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J-GLOBAL ID：202102218457585309   Reference number：21A0290469

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

自閉症スペクトラム障害と統合失調症で同定された希少NRXN1変異体の機能的特性化【JST・京大機械翻訳】

Author (20)： Ishizuka Kanako (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Yoshida Tomoyuki (Department of Molecular Neuroscience, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan) ,  Kawabata Takeshi (Institute for Protein Research, Osaka University, Osaka, Japan) ,  Imai Ayako (Department of Molecular Neuroscience, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan) ,  Mori Hisashi (Department of Molecular Neuroscience, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan) ,  Kimura Hiroki (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Inada Toshiya (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Okahisa Yuko (Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan) ,  Egawa Jun (Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan) ,  Usami Masahide (Department of Child and Adolescent Psychiatry, Kohnodai Hospital, National Center for Global Health and Medicine, Ichikawa, Japan) ,  Kushima Itaru (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Morikawa Mako (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Okada Takashi (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ikeda Masashi (Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan) ,  Branko Aleksic (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Mori Daisuke (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Mori Daisuke (Brain and Mind Research Center, Nagoya University, Nagoya, Japan) ,  Someya Toshiyuki (Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan) ,  Iwata Nakao (Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan) ,  Ozaki Norio (Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan)
Material： Journal of Neurodevelopmental Disorders (Web)
Volume： 12  Issue： 1  Page： 1-16  Publication year： 2020 
JST Material Number： U7327A  ISSN： 1866-1955  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Rare genetic variants contribu...

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Thesaurus term： interaction ,  steric conformation ,  gene ,  Genotype ,  *schizophrenia ,  Phenotype ,  three dimension ,  in vitro experiment ,  gene disruption ,  missense mutation ,  pathogenesis ,  in silico ,  Neurogenesis ,  Neurodevelopmental Disorder
Semi thesaurus term： *自閉症スペクトラム障害 ,  神経発達障害 , 【Automatic Indexing@JST】

Author keywords (8)： NRXN1 ,  Neurodevelopmental disorder ,  Autism spectrum disorders ,  Schizophrenia ,  Targeted resequencing ,  Ultra-rare variants ,  Missense variants ,  Genotype-phenotype

JST classification (1)： Basic psychiatry  (GR01020I)

Reference (87)：

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• Schizophrenia Bull; Engaging research domain criteria (RDoC): neurocircuitry in search of meaning; GI Elmer, PL Brown, PD Shepard; 42; 2016; 1090-1095; 10.1093/schbul/sbw096; citation_id=CR5

Terms in the title (5)： 自閉症スペクトラム障害 ,  統合失調症 ,  同定 ,  変異体 ,  特性化