| Item type |
デフォルトアイテムタイプ_（フル）(1) |
| 公開日 |
2023-03-18 |
| タイトル |
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|
タイトル |
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism |
|
言語 |
en |
| 作成者 |
Nakatani, Jin
Tamada, Kota
Hatanaka, Fumiyuki
Ise, Satoko
Ohta, Hisashi
Inoue, Kiyoshi
Tomonaga, Shozo
Watanabe, Yasuhito
Chung, Yeun Jun
Banerjee, Ruby
Iwamoto, Kazuya
Kato, Tadafumi
Okazawa, Makoto
Yamauchi, Kenta
Tanda, Koichi
Takao, Keizo
Miyakawa, Tsuyoshi
Bradley, Allan
Takumi, Toru
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
|
|
権利情報 |
Copyright (c) 2009 Elsevier Inc |
| 主題 |
|
|
主題Scheme |
NDC |
|
主題 |
490 |
| 内容記述 |
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|
内容記述 |
Autism is a complex psychiatric illness that has received considerable attention as a developmental brain disorder. Substantial evidence suggests that chromosomal abnormalities contribute to the risk of autism. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We have modeled this genetic change in mice using chromosome engineering to generate a 6.3-Mb duplication of the conserved linkage group on mouse chromosome 7. Mice with a paternal duplication display autistic behavioral features such as poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety. An increased MBII52 snoRNA within the duplicated region, affecting the serotonin 2c receptor (5-HT2cR), correlates with altered intracellular Ca2+ responses elicited by a 5-HT2cR agonist in the neurons in mice with a paternal duplication. This first chromosome-engineered mouse model for autism replicates various aspects of human autistic phenotypes and validates the relevance of the human chromosome abnormality. This model will facilitate forward genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Elsevier Inc. |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
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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 |
| 出版タイプ |
|
|
出版タイプ |
AO |
|
出版タイプResource |
http://purl.org/coar/version/c_b1a7d7d4d402bcce |
| 関連情報 |
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|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1016/j.cell.2009.04.024 |
| 関連情報 |
|
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|
識別子タイプ |
PMID |
|
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関連識別子 |
19563756 |
| 関連情報 |
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|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
|
|
関連識別子 |
http://dx.doi.org/10.1016/j.cell.2009.04.024 |
| 収録物識別子 |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0092-8674 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00600003 |
| 開始ページ |
|
|
開始ページ |
1235 |
| 書誌情報 |
Cell
Cell
巻 137,
号 7,
p. 1235-1246,
発行日 2009-06-26
|
| 旧ID |
26946 |
Cell_137_1235.pdf (7.2 MB)
