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Dysregulated histone acetylation causes congenital diseases
https://az.repo.nii.ac.jp/records/2000271
https://az.repo.nii.ac.jp/records/2000271fbd37af4-776f-45b2-a13b-9c172db6161b
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Dysregulated histone acetylation causes congenital diseases.pdf (2.1 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||
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| 公開日 | 2025-01-24 | |||||||
| タイトル | ||||||||
| タイトル | Dysregulated histone acetylation causes congenital diseases | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| 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 | |||||||
| 著者 |
Matsushita, Nobuko
× Matsushita, Nobuko
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| Abstract | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Epigenetic mechanisms are essential for regulating gene expression, altering chromatin structure, and regulating gene transcription without altering the underlying nucleotide sequence. Cell differentiation and development are associated with reversible gene expression. Critical epigenetic mechanisms involve histone-modifying enzymes, such as acetyltransferases, and those involved in DNA methylation. During development, gene expression in individual cells changes in response to their programs and signals from surrounding cells, ultimately determining cell fate. In this review, I discuss developmental syndromes, such as neuronal disorders and congenital abnormalities, caused by mutations in genes that control epigenetic information. Mutations in these genes often occur de novo, with some symptoms evident only in homozygotes and others manifesting in heterozygotes. In many cases, symptoms are observed only in specific tissues despite the presence of widespread gene mutations. | |||||||
| 言語 | en | |||||||
| 書誌情報 |
Gene Reports 巻 31, p. 101778-101778, 発行日 2023-06 |
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| 出版者 | ||||||||
| 出版者 | Elsevier BV | |||||||
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| 収録物識別子タイプ | ISSN | |||||||
| 収録物識別子 | 2452-0144 | |||||||
| DOI | ||||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | 10.1016/j.genrep.2023.101778 | |||||||
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| 出版タイプ | VoR | |||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||
| 査読 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | 査読あり | |||||||
