• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.

作者信息

Churpek Jane E, Garcia Jacqueline S, Madzo Jozef, Jackson Sarah A, Onel Kenan, Godley Lucy A

出版信息

Leuk Lymphoma. 2010 Oct;51(10):1931-5. doi: 10.3109/10428194.2010.503821.

DOI:10.3109/10428194.2010.503821
PMID:20846103
Abstract
摘要

相似文献

1
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.一个患有家族性血小板疾病的家族中RUNX1基因新的3′突变的鉴定与分子特征分析
Leuk Lymphoma. 2010 Oct;51(10):1931-5. doi: 10.3109/10428194.2010.503821.
2
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.家族性血小板疾病中一种新的RUNX1突变,易发展为髓系恶性肿瘤。
Haematologica. 2008 Jan;93(1):155-6. doi: 10.3324/haematol.12050.
3
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.五个携带RUNX1基因突变的新谱系,这些突变导致家族性血小板疾病并易患髓系恶性肿瘤。
Blood. 2008 Dec 1;112(12):4639-45. doi: 10.1182/blood-2008-05-156745. Epub 2008 Aug 21.
4
C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.伴有髓系恶性肿瘤倾向的家族性血小板疾病中的RUNX1基因C末端突变
Int J Hematol. 2018 Dec;108(6):652-657. doi: 10.1007/s12185-018-2514-3. Epub 2018 Aug 6.
5
Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.家族性血小板疾病伴向髓性恶性肿瘤倾向和种系 RUNX1 突变的骨髓病理异常。
Haematologica. 2017 Oct;102(10):1661-1670. doi: 10.3324/haematol.2017.167726. Epub 2017 Jun 28.
6
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.一种在家族性血小板疾病中发现的新型CBFA2单核苷酸突变,该疾病易发展为髓系恶性肿瘤。
Blood. 2001 Nov 1;98(9):2856-8. doi: 10.1182/blood.v98.9.2856.
7
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.家族性血小板疾病伴急性髓系白血病风险增加中的新型RUNX1突变:改善FPD/AML综合征识别的线索
Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15.
8
Myeloid neoplasms with germ line RUNX1 mutation.伴有胚系RUNX1突变的髓系肿瘤
Int J Hematol. 2017 Aug;106(2):183-188. doi: 10.1007/s12185-017-2258-5. Epub 2017 May 22.
9
Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia.伴有急性髓系白血病易感性的家族性血小板疾病中毛细胞白血病的发生
Platelets. 2014;25(4):300-2. doi: 10.3109/09537104.2013.818636. Epub 2013 Aug 23.
10
Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele.伴有RUNX1等位基因单倍剂量不足的家族性血小板疾病/急性髓系白血病患者髓系转化的遗传基础。
Blood Cancer J. 2016 Feb 5;6(2):e392. doi: 10.1038/bcj.2015.81.

引用本文的文献

1
Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.从拉丁美洲视角看骨髓增生异常综合征的遗传学进展
Genes (Basel). 2025 Jun 2;16(6):687. doi: 10.3390/genes16060687.
2
Pathogenic Mechanisms in Acute Myeloid Leukemia.急性髓系白血病的发病机制。
Curr Treat Options Oncol. 2022 Nov;23(11):1522-1534. doi: 10.1007/s11864-022-01021-8. Epub 2022 Oct 3.
3
Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.儿童骨髓增生异常综合征的经验教训:遗传性易患血液系统恶性肿瘤的研究方法
Front Oncol. 2022 Mar 9;12:813149. doi: 10.3389/fonc.2022.813149. eCollection 2022.
4
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.杂合子种系CSF3R变异作为血液系统恶性肿瘤发生的风险等位基因。
Blood Adv. 2020 Oct 27;4(20):5269-5284. doi: 10.1182/bloodadvances.2020002013.
5
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.RUNX1 突变家族表现出表型异质性以及一种种系易感性急性髓系白血病特有的体细胞突变谱。
Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901.
6
Novel DDX41 variants in Thai patients with myeloid neoplasms.泰国髓系肿瘤患者新型 DDX41 变异体。
Int J Hematol. 2020 Feb;111(2):241-246. doi: 10.1007/s12185-019-02770-3. Epub 2019 Nov 11.
7
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.ClinGen 髓系恶性肿瘤变异体校正专家组关于胚系 RUNX1 变异体的建议。
Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644.
8
Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.家族性骨髓增生异常/急性白血病综合征——具有种系易感性的髓系肿瘤
Front Oncol. 2017 Sep 12;7:206. doi: 10.3389/fonc.2017.00206. eCollection 2017.
9
Gene of the issue: RUNX1 mutations and inherited bleeding.问题的基因:RUNX1突变与遗传性出血。
Platelets. 2017 Mar;28(2):208-210. doi: 10.1080/09537104.2017.1280151. Epub 2017 Feb 17.
10
Role of RUNX1 in hematological malignancies.RUNX1在血液系统恶性肿瘤中的作用。
Blood. 2017 Apr 13;129(15):2070-2082. doi: 10.1182/blood-2016-10-687830. Epub 2017 Feb 8.