| アイテムタイプ |
itemtype_ver1(1) |
| 公開日 |
2025-05-27 |
| タイトル |
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タイトル |
Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants |
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言語 |
en |
| 著者 |
Kondo, Reon
Mori, Daisuke
Wake, Hiroaki
Ozaki, Norio
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| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利 |
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権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
|
言語 |
en |
| キーワード |
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主題Scheme |
Other |
|
主題 |
genetic-first approach |
| キーワード |
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主題Scheme |
Other |
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主題 |
mouse models |
| キーワード |
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|
主題Scheme |
Other |
|
主題 |
rare disease susceptible variants |
| キーワード |
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主題Scheme |
Other |
|
主題 |
sensory processing |
| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Mental disorders are a major global cause of disability that involve significant disturbances in thinking, emotional regulation, or behavior. The pathogenesis of these illnesses is complicated by their obscure nature and lack of biological markers. A genetics-first approach has been proposed to address this complexity. This approach associates clinical phenotypes with disease-susceptible genomic variants, such as copy number variations and single nucleotide variants. These rare variants significantly affect disease development and are thus crucial for assessing the effects of specific variants on disease and in determining the underlying biological mechanisms. In particular, mouse models that reflect these variants are instrumental in defining the causal relationships between genetic variants and disease-relevant phenotypes. Recent studies have highlighted the importance of sensory information processing in humans and mice. Advanced technologies that are valuable in unraveling the neural circuit mechanisms of these phenotypes include optogenetics and in vivo 2-photon imaging. Furthermore, mouse models can guide the integration of findings from patients and induced pluripotent stem cells, supporting a multidimensional approach to understanding the pathophysiology of mental disorders. In this review, we briefly discuss the utility of mouse models in a genetics-first approach to elucidate the pathophysiology of mental disorders. We also present examples of our mouse models based on rare disease-susceptible variants. |
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言語 |
en |
| 出版者 |
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出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプresource |
http://purl.org/coar/resource_type/c_6501 |
|
タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| ID登録 |
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|
ID登録 |
10.18999/nagjms.87.2.196 |
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ID登録タイプ |
JaLC |
| 関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
URI |
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関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/872.html |
| 助成情報 |
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|
識別子タイプ |
Crossref Funder |
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助成機関識別子 |
https://doi.org/10.13039/501100001691 |
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助成機関名 |
日本学術振興会 |
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言語 |
ja |
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助成機関名 |
Japan Society for the Promotion of Science |
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言語 |
en |
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研究課題番号 |
24KJ1262 |
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研究課題番号URI |
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24KJ1262/ |
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研究課題名 |
精神疾患における視聴覚統合様式のメカニズムの探索 |
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言語 |
ja |
| 収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0027-7622 |
| 収録物識別子 |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
2186-3326 |
| 書誌情報 |
en : Nagoya Journal of Medical Science
巻 87,
号 2,
p. 196-210,
発行日 2025-05
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02_Kondo.pdf (679.6 KB)
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