language:English  

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

    Transl Psychiatry     2022

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    Language:English   Publishing type:Research paper (scientific journal)  

  42. Cross-disorder analysis of genic and regulatory copy number variations in bipolar disorder, schizophrenia, and autism spectrum disorder Reviewed

    Itaru Kushima, Masahiro Nakatochi, Branko Aleksic, Takashi Okada, Hiroki Kimura, Hidekazu Kato, Mako Morikawa, Toshiya Inada, Kanako Ishizuka, Youta Torii, Yukako Nakamura, Satoshi Tanaka, Miho Imaeda, Nagahide Takahashi, Maeri Yamamoto, Kunihiro Iwamoto, Yoshihiro Nawa, Nanayo Ogawa, Shuji Iritani, Yu Hayashi, Tzuyao Lo, Gantsooj Otgonbayar, Sho Furuta, Nakao Iwata, Masashi Ikeda, Takeo Saito, Kohei Ninomiya, Tomo Okochi, Ryota Hashimoto, Hidenaga Yamamori, Yuka Yasuda, Michiko Fujimoto, Kenichiro Miura, Masanari Itokawa, Makoto Arai, Mitsuhiro Miyashita, Kazuya Toriumi, Kazutaka Ohi, Toshiki Shioiri, Kiyoyuki Kitaichi, Toshiyuki Someya, Yuichiro Watanabe, Jun Egawa, Tsutomu Takahashi, Michio Suzuki, Tsukasa Sasaki, Mamoru Tochigi, Fumichika Nishimura, Hidenori Yamasue, Hitoshi Kuwabara, Tomoyasu Wakuda, Takahiro A. Kato, Shigenobu Kanba, Hideki Horikawa, Masahide Usami, Masaki Kodaira, Kyota Watanabe, Takeo Yoshikawa, Tomoko Toyota, Shigeru Yokoyama, Toshio Munesue, Ryo Kimura, Yasuko Funabiki, Hirotaka Kosaka, Minyoung Jung, Kiyoto Kasai, Tempei Ikegame, Seiichiro Jinde, Shusuke Numata, Makoto Kinoshita, Tadafumi Kato, Chihiro Kakiuchi, Kazuhiro Yamakawa, Toshimitsu Suzuki, Naoki Hashimoto, Shuhei Ishikawa, Bun Yamagata, Shintaro Nio, Toshiya Murai, Shuraku Son, Yasuto Kunii, Hirooki Yabe, Masumi Inagaki, Yu-ichi Goto, Yuto Okumura, Tomoya Ito, Yuko Arioka, Daisuke Mori, Norio Ozaki

    Biological Psychiatry     2022

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    Authorship:Lead author, Corresponding author   Language:English  

  43. Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels

    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 )   2022

  44. <i>AKR1A1</i> Variant Associated With Schizophrenia Causes Exon Skipping, Leading to Loss of Enzymatic Activity

    Iino, K; Toriumi, K; Agarie, R; Miyashita, M; Suzuki, K; Horiuchi, Y; Niizato, K; Oshima, K; Imai, A; Nagase, Y; Kushima, I; Koike, S; Ikegame, T; Jinde, S; Nagata, E; Washizuka, S; Miyata, T; Takizawa, S; Hashimoto, R; Kasai, K; Ozaki, N; Itokawa, M; Arai, M

    FRONTIERS IN GENETICS   Vol. 12   2021.12

  45. Brain capillary structures of schizophrenia cases and controls show a correlation with their neuron structures

    Saiga, R; Uesugi, M; Takeuchi, A; Uesugi, K; Suzuki, Y; Takekoshi, S; Inomoto, C; Nakamura, N; Torii, Y; Kushima, I; Iritani, S; Ozaki, N; Oshima, K; Itokawa, M; Arai, M; Mizutani, R

    SCIENTIFIC REPORTS   Vol. 11 ( 1 )   2021.6

  46. Dysregulation of post-transcriptional modification by copy number variable microRNAs in schizophrenia with enhanced glycation stress

    Yoshikawa, A; Kushima, I; Miyashita, M; Toriumi, K; Suzuki, K; Horiuchi, Y; Kawaji, H; Takizawa, S; Ozaki, N; Itokawa, M; Arai, M

    TRANSLATIONAL PSYCHIATRY   Vol. 11 ( 1 )   2021.5

  47. Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders

    Saito, R; Miyoshi, C; Koebis, M; Kushima, I; Nakao, K; Mori, D; Ozaki, N; Funato, H; Yanagisawa, M; Aiba, A

    MOLECULAR BRAIN   Vol. 14 ( 1 )   2021.4

  48. Resequencing and association analysis of GAP43 with autism spectrum disorder and schizophrenia in a Japanese population Reviewed

    Arta Reza K., Watanabe Yuichiro, Inoue Emiko, Nawa Yoshihiro, Morikawa Ryo, Egawa Jun, Kushima Itaru, Igeta Hirofumi, Hoya Satoshi, Sugimoto Atsunori, Tanra Andi J., Ozaki Norio, Someya Toshiyuki

      Vol. 82   2021.4

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  49. Mice carrying a schizophrenia-associated mutation of the <i>Arhgap10</i> gene are vulnerable to the effects of methamphetamine treatment on cognitive function: association with morphological abnormalities in striatal neurons Reviewed

    Hada, K; Wulaer, B; Nagai, T; Itoh, N; Sawahata, M; Sobue, A; Mizoguchi, H; Mori, D; Kushima, I; Nabeshima, T; Ozaki, N; Yamada, K

    MOLECULAR BRAIN   Vol. 14 ( 1 )   2021.1

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  50. Structural diverseness of neurons between brain areas and between cases Reviewed

    Mizutani Ryuta, Saiga Rino, Yamamoto Yoshiro, Uesugi Masayuki, Takeuchi Akihisa, Uesugi Kentaro, Terada Yasuko, Suzuki Yoshio, De Andrade Vincent, De Carlo Francesco, Takekoshi Susumu, Inomoto Chie, Nakamura Naoya, Torii Youta, Kushima Itaru, Iritani Shuji, Ozaki Norio, Oshima Kenichi, Itokawa Masanari, Arai Makoto

      Vol. 11 ( 1 )   2021.1

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  51. Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies Reviewed

    Nakatochi, M; Kushima, I; Ozaki, N

    JOURNAL OF HUMAN GENETICS   Vol. 66 ( 1 ) page: 25 - 37   2021.1

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  52. Chromosome 22q11.2 deletion causes PERK-dependent vulnerability in dopaminergic neurons Reviewed

      Vol. 63   2021.1

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  53. Rare genetic variants in the gene encoding histone lysine demethylase 4C (<i>KDM4C</i>) and their contributions to susceptibility to schizophrenia and autism spectrum disorder Reviewed

    Kato, H; Kushima, I; Mori, D; Yoshimi, A; Aleksic, B; Nawa, Y; Toyama, M; Furuta, S; Yu, YJ; Ishizuka, K; Kimura, H; Arioka, Y; Tsujimura, K; Morikawa, M; Okada, T; Inada, T; Nakatochi, M; Shinjo, K; Kondo, Y; Kaibuchi, K; Funabiki, Y; Kimura, R; Suzuki, T; Yamakawa, K; Ikeda, M; Iwata, N; Takahashi, T; Suzuki, M; Okahisa, Y; Takaki, M; Egawa, J; Someya, T; Ozaki, N

    TRANSLATIONAL PSYCHIATRY   Vol. 10 ( 1 )   2020.12

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  54. Involvement of nicotinic acetylcholine receptors in behavioral abnormalities and psychological dependence in schizophrenia-like model mice Reviewed

    Noda Yukihiro, Uchida Mizuki, Mouri Akihiro, Yamada Shokuro, Goto Sakika, Kitagaki Shinji, Mamiya Takayoshi, Kushima Itaru, Arioka Yuko, Ozaki Norio, Yoshimi Akira

      Vol. 41   page: 92 - 105   2020.12

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  55. Support vector machine-based classification of schizophrenia patients and healthy controls using structural magnetic resonance imaging from two independent sites Reviewed

    Yamamoto Maeri, Bagarinao Epifanio, Kushima Itaru, Takahashi Tsutomu, Sasabayashi Daiki, Inada Toshiya, Suzuki Michio, Iidaka Tetsuya, Ozaki Norio

      Vol. 15 ( 11 )   2020.11

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  56. Rare single-nucleotide <i>DAB1</i> variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility Reviewed

    Nawa, Y; Kimura, H; Mori, D; Kato, H; Toyama, M; Furuta, S; Yu, YJ; Ishizuka, K; Kushima, I; Aleksic, B; Arioka, Y; Morikawa, M; Okada, T; Inada, T; Kaibuchi, K; Ikeda, M; Iwata, N; Suzuki, M; Okahisa, Y; Egawa, J; Someya, T; Nishimura, F; Sasaki, T; Ozaki, N

    HUMAN GENOME VARIATION   Vol. 7 ( 1 )   2020.11

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

    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

      Vol. 12 ( 1 )   2020.9

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  58. The accumulation of advanced glycation end-products in a schizophrenic patient with a glyoxalase 1 frameshift mutation: An autopsy study Reviewed

    Torii Youta, Iritani Shuji, Sekiguchi Hirotaka, Habuchi Chikako, Fujishiro Hiroshige, Kushima Itaru, Kawakami Ito, Itokawa Masanari, Arai Makoto, Hayashida Shotaro, Masaki Katsuhisa, Kira Jun-ichi, Kawashima Kunihiro, Ozaki Norio

      Vol. 223   page: 356 - 358   2020.9

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  59. Morphological alteration of myelin-oligodendrocytes in a schizophrenic patient with 22q11.2 deletion syndrome: An autopsy study

    Torii, Y; Iritani, S; Marui, T; Sekiguchi, H; Habuchi, C; Fujishiro, H; Kushima, I; Oshima, K; Niizato, K; Hayashida, S; Masaki, K; Kira, J; Yoshida, M; Ozaki, N

    SCHIZOPHRENIA RESEARCH   Vol. 223   page: 353 - 355   2020.9

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  60. Effect of intranasal oxytocin on the core social symptoms of autism spectrum disorder: a randomized clinical trial Reviewed

    Yamasue, H; Okada, T; Munesue, T; Kuroda, M; Fujioka, T; Uno, Y; Matsumoto, K; Kuwabara, H; Mori, D; Okamoto, Y; Yoshimura, Y; Kawakubo, Y; Arioka, Y; Kojima, M; Yuhi, T; Owada, K; Yassin, W; Kushima, I; Benner, S; Ogawa, N; Eriguchi, Y; Kawano, N; Uemura, Y; Yamamoto, M; Kano, Y; Kasai, K; Higashida, H; Ozaki, N; Kosaka, H

    MOLECULAR PSYCHIATRY   Vol. 25 ( 8 ) page: 1849 - 1858   2020.8

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

    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 )   2020.7

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  62. A recurrentPJA1variant in trigonocephaly and neurodevelopmental disorders Reviewed

    Suzuki Toshimitsu, Suzuki Toshifumi, Raveau Matthieu, Miyake Noriko, Sudo Genki, Tsurusaki Yoshinori, Watanabe Takaki, Sugaya Yuki, Tatsukawa Tetsuya, Mazaki Emi, Shimohata Atsushi, Kushima Itaru, Aleksic Branko, Shiino Tomoko, Toyota Tomoko, Iwayama Yoshimi, Nakaoka Kentaro, Ohmori Iori, Sasaki Aya, Watanabe Ken, Hirose Shinichi, Kaneko Sunao, Inoue Yushi, Yoshikawa Takeo, Ozaki Norio, Kano Masanobu, Shimoji Takeyoshi, Matsumoto Naomichi, Yamakawa Kazuhiro

    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY   Vol. 7 ( 7 ) page: 1117 - 1131   2020.7

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    DOI: 10.1002/acn3.51093

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

    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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    DOI: 10.1111/pcn.12993

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  64. Cell body shape and directional movement stability in human-induced pluripotent stem cell-derived dopaminergic neurons Reviewed

    Arioka Yuko, Shishido Emiko, Kushima Itaru, Mori Daisuke, Ozaki Norio

    SCIENTIFIC REPORTS   Vol. 10 ( 1 )   2020.4

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    DOI: 10.1038/s41598-020-62598-4

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  65. Cutting-edge morphological studies of post-mortem brains of patients with schizophrenia and potential applications of X-ray nanotomography (nano-CT)

    Itokawa Masanari, Oshima Kenichi, Arai Makoto, Torii Yota, Kushima Itaru, Iritani Shuji, Ozaki Norio, Saiga Rino, Mizutani Ryuta

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 74 ( 3 ) page: 176 - 182   2020.3

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    DOI: 10.1111/pcn.12957

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  66. Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus

    Saito Ryo, Koebis Michinori, Nagai Taku, Shimizu Kimiko, Liao Jingzhu, Wulaer Bolati, Sugaya Yuki, Nagahama Kenichiro, Uesaka Naofumi, Kushima Itaru, Mori Daisuke, Maruyama Kazuaki, Nakao Kazuki, Kurihara Hiroki, Yamada Kiyofumi, Kano Masanobu, Fukada Yoshitaka, Ozaki Norio, Aiba Atsu

    TRANSLATIONAL PSYCHIATRY   Vol. 10 ( 1 )   2020.2

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    DOI: 10.1038/s41398-020-0723-z

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  67. Characterization of a schizophrenia patient with a rare RELN deletion by combining genomic and patient-derived cell analyses

    Arioka Yuko, Hirata Akihiro, Kushima Itaru, Aleksic Branko, Mori Daisuke, Ozaki Norio

    SCHIZOPHRENIA RESEARCH   Vol. 216   page: 511 - 515   2020.2

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    DOI: 10.1016/j.schres.2019.10.038

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  68. Polygenic risk scores in schizophrenia with clinically significant copy number variants

    Taniguchi Satoru, Ninomiya Kohei, Kushima Itaru, Saito Takeo, Shimasaki Ayu, Sakusabe Takaya, Momozawa Yukihide, Kubo Michiaki, Kamatani Yoichiro, Ozaki Norio, Ikeda Masashi, Iwata Nakao

    PSYCHIATRY AND CLINICAL NEUROSCIENCES   Vol. 74 ( 1 ) page: 35 - 39   2020.1

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    DOI: 10.1111/pcn.12926

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  69. A network of networks approach for modeling interconnected brain tissue-specific networks

    Kawakubo Hideko, Matsui Yusuke, Kushima Itaru, Ozaki Norio, Shimamura Teppei

    BIOINFORMATICS   Vol. 35 ( 17 ) page: 3092 - 3101   2019.9

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    DOI: 10.1093/bioinformatics/btz032

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  70. In Vitro Modeling of the Bipolar Disorder and Schizophrenia Using Patient-Derived Induced Pluripotent Stem Cells with Copy Number Variations of PCDH15 and RELN

    Ishii Takaya, Ishikawa Mitsuru, Fujimori Koki, Maeda Takuji, Kushima Itaru, Arioka Yuko, Mori Daisuke, Nakatake Yuhki, Yamagata Bun, Nio Shintaro, Kato Takahiro A., Yang Nan, Wernig Marius, Kanba Shigenobu, Mimura Masaru, Ozaki Norio, Okano Hideyuki

    ENEURO   Vol. 6 ( 5 )   2019.9

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    DOI: 10.1523/ENEURO.0403-18.2019

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  71. Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect

    Ikeda Masashi, Takahashi Atsushi, Kamatanim Yoichiro, Momozawa Yukihide, Saito Takeo, Kondo Kenji, Shimasaki Ayu, Kawase Kohei, Sakusabe Takaya, Iwayama Yoshimi, Toyota Tomoko, Wakudas Tomoyasu, Kikuchi Mitsuru, Kanahara Nobuhisa, Yamamori Hidenaga, Yasuda Yuka, Watanabe Yuichiro, Hoya Satoshi, Aleksic Branko, Kushima Itaru, Arai Heii, Takaki Manabu, Hattori Kotaro, Kurrugi Hiroshi, Okahisa Yuko, Ohnuma Tohru, Ozaki Norio, Someya Toshiyuki, Hashimotovs Ryota, Yoshikawa Takeo, Kubo Michiaki, Iwata Nakao

    SCHIZOPHRENIA BULLETIN   Vol. 45 ( 4 ) page: 824 - 834   2019.7

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    DOI: 10.1093/schbul/sby140

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  72. Quantitative facial expression analysis revealed the efficacy and time course of oxytocin in autism

    Owada Keiho, Okada Takashi, Munesue Toshio, Kuroda Miho, Fujioka Toru, Uno Yota, Matsumoto Kaori, Kuwabara Hitoshi, Mori Daisuke, Okamoto Yuko, Yoshimura Yuko, Kawakubo Yuki, Arioka Yuko, Kojima Masaki, Yuhi Teruko, Yassin Walid, Kushima Itaru, Benner Seico, Ogawa Nanayo, Kawano Naoko, Eriguchi Yosuke, Uemura Yukari, Yamamoto Maeri, Kano Yukiko, Kasai Kiyoto, Higashida Haruhiro, Ozaki Norio, Kosaka Hirotaka, Yamasue Hidenori

    BRAIN   Vol. 142   page: 2127 - 2136   2019.7

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    DOI: 10.1093/brain/awz126

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  73. Proteomic analysis of lymphoblastoid cell lines from schizophrenic patients

    Yoshimi Akira, Yamada Shinnosuke, Kunimoto Shohko, Aleksic Branko, Hirakawa Akihiro, Ohashi Mitsuki, Matsumoto Yurie, Hada Kazuhiro, Itoh Norimichi, Arioka Yuko, Kimura Hiroki, Kushima Itaru, Nakamura Yukako, Shiino Tomoko, Mori Daisuke, Tanaka Satoshi, Hamada Shuko, Noda Yukihiro, Nagai Taku, Yamada Kiyofumi, Ozaki Norio

    TRANSLATIONAL PSYCHIATRY   Vol. 9   2019.4

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    DOI: 10.1038/s41398-019-0461-2

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  74. Three-dimensional alteration of neurites in schizophrenia

    Mizutani Ryuta, Saiga Rino, Takeuchi Akihisa, Uesugi Kentaro, Terada Yasuko, Suzuki Yoshio, De Andrade Vincent, De Carlo Francesco, Takekoshi Susumu, Inomoto Chie, Nakamura Naoya, Kushima Itaru, Iritani Shuji, Ozaki Norio, Ide Soichiro, Ikeda Kazutaka, Oshima Kenichi, Itokawa Masanari, Arai Makoto

    TRANSLATIONAL PSYCHIATRY   Vol. 9   2019.2

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    DOI: 10.1038/s41398-019-0427-4

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  75. 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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    DOI: 10.1016/j.euroneuro.2017.08.415

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  76. Dysregulation of schizophrenia-related aquaporin 3 through disruption of paranode influences neuronal viability

    Kunisawa Kazuo, Shimizu Takeshi, Kushima Itaru, Aleksic Branko, Mori Daisuke, Osanai Yasuyuki, Kobayashi Kenta, Taylor Anna M., Bhat Manzoor A., Hayashi Akiko, Baba Hiroko, Ozaki Norio, Ikenaka Kazuhiro

    JOURNAL OF NEUROCHEMISTRY   Vol. 147 ( 3 ) page: 395 - 408   2018.11

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    DOI: 10.1111/jnc.14553

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  77. 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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    DOI: 10.1097/YPG.0000000000000204

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

    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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    DOI: 10.1016/j.celrep.2018.08.022

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  79. Aberrant functional connectivity between the thalamus and visual cortex is related to attentional impairment in schizophrenia

    Yamamoto, M; Kushima, I; Suzuki, R; Branko, A; Kawano, N; Inada, T; Iidaka, T; Ozaki, N

    PSYCHIATRY RESEARCH-NEUROIMAGING   Vol. 278   page: 35 - 41   2018.8

  80. Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia

    Sobue Akira, Kushima Itaru, Nagai Taku, Shan Wei, Kohno Takao, Aleksic Branko, Aoyama Yuki, Mori Daisuke, Arioka Yuko, Kawano Naoko, Yamamoto Maeri, Hattori Mitsuharu, Nabeshima Toshitaka, Yamada Kiyofumi, Ozaki Norio

    SCIENTIFIC REPORTS   Vol. 8   2018.8

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    DOI: 10.1038/s41598-018-31390-w

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  81. Three lines of induced pluripotent stem cells derived from a 15q11.2-q13.1 duplication syndrome patient

    Arioka Yuko, Kushima Itaru, Mori Daisuke, Ozaki Norio

    STEM CELL RESEARCH   Vol. 31   page: 240 - 243   2018.8

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    DOI: 10.1016/j.scr.2018.08.004

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  82. 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   2018.7

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    DOI: 10.1038/s41398-018-0177-8

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  83. Induced pluripotent stem cells derived from a schizophrenia patient with ASTN2 deletion

    Arioka Yuko, Kushima Itaru, Kubo Hisako, Mori Daisuke, Ozaki Norio

    STEM CELL RESEARCH   Vol. 30   page: 81 - 84   2018.7

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    DOI: 10.1016/j.scr.2018.05.013

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  84. Induced pluripotent stem cells derived from a schizophrenia patient with ASTN2 deletion. Reviewed

    Arioka Y, Kushima I, Kubo H, Mori D, Ozaki N.

    Stem Cell Res.     2018.5

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    DOI: 10.1016/j.scr.2018.05.013.

  85. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

    Takata Atsushi, Miyake Noriko, Tsurusaki Yoshinori, Fukai Ryoko, Miyatake Satoko, Koshimizu Eriko, Kushima Itaru, Okada Takashi, Morikawa Mako, Uno Yota, Ishizuka Kanako, Nakamura Kazuhiko, Tsujii Masatsugu, Yoshikawa Takeo, Toyota Tomoko, Okamoto Nobuhiko, Hiraki Yoko, Hashimoto Ryota, Yasuda Yuka, Saitoh Shinji, Ohashi Kei, Sakai Yasunari, Ohga Shouichi, Hara Toshiro, Kato Mitsuhiro, Nakamura Kazuyuki, Ito Aiko, Seiwa Chizuru, Shirahata Emi, Osaka Hitoshi, Matsumoto Ayumi, Takeshita Saoko, Tohyama Jun, Saikusa Tomoko, Matsuishi Toyojiro, Nakamura Takumi, Tsuboi Takashi, Kato Tadafumi, Suzuki Toshifumi, Saitsu Hirotomo, Nakashima Mitsuko, Mizuguchi Takeshi, Tanaka Fumiaki, Mori Norio, Ozaki Norio, Matsumoto Naomichi

    CELL REPORTS   Vol. 22 ( 3 ) page: 734 - 747   2018.1

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    DOI: 10.1016/j.celrep.2017.12.074

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  86. 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

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    DOI: 10.1038/s41398-017-0061-y

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  87. 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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    Language:English   Publishing type:Research paper (scientific journal)  

    Web of Science

  88. 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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    Language:English   Publishing type:Research paper (scientific journal)  

    Web of Science

  89. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Lim Elaine T., Uddin Mohammed, De Rubeis Silvia, Chan Yingleong, Kamumbu Anne S., Zhang Xiaochang, D'Gama Alissa M., Kim Sonia N., Hill Robert Sean, Goldberg Arthur P., Poultney Christopher, Minshew Nancy J., Kushima Itaru, Aleksic Branko, Ozaki Norio, Parellada Mara, Arango Celso, Penzol Maria J., Carracedo Angel, Kolevzon Alexander, Hultman Christina M., Weiss Lauren A., Fromer Menachem, Chiocchetti Andreas G., Freitag Christine M., Church George M., Scherer Stephen W., Buxbaum Joseph D., Walsh Christopher A.

    NATURE NEUROSCIENCE   Vol. 20 ( 9 ) page: 1217 - +   2017.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/nn.4598

    Web of Science

    PubMed

  90. 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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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/tp.2017.170

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    PubMed

  91. 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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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/tp.2017.173

    Web of Science

    PubMed

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

    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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  93. 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

  94. Copy number variant in the region of adenosine kinase (ADK) and its possible contribution to schizophrenia susceptibility. Reviewed

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

    Int J Neuropsychopharmacol.     2017

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/ijnp/pyx103

  95. Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders. Reviewed

    Ishizuka K, Tabata H, Ito H, Kushima I, Noda M, Yoshimi A, Usami M, Watanabe K, Morikawa M, Uno Y, Okada T, Mori D, Aleksic B, Ozaki N, Nagata KI.

    J Neurosci Res.     2017

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1002/jnr.24194

  96. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. Reviewed

    Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G.

    PLoS Genet.   Vol. 12 ( 5 ) page: e1005993   2016.5

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  97. Trends in big data analyses by multicenter collaborative translational research in psychiatry. Invited Reviewed

    Psychiatry Clin Neurosci.     2022.1

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  98. Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with NBEA deletion. Reviewed

    Psychiatry Clin Neurosci.     2022.1

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    Authorship:Corresponding author   Language:English  

  99. Effect of a novel nasal oxytocin spray with enhanced bioavailability on autism: a randomized trial. Reviewed

    Brain     2022

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  100. Psychiatric patients with a de novo 17q12 deletion: two case reports. Reviewed

    Kushima I, Uematsu M, Ishizuka K, Aleksic B, Ozaki N.

    Psychiatry Clin Neurosci.     2022

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    Authorship:Lead author, Corresponding author   Language:English  

  101. Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia. Reviewed International coauthorship

    Psychiatr Genet.     2022

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    Language:English  

  102. Treatment-resistant schizophrenia in patients with 3q29 deletion: A case series of four patients. Reviewed

    Nawa Y, Kushima I, Aleksic B, Yamamoto M, Kimura H, Banno M, Hashimoto R, Ozaki N.

    Psychiatry Clin Neurosci.     2022

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  103. AKR1A1 Variant Associated With Schizophrenia Causes Exon Skipping, Leading to Loss of Enzymatic Activity. Reviewed

    Front Genet.     2021.12

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    Language:English  

  104. Brain capillary structures of schizophrenia cases and controls show a correlation with their neuron structures. Reviewed

    Sci Rep.     2021.6

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    Language:English  

  105. Dysregulation of post-transcriptional modification by copy number variable microRNAs in schizophrenia with enhanced glycation stress. Reviewed

    Transl Psychiatry     2021.5

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  106. Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders. Reviewed

    Mol Brain.     2021.4

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  107. Effect of intranasal oxytocin on the core social symptoms of autism spectrum disorder: a randomized clinical trial. Reviewed

    Yamasue H, Okada T, Munesue T, Kuroda M, Fujioka T, Uno Y, Matsumoto K, Kuwabara H, Mori D, Okamoto Y, Yoshimura Y, Kawakubo Y, Arioka Y, Kojima M, Yuhi T, Owada K, Yassin W, Kushima I, Benner S, Ogawa N, Eriguchi Y, Kawano N, Uemura Y, Yamamoto M, Kano Y, Kasai K, Higashida H, Ozaki N, Kosaka H.

    Mol Psychiatry.     2018.6

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1038/s41380-018-0097-2.

  108. Aberrant functional connectivity between the thalamus and visual cortex is related to attentional impairment in schizophrenia. Reviewed

    Yamamoto M, Kushima I, Suzuki R, Branko A, Kawano N, Inada T, Iidaka T, Ozaki N.

    Psychiatry Res Neuroimaging.     2018.6

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.pscychresns.2018.06.007.

  109. Single-neuron and genetic correlates of autistic behavior in macaque. Reviewed

    Yoshida K, Go Y, Kushima I, Toyoda A, Fujiyama A, Imai H, Saito N, Iriki A, Ozaki N, Isoda M.

    Sci Adv.   Vol. 2 ( 9 ) page: e1600558   2016.9

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Books 19

  1. 「心の病」の脳科学 なぜ生じるのか、どうすれば治るのか

    久島周( Role: Contributor ,  精神疾患の発症に強く関わるゲノム変異が見つかり始めた)

    講談社  2023.2 

  2. 脳科学と精神医学

    久島周( Role: Joint author)

    精神科専門医テキスト  2023 

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    Language:Japanese

  3. CNV検査の保険適用が統合失調症の診療に与えるインパクト

    久島周( Role: Joint author)

    臨床精神医学  2023.5 

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    Language:Japanese

  4. 統合失調症のゲノム解析と病態解析

    ( Role: Joint author)

    精神医学  2023.4 

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    Language:Japanese

  5. 摂食障害のゲノム研究

    久島周( Role: Joint author)

    臨床精神医学  2023.3 

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    Language:Japanese

  6. ゲノム情報を起点とした精神疾患の病態研究と人工知能の活用

    久島周( Role: Contributor)

    臨床精神薬理  2023.2 

  7. 重症の摂食障害におけるゲノムコピー数バリアントの寄与

    久島周( Role: Contributor)

    精神神経学雑誌  2023 

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    Language:Japanese

  8. 精神医学・遺伝学における症例報告の意義と倫理

    久島周( Role: Joint author)

    臨床精神医学  2022.2 

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    Language:Japanese

  9. 自閉スペクトラム症の発症に関わる ゲノムバリアント

    ( Role: Joint author)

    CLINICAL NEUROSCIENCE  2022 

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    Language:Japanese

  10. 精神科臨床 Legato ARHGAP10遺伝子変異と統合失調症発症の関連

    ( Role: Joint author)

    メディカルレビュー社  2021.3 

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    Language:Japanese

  11. 統合失調症の発症と自閉スペクトラム症とのオーバーラップ

    久島周( Role: Joint author)

    先端医学社  2021.3 

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    Language:Japanese

  12. 「精神医学における科学的基盤」 ゲノムと精神医学―精神疾患のゲノム基盤と遺伝環境相互作用解明はどのようにして精神医学にイノベーションをもたらすか

    学樹書院  2020.1 

  13. 細胞 稀なバリアントに着目した精神疾患のゲノム研究

    ニューサイエンス社  2019.12 

  14. 分子精神医学 ヒトゲノムコピー数変異(CNV)

    岩田仲生他( Role: Joint author)

    先端医学社  2015.4 

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  15. 図説 分子病態学 第5版 精神疾患:統合失調症と双極性障害

    一瀬白帝他( Role: Joint author)

    中外医学社  2014.1 

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    Language:Japanese

  16. ファインケミカル 精神障害のゲノム研究

    糸川昌成他( Role: Joint author)

    シーエムシー出版  2012.7 

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    広汎性発達障害,統合失調症,双極性障害などの精神障害の発症には遺伝因子が強く関与する。近年の大規模な全ゲノム関連解析とCNV 解析から上記精神障害の発症に関与する変異が同定され,分子病態の解明に向けて臨床・基礎研究ともに新たな展望が開けつつある。ゲノム研究は異なる障害間の病因・病態における連続性も明らかにしつつある。

  17. BRAIN and NERVE 発達期精神障害─発達障害を中心に

    笠井清登他( Role: Joint author)

    医学書院  2012 

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     DSM-IV-TR(Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision)では,発達期精神障害,すなわち幼児期,小児期,青年期に初めて診断される障害として,知的障害,学習障害,運動能力障害,コミュニケーション障害,広汎性発達障害,注意欠如・多動性障害(attention-deficit hyperactivity disorder:ADHD)および破壊的行動障害,幼児期または小児期早期の哺育・摂食障害,チック障害,排泄障害,幼児期・小児期・青年期のその他の障害が含まれる。診断される時期に基づいてカテゴリー化されているため多様な障害を含むが,有病率の高さからすれば,現在,発達障害と総称されている障害が主要なものである。
     発達障害には明確な定義はないが,脳機能の相違によって認知・行動面の偏りを生じ,そのために日常生活に困難をきたす状態をいう。発症因としては,多因子疾患の中では遺伝因子が比較的高いが,胎生期,周産期,出生後早期などの環境因子の関与も示されている。遺伝因子と環境因子の相互作用の分子基盤として,遺伝子のエピジェネティックな変化が発達障害の発症に寄与していることを示唆する知見も,近年報告されている。
     本稿では,発達障害の診断とその病態上の位置づけについて述べたうえで,遺伝子研究,画像研究の最新の知見を展望し,今後の研究の方向性について論じることとする。

  18. 精神医学キーワード辞典 うつ病の遺伝子・環境相関仮説

    松下正明他( Role: Joint author)

    中山書店  2011.7 

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    Language:Japanese

  19. 精神医学領域の論文を読みこなすキーワード100 ゲノムコピー数変異

    新興医学出版社 

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Presentations 11

  1. こころの病気にかかわる ゲノムバリアント(変異)の話

    久島周

    名古屋大学オープンレクチャー2024  2024.3.20  名古屋大学

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    Event date: 2024.3

  2. 重症の摂食症におけるゲノムコピー数バリアントの寄与

    久島周

    コホート・生体試料支援プラットフォーム  令和5年度若手支援研究成果発表会  2024.2.20 

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    Event date: 2024.2

  3. 統合失調症への新視角 最新のゲノム解析技術による洞察

    久島周

    第53回日本神経精神薬理学会年会  2023.9.7 

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    Event date: 2023.9

  4. 精神疾患のゲノム解析結果の患者・家族への還元

    久島周

    第119回日本精神神経学会学術総会  2023.6.24 

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    Event date: 2023.6

  5. 頻度の稀なバリアントに基づいた精神疾患の診断 ~統合失調症(SCZ)患者で見逃されている可能性がある遺伝性疾患~

    久島周

    第44回日本生物学的精神医学会 

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    Event date: 2022.11

    Language:Japanese   Presentation type:Symposium, workshop panel (public)  

  6. 精神疾患横断的に発症に関与するゲノムコピー数変異 統合失調症と自閉スペクトラム症に着目して

    久島周

    第43回日本生物学的精神医学会 

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    Event date: 2021.7

    Language:Japanese   Presentation type:Symposium, workshop panel (public)  

  7. 統合失調症のゲノム解析と診断法・治療薬開発への展開

    久島周

    第43回日本生物学的精神医学会  2021.7.14 

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    Event date: 2021.7

    Language:Japanese   Presentation type:Symposium, workshop panel (public)  

  8. 精神疾患横断的に発症に関与するゲノムコピー数変異統合失調症と自閉スペクトラム症に着目して

    日本人類遺伝学会 第65回大会  2020.11.18  日本人類遺伝学会

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    Event date: 2020.11 - 2020.12

    Language:Japanese  

  9. 統合失調症のゲノムコピー数変異(CNV)解析

    久島周他

    第10回日本統合失調症学会若手シンポジウム 

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    Event date: 2015.3

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

    Country:Japan  

    統合失調症の発症に遺伝要因が強く関与することが多数の疫学研究から支持されているが、長年、その分子基盤は不明であった。近年のゲノム解析技術の向上、サンプルサイズの大規模化を背景に、ここ数年で発症に強い影響を及ぼす稀な変異の同定が多数報告されるようになった。
    我々は、統合失調症を対象としたゲノムコピー数変異(CNV)解析を実施し、発症に強い影響を及ぼす稀な(<1%)CNVの探索を実施した。CNVは、染色体上の1kb 以上にわたるゲノムDNA が、通常2 コピーのところ、1 コピー以下(欠失)、あるいは3 コピー以上(重複)となる変異を指す。Array CGHを用いた高解像度のゲノムワイド解析から、XXXやXXYを含む大規模染色体異常をもつ患者を複数同定した。また近年報告されている1q21.1欠失、3q29欠失、15q11.2欠失、16p11.2重複、22q11.2欠失といった大規模反復性CNVを複数の患者で同定した。これらCNVはsegmental duplication (SD)と呼ばれるゲノム構造間で起こり、CNV領域に含まれる複数の神経発達関連遺伝子に影響を与え、発症に繋がると考えらえる。また上記の大規模CNVに加えて、1~少数の遺伝子に重なる小規模CNVを同定し、神経発達に重要な機能を持つ遺伝子に影響を及ぼすものを多数同定した。
    統合失調症ではどのような生物学的機能が障害を受けているかをさらに明確化するため、in silico解析を行い、患者で同定したCNVがシナプス関連遺伝子群に集積するとの知見も得られつつある。上述した個々のCNVは自閉症スペクトラム障害、双極性障害を含む他の疾患と関連するものが多く、精神疾患が現在の症候学に基づく診断体系にとらわれない病態上の連続性が示唆された。
     CNV解析から、本疾患の遺伝学的異質性の一端が明らかになったが、我々は同定したCNVを出発点に分子病態や臨床表現型・中間表現型との関連について検討を始めている(Genotype-First Approach)。具体的には、病的CNVをもつ患者からのiPS細胞樹立と分子病態研究への利用、CNVに基づいたモデル動物の作製・探索、同一CNVをもつ患者の臨床的表現型・中間表現型の検討である。
     以上、今回のシンポジウムでは、統合失調症のCNV解析に基づいた包括的な分子病態研究について述べる。

  10. 統合失調症のゲノムコピー数変異(CNV)解析

    久島周他

    第3回霊長類認知ゲノミクスワークショップ 

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    Event date: 2015.3

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

    Country:Japan  

  11. 臨床と遺伝子像 自閉スペクトラム症(ASD)の遺伝子解析から 最近わかってきたこと

    久島周他

    第4回日本情動学会 シンポジウム 

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    Event date: 2014.11

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

    Country:Japan  

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Research Project for Joint Research, Competitive Funding, etc. 3

  1. 精神疾患の統合的ゲノム解析と分子病態研究

    2017 - 2018

    先進医薬研究振興財団 平成29 年度(第11回)精神薬療分野 若手研究者助成金 

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    Grant type:Competitive

  2. 精神障害リスク変異22q11.2欠失と3q29欠失のモデル動物・iPS細胞を用いた分子病態研究

    2017 - 2018

    武田科学振興財団 2017年度医学系研究奨励 

    久島周

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    Grant type:Competitive

  3. 精神疾患のゲノムコピー数変異解析に基づく分子病態研究

    2017 - 2018

    豊秋奨励会 平成29年度 研究費助成 

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    Grant type:Competitive

KAKENHI (Grants-in-Aid for Scientific Research) 5

  1. 統合失調症のゲノムコピー数変異解析とバイオインフォマティクスを用いた分子病態研究

    2015 - 2017

    科学研究費補助金  若手研究(B)

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    Authorship:Principal investigator 

  2. 稀なゲノムコピー数変異に着目した統合失調症の分子病態研究

    2014 - 2015

    科学研究費補助金 

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    Authorship:Principal investigator 

  3. ノンコーディング領域と中間サイズの変異に着目した精神疾患の遺伝要因解明

    Grant number:21K07543   2021.4 - 2024.3

    科学研究費補助金  基盤研究(C)

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    Authorship:Principal investigator 

  4. ゲノムコピー数変異データに基づく精神疾患病態の多階層的理解

    Grant number:21H00194   2021.4 - 2023.3

    科学研究費補助金   新学術領域研究(研究領域提案型)

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    Authorship:Principal investigator  Grant type:Competitive

  5. Molecular analysis of bipolar disorder based on copy number variation

    Grant number:17H05090  2017.4 - 2020.3

    Kushima Itaru

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    Authorship:Principal investigator 

    Grant amount:\25480000 ( Direct Cost: \19600000 、 Indirect Cost:\5880000 )

    Genetic factors have an important role for the risk of bipolar disorder (BD), but the details remained unclear. In this study, we performed a genome-wide analysis of copy number variations (CNVs), which have been implicated in other psychiatric disorders. We found that CNVs previously associated with psychiatric disorders may increase the risk for BD. Further analysis of CNV data revealed the involvement of lipid metabolism in the pathogenesis of BD. We analyzed iPS cells derived from BD patients with specific BD-associated CNVs and observed morphological abnormalities of dendrites and synapses in neurons.

 

Teaching Experience (On-campus) 2

  1. 生涯健康と医学

    2020

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    精神疾患とゲノム

  2. Ph.D. Professional: Gateway to Success in Frontier Asia Young Mentorship Program, Genetic analysis of psychiatric diseases

    2014

 

Academic Activities 1

  1. 東海精神神経学会

    Role(s):Planning, management, etc.

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    Type:Academic society, research group, etc.