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A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models
http://hdl.handle.net/10069/00040553
http://hdl.handle.net/10069/000405538bd2d2e0-4cbd-42e7-80bb-ff332dad6123
名前 / ファイル | ライセンス | アクション |
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TraPsy11_132.pdf (1.7 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2021-03-19 | |||||
タイトル | ||||||
タイトル | A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models | |||||
言語 | ||||||
言語 | eng | |||||
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資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Morimoto, Yoshiro
× Morimoto, Yoshiro× Ono, Shinji× Yoshida, Shintaro× Mishima, Hiroyuki× Kinoshita, Akira× Tanaka, Takeshi× Komohara, Yoshihiro× Kurotaki, Naohiro× Kishino, Tatsuya× Okazaki, Yuji× Ozawa, Hiroki× Yoshiura, Koh-ichiro× Imamura, Akira |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Genetic and epidemiological evidence has suggested that genetic factors are important in schizophrenia, although its pathophysiology is poorly understood. This study used whole-exome sequencing to investigate potential novel schizophrenia-causing genes in a Japanese family containing several members affected by severe or treatment-resistant schizophrenia. A missense variant, chr12:132064747C>T (rs200626129, P2805L), in the E1A-binding protein P400 (EP400) gene completely segregated with schizophrenia in this family. Furthermore, numerous other EP400 mutations were identified in the targeted sequencing of a schizophrenia patient cohort. We also created two lines of Ep400 gene-edited mice, which had anxiety-like behaviours and reduced axon diameters. Our findings suggest that rs200626129 in EP400 is likely to cause schizophrenia in this Japanese family, and may lead to a better understanding and treatment of schizophrenia. | |||||
書誌情報 |
Translational Psychiatry 巻 11, 号 1, p. 132, 発行日 2021-01-27 |
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出版者 | Springer Nature | |||||
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収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2158-3188 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1038/s41398-021-01258-1 | |||||
権利 | ||||||
権利情報 | © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | |||||
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出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Translational Psychiatry, 11(1), art.no.132; 2021 |