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.
Abstract
摘要
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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
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6
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7
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