WEKO3
アイテム
Dysfunctional immunoproteasomes in autoinflammatory diseases
https://tokushima-u.repo.nii.ac.jp/records/2006971
https://tokushima-u.repo.nii.ac.jp/records/2006971fcb582e9-89ad-49d8-8e26-33e6e36391e0
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ir_36_13.pdf (513 KB)
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| Item type | 文献 / Documents(1) | |||||||||||||||||
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| 公開日 | 2019-11-15 | |||||||||||||||||
| アクセス権 | ||||||||||||||||||
| アクセス権 | open access | |||||||||||||||||
| 資源タイプ | ||||||||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||
| 資源タイプ | journal article | |||||||||||||||||
| 出版社版DOI | ||||||||||||||||||
| 識別子タイプ | DOI | |||||||||||||||||
| 関連識別子 | https://doi.org/10.1186/s41232-016-0011-8 | |||||||||||||||||
| 言語 | ja | |||||||||||||||||
| 関連名称 | 10.1186/s41232-016-0011-8 | |||||||||||||||||
| 出版タイプ | ||||||||||||||||||
| 出版タイプ | VoR | |||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||||||||
| タイトル | ||||||||||||||||||
| タイトル | Dysfunctional immunoproteasomes in autoinflammatory diseases | |||||||||||||||||
| 言語 | en | |||||||||||||||||
| 著者 |
有持, 秀喜
× 有持, 秀喜
WEKO
1616
× 佐々木, 由紀× 北村, 明子× 安友, 康二
WEKO
1521
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| 抄録 | ||||||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||||||
| 内容記述 | Recent progress in DNA sequencing technology has made it possible to identify specific genetic mutations in familial disorders. For example, autoinflammatory syndromes are caused by mutations in gene coding for immunoproteasomes. These diseases include Japanese autoinflammatory syndrome with lipodystrophy, Nakajo-Nishimura syndrome, joint contractures, muscular atrophy, microcytic anemia, panniculitis-associated lipodystrophy syndrome, and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. Causal mutations of these syndromes are present in gene coding for subunits of the immunoproteasome. Importantly, a genetically modified mouse that lacks the catalytic subunit of immunoproteasomes does not always develop an autoinflammatory syndrome. Analysis of causal gene mutations, assessment of patients’ phenotypic changes, and appropriate animal models will be indispensable for clarifying the underlying mechanisms responsible for the development of autoinflammatory syndromes and establishing curative approaches. | |||||||||||||||||
| 言語 | en | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 言語 | en | |||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||
| 主題 | Autoinflammation | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 言語 | en | |||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||
| 主題 | Genetics | |||||||||||||||||
| キーワード | ||||||||||||||||||
| 言語 | en | |||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||
| 主題 | Immunoproteasomes | |||||||||||||||||
| 書誌情報 |
en : Inflammation and Regeneration 巻 36, p. 13, 発行日 2016-05-28 |
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| 収録物ID | ||||||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||||||
| 収録物識別子 | 18808190 | |||||||||||||||||
| 出版者 | ||||||||||||||||||
| 出版者 | BioMed Central | |||||||||||||||||
| 言語 | en | |||||||||||||||||
| 出版者 | ||||||||||||||||||
| 出版者 | Springer Nature | |||||||||||||||||
| 言語 | en | |||||||||||||||||
| 権利情報 | ||||||||||||||||||
| 言語 | en | |||||||||||||||||
| 権利情報 | © 2016 Arimochi et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. | |||||||||||||||||
| EID | ||||||||||||||||||
| 識別子 | 320617 | |||||||||||||||||
| 識別子タイプ | URI | |||||||||||||||||
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| 言語 | eng | |||||||||||||||||
