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The impact of spliceosome mutations in MDS.

作者信息

Boultwood Jacqueline, Pellagatti Andrea

机构信息

Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.

出版信息

Hemasphere. 2019 Jun 30;3(Suppl). doi: 10.1097/HS9.0000000000000218. eCollection 2019 Jun.

DOI:10.1097/HS9.0000000000000218
PMID:35309818
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8925658/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67fb/8925658/4909016ade53/hs9-3-0132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67fb/8925658/4909016ade53/hs9-3-0132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67fb/8925658/4909016ade53/hs9-3-0132-g001.jpg

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本文引用的文献

1
U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies.U2AF1 突变诱导致癌性 IRAK4 异构体并激活髓系恶性肿瘤中的固有免疫途径。
Nat Cell Biol. 2019 May;21(5):640-650. doi: 10.1038/s41556-019-0314-5. Epub 2019 Apr 22.
2
Impaired hematopoiesis and leukemia development in mice with a conditional knock-in allele of a mutant splicing factor gene .条件性敲入突变剪接因子基因小鼠造血功能受损和白血病的发生。
Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):E10437-E10446. doi: 10.1073/pnas.1812669115. Epub 2018 Oct 15.
3
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia.
体细胞剪接体突变在骨髓增生异常综合征中诱导的剪接异常和信使 RNA 产生缺陷。
Nat Commun. 2018 Sep 7;9(1):3649. doi: 10.1038/s41467-018-06063-x.
4
Synthetic Lethal and Convergent Biological Effects of Cancer-Associated Spliceosomal Gene Mutations.癌症相关剪接体基因突变的合成致死和趋同生物学效应。
Cancer Cell. 2018 Aug 13;34(2):225-241.e8. doi: 10.1016/j.ccell.2018.07.003.
5
Spliceosome Mutations Induce R Loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndromes.剪接体突变导致骨髓增生异常综合征对 ATR 抑制的 R 环相关敏感性。
Cancer Res. 2018 Sep 15;78(18):5363-5374. doi: 10.1158/0008-5472.CAN-17-3970. Epub 2018 Jul 27.
6
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.剪接体突变对骨髓增生异常综合征中 RNA 剪接的影响:失调的基因/通路和临床关联。
Blood. 2018 Sep 20;132(12):1225-1240. doi: 10.1182/blood-2018-04-843771. Epub 2018 Jun 21.
7
H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers.H3B-8800,一种口服小分子剪接调节剂,可诱导剪接体突变型癌症致死。
Nat Med. 2018 May;24(4):497-504. doi: 10.1038/nm.4493. Epub 2018 Feb 19.
8
The Augmented R-Loop Is a Unifying Mechanism for Myelodysplastic Syndromes Induced by High-Risk Splicing Factor Mutations.高风险剪接因子突变诱导骨髓增生异常综合征的增强 R 环是一种统一机制。
Mol Cell. 2018 Feb 1;69(3):412-425.e6. doi: 10.1016/j.molcel.2017.12.029. Epub 2018 Jan 27.
9
Physiological P95H expression causes impaired hematopoietic stem cell functions and aberrant RNA splicing in mice.生理 P95H 表达导致小鼠造血干细胞功能受损和 RNA 剪接异常。
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Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches.骨髓增生异常综合征中的剪接因子突变:靶基因与治疗方法
Adv Biol Regul. 2018 Jan;67:13-29. doi: 10.1016/j.jbior.2017.09.008. Epub 2017 Sep 22.