WEKO3
アイテム
本態性血小板血症患者における新規ドライバー変異の同定
http://hdl.handle.net/10232/0002000132
http://hdl.handle.net/10232/000200013235034aaf-9128-4f5a-988f-783cb9a04ce0
| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2024-02-08 | |||||
| タイトル | ||||||
| タイトル | Identification of putative non-canonical driver mutations in patients with essential thrombocythemia | |||||
| タイトル言語 | en | |||||
| タイトル | ||||||
| タイトル | 本態性血小板血症患者における新規ドライバー変異の同定 | |||||
| タイトル言語 | ja | |||||
| 著者 |
新居, 亮彦
× 新居, 亮彦 |
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| 言語 | ||||||
| 言語 | eng | |||||
| 言語 | ||||||
| 言語 | jpn | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | essential thrombocythemia | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | germline mutation | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | noncanonical driver mutation | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | triple-negative ET | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| 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 | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Essential thrombocythemia (ET) cases without canonical JAK2, CALR, or MPL mutations, that is, triple-negative (TN) ET, have been found in 10%–20% of ET cases. Owing to the limited number of TN ET cases, its clinical significance remains unclear. This study evaluated TN ET's clinical characteristics and identified novel driver mutations. Among 119 patients with ET, 20 (16.8%) had no canonical JAK2/CALR/MPL mutations. Patients with TN ET tended to be younger and had lower white blood cell counts and lactate dehydrogenase values. We identified putative driver mutations in 7 (35%): MPL S204P, MPL L265F, JAK2 R683G, and JAK2 T875N were previously reported as candidate driver mutations in ET. Moreover, we identified a THPO splicing site mutation, MPL*636Wext*12, and MPL E237K. Four of the seven identified driver mutations were germline. Functional studies on MPL*636Wext*12 and MPL E237K revealed that they are gain-of-function mutants that increase MPL signaling and confer thrombopoietin hypersensitivity with very low efficiency. Patients with TN ET tended to be younger, although this was thought to be due to the inclusion of germline mutations, hereditary thrombocytosis. Accumulating the genetic and clinical characteristics of noncanonical mutations may help future clinical interventions in TN ET and hereditary thrombocytosis. | |||||
| 内容記述言語 | en | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Akihiko Arai, Makoto Yoshimitsu, Maki Otsuka, Yoshikiyo Ito, Takayoshi Miyazono, Nobuaki Nakano, Kosuke Obama, Hidetoshi Nakashima, Shuichi Hanada, Satsuki Owatari, Daisuke Nakamura, Masahito Tokunaga, Yuhei Kamada, Atae Utsunomiya, Koichi Haraguchi, Maiko Hayashida, Satoshi Fujino, Jun Odawara, Tomohisa Tabuchi, Shinsuke Suzuki, Heiichiro Hamada, Yoshiko Kawamoto, Yuichiro Uchida, Miho Hachiman, Kenji Ishitsuka Identification of putative noncanonical driver mutations in patients with essential thrombocythemia European Journal of Haematology. 2023;110:639–647. https://doi.org/10.1111/ejh.13945 |
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| 内容記述言語 | en | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | This is the peer reviewed version of the following article: [https://onlinelibrary.wiley.com/doi/10.1111/ejh.13945], which has been published in final form at [https://doi.org/10.1111/ejh.13945]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited. | |||||
| 内容記述言語 | en | |||||
| 作成日 | ||||||
| 日付 | 2024-01-24 | |||||
| 日付タイプ | Collected | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| ファイル（説明） | ||||||
| 内容記述 | 博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨 | |||||
| 公開者・出版者 | ||||||
| 出版者 | 鹿児島大学 | |||||
| 出版者言語 | ja | |||||
| 公開者・出版者 | ||||||
| 出版者 | John Wiley & Sons | |||||
| 出版者言語 | en | |||||
| 備考 | ||||||
| 備考言語 | ja | |||||
| 備考 | 【指導教員:石塚賢治】 | |||||
| date.appl | ||||||
| appl | 【学位申請日】2023-08-02 | |||||
| 学位名 | ||||||
| 学位名の言語 | ja | |||||
| 学位名 | 博士(医学) | |||||
| 学位名 | ||||||
| 学位名の言語 | en | |||||
| 学位名 | Doctor of Philosophy in Medical Science | |||||
| 学位授与機関名 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 17701 | |||||
| 学位授与機関名の言語 | ja | |||||
| 学位授与機関名 | 鹿児島大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2024-01-31 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲総研第718号 | |||||
