| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2023-02-25 |
| タイトル |
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|
タイトル |
Clonal hematopoiesis in adult pure red cell aplasia |
|
言語 |
en |
| 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 |
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資源タイプ |
journal article |
| 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 |
| 作成者 |
Fujishima, Naohito
Kohmaru, Junki
Koyota, Souichi
Kuba, Keiji
Saga, Tomoo
Omokawa, Ayumi
Moritoki, Yuki
Ueki, Shigeharu
Ishida, Fumihiro
Nakao, Shinji
Matsuda, Akira
Ohta, Akiko
Tohyama, Kaoru
Yamasaki, Hiroshi
Usuki, Kensuke
Nakashima, Yasuhiro
Sato, Shinya
Miyazaki, Yasushi
Nannya, Yasuhito
Ogawa, Seishi
Sawada, Kenichi
Mitani, Kinuko
Hirokawa, Makoto
|
| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Idiopathic pure red cell aplasia (PRCA) and secondary PRCA associated with thymoma and large granular lymphocyte leukemia are generally considered to be immune-mediated. The PRCA2004/2006 study showed that poor responses to immunosuppression and anemia relapse were associated with death. PRCA may represent the prodrome to MDS. Thus, clonal hematopoiesis may be responsible for treatment failure. We investigated gene mutations in myeloid neoplasm-associated genes in acquired PRCA. We identified 21 mutations affecting amino acid sequences in 11 of the 38 adult PRCA patients (28.9%) using stringent filtering of the error-prone sequences and SNPs. Four PRCA patients showed 7 driver mutations in TET2, DNMT3A and KDM6A, and 2 PRCA patients carried multiple mutations in TET2. Five PRCA patients had mutations with high VAFs exceeding 0.3. These results suggest that clonal hematopoiesis by stem/progenitor cells might be related to the pathophysiology of chronic PRCA in certain adult patients. |
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言語 |
en |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 書誌情報 |
en : SCIENTIFIC REPORTS
巻 11,
発行日 2021
|
| 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 |
2045-2322 |
| 出版者 |
|
|
出版者 |
Nature Research |
|
言語 |
en |
| 関連情報 |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1038/s41598-021-81890-5 |
| 権利情報 |
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|
権利情報 |
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2021 |
iA_2022_113.pdf (837.6 kB)
