• 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

Genetic characterization of acquired aplastic anemia by targeted sequencing.

作者信息

Heuser Michael, Schlarmann Carola, Dobbernack Vera, Panagiota Victoria, Wiehlmann Lutz, Walter Carolin, Beier Fabian, Ziegler Patrick, Yun Haiyang, Kade Sofia, Kirchner Aylin, Huang Liu, Koenecke Christian, Eder Matthias, Brümmendorf Tim H, Dugas Martin, Ganser Arnold, Thol Felicitas

机构信息

Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Germany

Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Germany.

出版信息

Haematologica. 2014 Sep;99(9):e165-7. doi: 10.3324/haematol.2013.101642. Epub 2014 Jun 6.

DOI:10.3324/haematol.2013.101642
PMID:24907358
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4562551/
Abstract
摘要

相似文献

1
Genetic characterization of acquired aplastic anemia by targeted sequencing.通过靶向测序对获得性再生障碍性贫血进行基因特征分析。
Haematologica. 2014 Sep;99(9):e165-7. doi: 10.3324/haematol.2013.101642. Epub 2014 Jun 6.
2
Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome.体细胞突变可识别出进展为骨髓增生异常综合征的再生障碍性贫血患者亚组。
Blood. 2014 Oct 23;124(17):2698-704. doi: 10.1182/blood-2014-05-574889. Epub 2014 Aug 18.
3
Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia.端粒磨损和候选基因突变导致再生障碍性贫血单体 7。
Blood. 2015 Jan 22;125(4):706-9. doi: 10.1182/blood-2014-10-607572. Epub 2014 Nov 18.
4
Mutations of ASXL1 and TET2 in aplastic anemia.再生障碍性贫血中ASXL1和TET2的突变
Haematologica. 2015 May;100(5):e172-5. doi: 10.3324/haematol.2014.120931. Epub 2015 Jan 16.
5
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.儿童及青年患者骨髓增生异常综合征和再生障碍性贫血的遗传特征。
Haematologica. 2016 Nov;101(11):1343-1350. doi: 10.3324/haematol.2016.149476. Epub 2016 Jul 14.
6
Myelodysplastic syndromes: lost between two states?骨髓增生异常综合征：迷失于两种状态之间？
Leukemia. 2010 Jan;24(1):1-5. doi: 10.1038/leu.2009.157.
7
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia].骨髓增生异常综合征和再生障碍性贫血患者HFE基因突变的研究
Zhonghua Xue Ye Xue Za Zhi. 2009 Apr;30(4):223-8.
8
Origins of myelodysplastic syndromes after aplastic anemia.再生障碍性贫血后骨髓增生异常综合征的起源
Blood. 2017 Oct 26;130(17):1953-1957. doi: 10.1182/blood-2017-02-767731. Epub 2017 Sep 11.
9
Evolution of clonal dynamics and differential response to targeted therapy in a case of systemic mastocytosis with associated myelodysplastic syndrome.伴有骨髓增生异常综合征的系统性肥大细胞增多症病例中克隆动力学的演变及对靶向治疗的差异反应
Leuk Res. 2020 Aug;95:106404. doi: 10.1016/j.leukres.2020.106404. Epub 2020 Jun 11.
10
Two cases showing clonal progression with full evolution from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome to myelodysplastic syndromes and leukemia.两例显示克隆性进展，从再生障碍性贫血-阵发性睡眠性血红蛋白尿综合征完全演变为骨髓增生异常综合征和白血病。
Int J Hematol. 2000 Aug;72(2):206-9.

引用本文的文献

1
Somatic mutations and the efficacy of immunosuppressive therapy in severe/very severe aplastic anemia and transfusion-dependent nonsevere aplastic anemia.体细胞突变与免疫抑制疗法在重型/极重型再生障碍性贫血及输血依赖型非重型再生障碍性贫血中的疗效
Ann Hematol. 2025 Aug 7. doi: 10.1007/s00277-025-06393-z.
2
Interferon-γ-mediated selective inhibition of hematopoiesis and the clonal advantage of HLA-lacking hematopoietic stem progenitor cells in aplastic anemia.干扰素-γ介导的再生障碍性贫血中造血的选择性抑制及缺乏人类白细胞抗原的造血干祖细胞的克隆优势
Leukemia. 2025 Apr 11. doi: 10.1038/s41375-025-02595-6.
3
Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.成年印度人明显获得性再生障碍性贫血的全外显子组测序：三级护理医院的初步经验。
Diseases. 2024 Sep 23;12(9):225. doi: 10.3390/diseases12090225.
4
Recent Advances towards the Understanding of Secondary Acute Myeloid Leukemia Progression.对继发性急性髓系白血病进展认识的最新进展
Life (Basel). 2024 Feb 27;14(3):309. doi: 10.3390/life14030309.
5
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.研究在埃及再生障碍性贫血患者的首次分子分析中鉴定出的26种变异的致病性。
J Genet Eng Biotechnol. 2023 Nov 29;21(1):149. doi: 10.1186/s43141-023-00585-8.
6
Clonal evolution in aplastic anemia: failed tumor surveillance or maladaptive recovery?再生障碍性贫血中的克隆进化：肿瘤监测失败还是适应性恢复不良？
Leuk Lymphoma. 2023 Jul-Aug;64(8):1389-1399. doi: 10.1080/10428194.2023.2215614. Epub 2023 Jun 25.
7
Clinical implications of myeloid malignancy‑related somatic mutations in aplastic anemia.骨髓增生异常相关体细胞突变在再生障碍性贫血中的临床意义。
Clin Exp Med. 2023 Dec;23(8):4473-4482. doi: 10.1007/s10238-023-01067-4. Epub 2023 Apr 22.
8
Always stressed but never exhausted: how stem cells in myeloid neoplasms avoid extinction in inflammatory conditions.始终处于压力之下但从不疲惫：髓系肿瘤中的干细胞如何在炎症条件下避免灭绝。
Blood. 2023 Jun 8;141(23):2797-2812. doi: 10.1182/blood.2022017152.
9
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.再生障碍性贫血和阵发性睡眠性血红蛋白尿症中克隆进化的临床和分子决定因素。
J Clin Oncol. 2023 Jan 1;41(1):132-142. doi: 10.1200/JCO.22.00710. Epub 2022 Sep 2.
10
The longitudinal dynamics and natural history of clonal haematopoiesis.克隆性造血的纵向动力学和自然史。
Nature. 2022 Jun;606(7913):335-342. doi: 10.1038/s41586-022-04785-z. Epub 2022 Jun 1.

本文引用的文献

1
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.外显子组测序揭示了一个美属密克罗尼西亚家族常染色体隐性再生障碍性贫血中的血小板生成素配体突变。
Blood. 2013 Nov 14;122(20):3440-9. doi: 10.1182/blood-2012-12-473538. Epub 2013 Oct 1.
2
MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy.MYBL2是髓系恶性肿瘤中的一个亚单倍体不足的肿瘤抑制基因。
Elife. 2013 Jul 16;2:e00825. doi: 10.7554/eLife.00825.
3
SETBP1 mutation analysis in 944 patients with MDS and AML.944例骨髓增生异常综合征和急性髓系白血病患者的SETBP1突变分析
Leukemia. 2013 Oct;27(10):2072-5. doi: 10.1038/leu.2013.145. Epub 2013 May 7.
4
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.SETBP1 突变发生在 9%的 MDS/MPN 和 4%的 MPN 病例中，与非典型 CML、单体 7、i(17)(q10) 等臂染色体、ASXL1 和 CBL 突变密切相关。
Leukemia. 2013 Sep;27(9):1852-60. doi: 10.1038/leu.2013.133. Epub 2013 Apr 30.
5
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes.骨髓增生异常综合征中反复突变基因的克隆多样性。
Leukemia. 2013 Jun;27(6):1275-82. doi: 10.1038/leu.2013.58. Epub 2013 Feb 27.
6
Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia.再生障碍性贫血患者中可通过深度测序检测到的低频克隆性突变。
Leukemia. 2013 Apr;27(4):968-71. doi: 10.1038/leu.2013.30. Epub 2013 Feb 1.
7
MYBL2 haploinsufficiency increases susceptibility to age-related haematopoietic neoplasia.MYBL2 杂合性缺失增加与年龄相关的造血肿瘤易感性。
Leukemia. 2013 Mar;27(3):661-70. doi: 10.1038/leu.2012.241. Epub 2012 Aug 22.
8
How I treat acquired aplastic anemia.我如何治疗获得性再生障碍性贫血。
Blood. 2012 Aug 9;120(6):1185-96. doi: 10.1182/blood-2011-12-274019. Epub 2012 Apr 19.
9
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.外显子组测序鉴定 MPL 为家族性再生障碍性贫血的致病基因。
Haematologica. 2012 Apr;97(4):524-8. doi: 10.3324/haematol.2011.052787. Epub 2011 Dec 16.
10
Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes.ASXL1 基因突变对骨髓增生异常综合征患者的预后意义。
J Clin Oncol. 2011 Jun 20;29(18):2499-506. doi: 10.1200/JCO.2010.33.4938. Epub 2011 May 16.