Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.
作者信息
Li Ruijuan, Sobreira Nara, Witmer P Dane, Pratz Keith W, Braunstein Evan M
机构信息
Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Hematology/Institute of Molecular Hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, China.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
出版信息
Haematologica. 2016 Jun;101(6):e228-31. doi: 10.3324/haematol.2015.139790. Epub 2016 Mar 4.
Abstract
摘要
相似文献
1
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.一个遗传性骨髓增生异常综合征/急性髓系白血病家族中的两个新的种系DDX41突变。
Haematologica. 2016 Jun;101(6):e228-31. doi: 10.3324/haematol.2015.139790. Epub 2016 Mar 4.
2
Myeloid neoplasms with germline DDX41 mutation.伴有种系DDX41突变的髓系肿瘤
Int J Hematol. 2017 Aug;106(2):163-174. doi: 10.1007/s12185-017-2260-y. Epub 2017 May 25.
3
Inherited DDX41 mutations: 11 genes and counting.遗传性DDX41突变：已发现11个基因，且数量还在增加。
Blood. 2016 Feb 25;127(8):960-1. doi: 10.1182/blood-2016-01-690909.
4
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.胚系 DDX41 突变定义了成年 MDS/AML 患者中的一个重要实体。
Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909.
5
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.新型种系DDX41突变定义了骨髓增生异常综合征/急性髓系白血病发病年龄较低和淋巴系统恶性肿瘤的家系。
Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28.
6
DDX41-related myeloid neoplasia.与DDX41相关的髓系肿瘤
Semin Hematol. 2017 Apr;54(2):94-97. doi: 10.1053/j.seminhematol.2017.04.007. Epub 2017 Apr 21.
7
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.家族性骨髓增生异常综合征和急性髓系白血病亚组中的种系杂合性DDX41变异体
Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2.
8
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.B 细胞淋巴母细胞白血病中新型双等位基因 DDX41 突变：病例报告。
BMC Med Genomics. 2022 Mar 4;15(1):46. doi: 10.1186/s12920-022-01191-2.
9
DDX41: the poster child for familial MDS/AML grows up.DDX41：家族性骨髓增生异常综合征/急性髓系白血病的典型代表逐渐成熟。
Blood. 2023 Feb 2;141(5):447-449. doi: 10.1182/blood.2022018787.
10
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.胚系 DDX41 变异导致髓系肿瘤的遗传特征。
Blood. 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135.
引用本文的文献
1
Multifunctional role of DEAD-box helicase 41 in innate immunity, hematopoiesis and disease.DEAD-box 解旋酶 41 在先天免疫、造血和疾病中的多功能作用。
Front Immunol. 2024 Aug 9;15:1451705. doi: 10.3389/fimmu.2024.1451705. eCollection 2024.
2
Rare exonic variants identified in Bladder Exstrophy Epispadias Complex.在膀胱外翻-尿道上裂复合畸形中鉴定出的罕见外显子变异。
Front Genet. 2024 Jun 5;15:1266210. doi: 10.3389/fgene.2024.1266210. eCollection 2024.
3
DDX41: exploring the roles of a versatile helicase.DDX41：探索多功能解旋酶的作用。
Biochem Soc Trans. 2024 Feb 28;52(1):395-405. doi: 10.1042/BST20230725.
4
Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.DDX41在血液系统恶性肿瘤中作用的临床及机制研究见解
FEBS Lett. 2022 Nov;596(21):2736-2745. doi: 10.1002/1873-3468.14487. Epub 2022 Sep 9.
5
Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.胚系和体细胞 DDX41 缺陷及其对髓系肿瘤的影响。
Curr Hematol Malig Rep. 2022 Oct;17(5):113-120. doi: 10.1007/s11899-022-00667-3. Epub 2022 Jul 4.
6
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.胚系 DDX41 变异导致髓系肿瘤的遗传特征。
Blood. 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135.
7
DDX41 is required for cGAS-STING activation against DNA virus infection.DDX41 对于 cGAS-STING 激活对抗 DNA 病毒感染是必需的。
Cell Rep. 2022 May 24;39(8):110856. doi: 10.1016/j.celrep.2022.110856.
8
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.
9
Clinical features of mutation-related diseases: a systematic review with individual patient data.突变相关疾病的临床特征：一项基于个体患者数据的系统评价
Ther Adv Hematol. 2021 Jul 16;12:20406207211032433. doi: 10.1177/20406207211032433. eCollection 2021.
10
Germline / Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.生殖系/编码变体与骨髓增殖性肿瘤风险增加相关。
Cancers (Basel). 2021 Jun 29;13(13):3246. doi: 10.3390/cancers13133246.
本文引用的文献
1
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
2
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.新型种系DDX41突变定义了骨髓增生异常综合征/急性髓系白血病发病年龄较低和淋巴系统恶性肿瘤的家系。
Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28.
3
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.髓系肿瘤中DDX41的遗传性和体细胞缺陷。
Cancer Cell. 2015 May 11;27(5):658-70. doi: 10.1016/j.ccell.2015.03.017. Epub 2015 Apr 23.
4
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.孟德尔疾病基因识别的新工具：PhenoDB变异分析模块；以及GeneMatcher，一个用于将对同一基因感兴趣的研究人员联系起来的基于网络的工具。
Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769.
5
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.家族性血小板减少症和血液系统恶性肿瘤中的胚系ETV6突变
Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.
6
COSMIC: exploring the world's knowledge of somatic mutations in human cancer.COSMIC：探索全球关于人类癌症体细胞突变的知识。
Nucleic Acids Res. 2015 Jan;43(Database issue):D805-11. doi: 10.1093/nar/gku1075. Epub 2014 Oct 29.
7
Inherited predisposition to acute myeloid leukemia.遗传性急性髓系白血病易感性。
Semin Hematol. 2014 Oct;51(4):306-21. doi: 10.1053/j.seminhematol.2014.08.001. Epub 2014 Aug 12.
8
Predicting functional effect of human missense mutations using PolyPhen-2.使用PolyPhen-2预测人类错义突变的功能效应。
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20. doi: 10.1002/0471142905.hg0720s76.
9
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.遗传性 GATA2 突变与家族性骨髓增生异常综合征和急性髓系白血病相关。
Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.
10
Comparative structural analysis of human DEAD-box RNA helicases.人类 DEAD-box RNA 解旋酶的比较结构分析。
PLoS One. 2010 Sep 30;5(9):e12791. doi: 10.1371/journal.pone.0012791.
Zotero 插件