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Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.

作者信息

Olkinuora Alisa, Nieminen Taina T, Douglas Suvi, Kauppinen Anni, Kontro Mika, Väänänen Juho, Kankainen Matti, Ristimäki Ari, Mäkinen Markus, Lahermo Päivi, Heckman Caroline, Saarela Janna, Salonen Milla, Lepistö Anna, Järvinen Heikki, Mecklin Jukka-Pekka, Kilpivaara Outi, Wartiovaara-Kautto Ulla, Porkka Kimmo, Peltomäki Päivi

机构信息

Department of Medical and Clinical Genetics, University of Helsinki, 00014, Helsinki, Finland.

Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, 00014, Helsinki, Finland.

出版信息

Leukemia. 2023 Nov;37(11):2301-2305. doi: 10.1038/s41375-023-02021-9. Epub 2023 Sep 11.

DOI:10.1038/s41375-023-02021-9
PMID:37696923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10624609/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a34/10624609/875eb12447fe/41375_2023_2021_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a34/10624609/b791e730bdf8/41375_2023_2021_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a34/10624609/875eb12447fe/41375_2023_2021_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a34/10624609/b791e730bdf8/41375_2023_2021_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a34/10624609/875eb12447fe/41375_2023_2021_Fig2_HTML.jpg

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本文引用的文献

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Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.胚系 DDX41 突变定义了一种独特的髓系肿瘤亚型。
Blood. 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221.
2
Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia.胚系 DDX41 突变导致无效造血和骨髓增生异常。
Cell Stem Cell. 2021 Nov 4;28(11):1966-1981.e6. doi: 10.1016/j.stem.2021.08.004. Epub 2021 Sep 1.
3
Transcription, translation, and DNA repair: new insights from emerging noncanonical substrates of RNA helicases.转录、翻译与DNA修复：RNA解旋酶新的非经典底物带来的新见解
Biol Chem. 2020 Dec 14;402(5):637-644. doi: 10.1515/hsz-2020-0333. Print 2021 Apr 27.
4
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.胚系 RPS20 突变表型扩展至包括 Diamond-Blackfan 贫血。
Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30.
5
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.髓系肿瘤中的 DDX41 突变与男性性别、TP53 突变和高危疾病相关。
Am J Hematol. 2019 Jul;94(7):757-766. doi: 10.1002/ajh.25486. Epub 2019 May 7.
6
Pathogenic Germline Variants in 10,389 Adult Cancers.10389 例成年癌症中的致病变异体种系变异。
Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
7
The 2016 Revision to the World Health Organization Classification of Myelodysplastic Syndromes.世界卫生组织骨髓增生异常综合征分类的2016年修订版。
J Transl Int Med. 2017 Sep 30;5(3):139-143. doi: 10.1515/jtim-2017-0002. eCollection 2017 Sep.
8
Targeting RNA helicases in cancer: The translation trap.靶向癌症中的 RNA 解旋酶：翻译陷阱。
Biochim Biophys Acta Rev Cancer. 2017 Dec;1868(2):510-520. doi: 10.1016/j.bbcan.2017.09.006. Epub 2017 Sep 28.
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Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12.
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