• 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

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

作者信息

van Oorschot Rinske, Marneth Anna E, Bergevoet Saskia M, van Bergen Maaike G J M, Peerlinck Kathelijne, Lentaigne Claire E, Millar Carolyn M, Westbury Sarah K, Favier Remi, Erber Wendy N, Turro Ernest, Jansen Joop H, Ouwehand Willem H, McKinney Harriet L, Downes Kate, Freson Kathleen, van der Reijden Bert A

机构信息

Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc, Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, the Netherlands.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.

出版信息

Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20.

DOI:10.3324/haematol.2018.207712
PMID:30573501
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6545829/
Abstract
摘要

相似文献

1
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.影响GFI1B功能的遗传性错义变异不一定会导致出血性素质。
Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20.
2
Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.与罕见的 GFI1B 错义变异相关的巨血小板减少症，使免疫性血小板减少症的表现复杂化。
Pediatr Blood Cancer. 2019 Sep;66(9):e27874. doi: 10.1002/pbc.27874. Epub 2019 Jun 17.
3
Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.血小板减少症和 CD34 表达与 α-颗粒缺乏脱耦联，与第一个生长因子独立 1B 锌指突变有关。
J Thromb Haemost. 2017 Nov;15(11):2245-2258. doi: 10.1111/jth.13843. Epub 2017 Oct 13.
4
controls integrin signaling-dependent cytoskeleton dynamics and organization in megakaryocytes.控制巨核细胞中整合素信号依赖的细胞骨架动力学和组织。
Haematologica. 2017 Mar;102(3):484-497. doi: 10.3324/haematol.2016.150375. Epub 2017 Jan 12.
5
Platelet CD34 expression and α/δ-granule abnormalities in - and -related familial bleeding disorders.血小板CD34表达及α/δ-颗粒异常与遗传性出血性疾病的关系
Blood. 2017 Mar 23;129(12):1733-1736. doi: 10.1182/blood-2016-11-749366. Epub 2017 Jan 17.
6
Molecular mechanisms of bleeding disorderassociated GFI1B mutation and its affected pathways in megakaryocytes and platelets.与出血性疾病相关的 GFI1B 突变及其在巨核细胞和血小板中的作用途径的分子机制。
Haematologica. 2019 Jul;104(7):1460-1472. doi: 10.3324/haematol.2018.194555. Epub 2019 Jan 17.
7
Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.鉴定导致先天性巨血小板减少症的新型 GFI1B 突变的功能。
J Thromb Haemost. 2016 Jul;14(7):1462-9. doi: 10.1111/jth.13350. Epub 2016 Jun 13.
8
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.联合α-δ血小板储存池缺陷与GFI1B基因突变有关。
Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.
9
A dominant-negative GFI1B mutation in the gray platelet syndrome.伴巨大血小板的灰色血小板综合征中的一个显性负性 GFI1B 突变。
N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10.
10
A novel homozygous variant in 2 sisters with thrombocytopenia and severe bleeding tendency.两名血小板减少伴严重出血倾向姐妹的新型纯合变异。
Platelets. 2021 Jul 4;32(5):701-704. doi: 10.1080/09537104.2020.1786041. Epub 2020 Jul 7.

引用本文的文献

1
GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.GFI1B 和 LSD1 在巨核细胞分化过程中抑制髓样特征。
Commun Biol. 2024 Mar 28;7(1):374. doi: 10.1038/s42003-024-06090-z.
2
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel germline mutation.GFI1B p32 对致癌因子的失调调控：一种新型胚系突变的研究。
Haematologica. 2022 Jan 1;107(1):260-267. doi: 10.3324/haematol.2020.267328.
3
Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.显性负性 Gfi1b 突变导致小鼠中度血小板减少症和应激性血小板生成受损，伴有轻度红细胞生成异常。
Haematologica. 2020 Oct 1;105(10):2457-2470. doi: 10.3324/haematol.2019.222596.
4
Inherited thrombocytopenias: history, advances and perspectives.遗传性血小板减少症：历史、进展与展望。
Haematologica. 2020 Aug;105(8):2004-2019. doi: 10.3324/haematol.2019.233197. Epub 2020 Jun 11.
5
Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.一名转录因子亚基CBFB部分缺失患者的血小板CD34表达
Am J Hematol. 2020 Jun;95(6):E136-E139. doi: 10.1002/ajh.25770. Epub 2020 Apr 8.
6
Targeting the GFI1/1B-CoREST Complex in Acute Myeloid Leukemia.靶向急性髓系白血病中的GFI1/1B-CoREST复合物
Front Oncol. 2019 Oct 9;9:1027. doi: 10.3389/fonc.2019.01027. eCollection 2019.
7
Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.与罕见的 GFI1B 错义变异相关的巨血小板减少症，使免疫性血小板减少症的表现复杂化。
Pediatr Blood Cancer. 2019 Sep;66(9):e27874. doi: 10.1002/pbc.27874. Epub 2019 Jun 17.

本文引用的文献

1
Molecular mechanisms of bleeding disorderassociated GFI1B mutation and its affected pathways in megakaryocytes and platelets.与出血性疾病相关的 GFI1B 突变及其在巨核细胞和血小板中的作用途径的分子机制。
Haematologica. 2019 Jul;104(7):1460-1472. doi: 10.3324/haematol.2018.194555. Epub 2019 Jan 17.
2
Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.血小板减少症和 CD34 表达与 α-颗粒缺乏脱耦联，与第一个生长因子独立 1B 锌指突变有关。
J Thromb Haemost. 2017 Nov;15(11):2245-2258. doi: 10.1111/jth.13843. Epub 2017 Oct 13.
3
Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.隐性灰色血小板样综合征，在缺乏剪接异构体GFI1B-p37的情况下红细胞生成未受影响。
Haematologica. 2017 Sep;102(9):e375-e378. doi: 10.3324/haematol.2017.167957. Epub 2017 May 26.
4
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.锌指结构域首个区域的一种新型GFI1B突变导致先天性巨血小板减少症。
Br J Haematol. 2018 Jun;181(6):843-847. doi: 10.1111/bjh.14710. Epub 2017 Apr 25.
5
Platelet CD34 expression and α/δ-granule abnormalities in - and -related familial bleeding disorders.血小板CD34表达及α/δ-颗粒异常与遗传性出血性疾病的关系
Blood. 2017 Mar 23;129(12):1733-1736. doi: 10.1182/blood-2016-11-749366. Epub 2017 Jan 17.
6
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.联合α-δ血小板储存池缺陷与GFI1B基因突变有关。
Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.
7
Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.鉴定导致先天性巨血小板减少症的新型 GFI1B 突变的功能。
J Thromb Haemost. 2016 Jul;14(7):1462-9. doi: 10.1111/jth.13350. Epub 2016 Jun 13.
8
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.对 707 例不明原因出血和血小板疾病患者进行人类表型本体论注释和聚类分析，以揭示其遗传缺陷。
Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
Transcriptional diversity during lineage commitment of human blood progenitors.人类血液祖细胞谱系定向分化过程中的转录多样性。
Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033.