Faculty Profiles - KUSHIMA Itaru

Papers - KUSHIMA Itaru

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Copy Number Variations and Human Well-Being: Integrating Psychiatric, Physical, and Socioeconomic Perspectives Invited Reviewed

Itaru Kushima, Masahiro Nakatochi, Norio Ozak

Biological psychiatry 2024.12

Whole-genome sequencing analysis of Japanese autism spectrum disorder trios Reviewed

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

Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population Reviewed

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

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

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

NEUROPSYCHOPHARMACOLOGY REPORTS Vol. 44 ( 4 ) page： 847 - 851 2024.12

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

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

STEM CELL RESEARCH Vol. 81 2024.12

Inconsistent embryo selection across polygenic score methods Reviewed

Namba, S; Akiyama, M; Hamanoue, H; Kato, K; Kawashima, M; Kushima, I; Matsuda, K; Nakatochi, M; Ogishima, S; Sonehara, K; Suzuki, K; Takata, A; Tamiya, G; Tanikawa, C; Yamamoto, K; Yamamoto, N; BioBank Japan Project; Ozaki, N; Okada, Y

NATURE HUMAN BEHAVIOUR Vol. 8 ( 12 ) page： 2264 - 2267 2024.12

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

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

Association between copy number variations in parkin (PRKN) 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

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

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

De novo MCM6 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

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

The clinical and molecular spectrum of the KDM6B-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

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

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

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

A case of bipolar disorder with AIF1 (coding gene of Iba-1) deletion: A pilot in vitro 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

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

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

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

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

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

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

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

Nature Genetics 2022.9

Case series of four psychiatric patients with copy number variations in the neurexin 1 gene

Kushima, I; Inada, T; Ohi, K; Egawa, J; Ozaki, N

PSYCHIATRY AND CLINICAL NEUROSCIENCES REPORTS Vol. 1 ( 3 ) 2022.9

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

Exonic deletions in IMMP2L 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

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

Psychiatric patients with a de novo 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

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

Investigation of OLIG2 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

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

Case report of a female with bipolar disorder and MBD5 deletion

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

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

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

Psychiatry Clin Neurosci. 2022.3

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

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

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

Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with NBEA 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

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

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

Psychiatry Clin Neurosci. 2022

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

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

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

AKR1A1 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

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

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

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

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

Mice carrying a schizophrenia-associated mutation of the Arhgap10 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

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

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

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

Vol. 63 2021.1

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) 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

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

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

Rare single-nucleotide DAB1 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

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

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

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

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

ARHGAP10, 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Contribution of autosomal rare and de novo variants to sex differences in autism Reviewed International coauthorship

Mahmoud Koko, F Kyle Satterstrom; Autism Sequencing Consortium; APEX consortium; Varun Warrier, Hilary Martin

Am J Hum Genet Vol. 112 ( 3 ) page： 599 - 614 2025.3

Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population Reviewed

Hadi, AF; Arta, RK; Kushima, I; Egawa, J; Watanabe, Y; Ozaki, N; Someya, T

NEUROPSYCHOPHARMACOLOGY REPORTS Vol. 45 ( 1 ) 2025.3

Proposal for a Novel Classification of Patients With Enlarged Ventricles and Cognitive Impairment Based on Data-Driven Analysis of Neuroimaging Results in Patients With Psychiatric Disorders Reviewed

Yasuda, Y; Ito, S; Matsumoto, J; Okada, N; Onitsuka, T; Ikeda, M; Kushima, I; Sumiyoshi, C; Fukunaga, M; Nemoto, K; Miura, K; Hashimoto, N; Ohi, K; Takahashi, T; Sasabayashi, D; Koeda, M; Yamamori, H; Fujimoto, M; Takano, H; Hasegawa, N; Narita, H; Yamamoto, M; Tha, KK; Kikuchi, M; Kamishikiryo, T; Itai, E; Okubo, Y; Tateno, A; Nakamura, M; Kubota, M; Igarashi, H; Hirano, Y; Okada, G; Miyata, J; Numata, S; Abe, O; Yoshimura, R; Nakagawa, S; Yamasue, H; Ozaki, N; Kasai, K; Hashimoto, R

NEUROPSYCHOPHARMACOLOGY REPORTS Vol. 45 ( 1 ) 2025.3

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 Vol. 32 ( 12 ) page： 1551 - 1558 2024.12

Analysis of human neuronal cells carrying ASTN2 deletion associated with psychiatric disorders Reviewed

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

Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature Reviewed

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

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

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

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

Psychiatry Clin Neurosci. 2022.1

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

Psychiatry Clin Neurosci. 2022.1

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

Brain 2022

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

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

Psychiatr Genet. 2022

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

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

Front Genet. 2021.12

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

Sci Rep. 2021.6

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

Transl Psychiatry 2021.5

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

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

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

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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Papers - KUSHIMA Itaru