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