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Unified gene expression signature of novel NPM1 exon 5 mutations in acute myeloid leukemia.

作者信息

Lisi Véronique, Blanchard Ève, Vladovsky Michael, Audemard Éric, Feghaly Albert, Lemieux Sébastien, Hébert Josée, Sauvageau Guy, Lavallée Vincent-Philippe

机构信息

The Leucegene Project, Université de Montréal, Montréal, QC, Canada.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, QC, Canada.

出版信息

Blood Adv. 2022 Sep 13;6(17):5160-5164. doi: 10.1182/bloodadvances.2022007300.

DOI:10.1182/bloodadvances.2022007300
PMID:35849707
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9631620/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/0d84732aad8c/advancesADV2022007300f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/a08a28f46320/advancesADV2022007300absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/bd78e7a2d157/advancesADV2022007300f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/0d84732aad8c/advancesADV2022007300f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/a08a28f46320/advancesADV2022007300absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/bd78e7a2d157/advancesADV2022007300f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c935/9631620/0d84732aad8c/advancesADV2022007300f2.jpg

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本文引用的文献

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Novel NPM1 exon 5 mutations and gene fusions leading to aberrant cytoplasmic nucleophosmin in AML.AML 中导致异常细胞质核仁磷酸蛋白的新型 NPM1 外显子 5 突变和基因融合。
Blood. 2021 Dec 23;138(25):2696-2701. doi: 10.1182/blood.2021012732.
2
NPM1-mutated acute myeloid leukemia: from bench to bedside.NPM1 突变型急性髓系白血病:从基础到临床。
Blood. 2020 Oct 8;136(15):1707-1721. doi: 10.1182/blood.2019004226.
3
Targeted variant detection using unaligned RNA-Seq reads.基于未比对 RNA-Seq reads 的靶向变异检测。
Life Sci Alliance. 2019 Aug 19;2(4). doi: 10.26508/lsa.201900336. Print 2019 Aug.
4
A novel type of mutation characterized by multiple internal tandem repeats in a case of cytogenetically normal acute myeloid leukemia.在一例细胞遗传学正常的急性髓系白血病中,一种以多个内部串联重复为特征的新型突变。
Haematologica. 2018 Dec;103(12):e575-e577. doi: 10.3324/haematol.2018.190959. Epub 2018 Jun 14.
5
Transcriptomic landscape of acute promyelocytic leukemia reveals aberrant surface expression of the platelet aggregation agonist Podoplanin.急性早幼粒细胞白血病的转录组图谱揭示了血小板聚集激动剂 Podoplanin 的异常表面表达。
Leukemia. 2018 Jun;32(6):1349-1357. doi: 10.1038/s41375-018-0069-1. Epub 2018 Feb 23.
6
Molecular synergy underlies the co-occurrence patterns and phenotype of -mutant acute myeloid leukemia.分子协同作用是 - 突变型急性髓系白血病共现模式和表型的基础。
Blood. 2017 Oct 26;130(17):1911-1922. doi: 10.1182/blood-2017-01-760595. Epub 2017 Aug 23.
7
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.成人急性髓系白血病的诊断与管理:2017年国际专家小组的欧洲白血病网络(ELN)建议
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Indel detection from RNA-seq data: tool evaluation and strategies for accurate detection of actionable mutations.从 RNA-seq 数据中检测插入缺失:工具评估和准确检测可操作突变的策略。
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