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1
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.
2
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.
3
GFI1B mutation causes autosomal dominant gray platelet syndrome.GFI1B基因突变导致常染色体显性灰色血小板综合征。
Clin Genet. 2014 Jun;85(6):534-5. doi: 10.1111/cge.12380. Epub 2014 Apr 9.
4
GFI1B mutation causes a bleeding disorder with abnormal platelet function.GFI1B 突变导致伴有血小板功能异常的出血性疾病。
J Thromb Haemost. 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368.
5
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.
6
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in requiring reinterpretation.一例严重新生儿血小板减少症的寡基因病例和一例需要重新解读的据称良性变异。
Platelets. 2023 Dec;34(1):2237592. doi: 10.1080/09537104.2023.2237592.
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
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.
9
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.
10
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.

引用本文的文献

1
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.使用临床基因组资源基因注释框架评估与止血和血栓形成相关基因的临床有效性。
J Thromb Haemost. 2024 Mar;22(3):645-665. doi: 10.1016/j.jtha.2023.11.011. Epub 2023 Nov 26.
2
Genetics of inherited thrombocytopenias.遗传性血小板减少症的遗传学。
Blood. 2022 Jun 2;139(22):3264-3277. doi: 10.1182/blood.2020009300.
3
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.
4
Multifaceted Actions of GFI1 and GFI1B in Hematopoietic Stem Cell Self-Renewal and Lineage Commitment.GFI1和GFI1B在造血干细胞自我更新和谱系定向中的多方面作用
Front Genet. 2020 Oct 26;11:591099. doi: 10.3389/fgene.2020.591099. eCollection 2020.
5
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.
6
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.使用靶向高通量测序对出血素质和疑似血小板疾病患者进行基因分类。
TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct.
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.
8
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.
9
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.
10
Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome.Gfi1b：急性髓系白血病和骨髓增生异常综合征发生和维持的关键因素。
Haematologica. 2018 Apr;103(4):614-625. doi: 10.3324/haematol.2017.167288. Epub 2018 Jan 11.

本文引用的文献

1
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.
2
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.
3
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.
4
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.全外显子组测序鉴定与血细胞性状相关的基因座，并揭示了替代性GFI1B剪接变体在人类造血中的作用。
Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.002.
5
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.
6
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?任何影响血小板 α 颗粒的遗传缺陷是否应归类为灰色血小板综合征？
Am J Hematol. 2016 Jul;91(7):714-8. doi: 10.1002/ajh.24359. Epub 2016 Apr 26.
7
From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.从血细胞减少到白血病：Gfi1和Gfi1b在血液生成中的作用。
Blood. 2015 Dec 10;126(24):2561-9. doi: 10.1182/blood-2015-06-655043. Epub 2015 Oct 7.
8
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.
9
Growth factor independence 1b (gfi1b) is important for the maturation of erythroid cells and the regulation of embryonic globin expression.生长因子独立性1b（gfi1b）对红系细胞的成熟和胚胎珠蛋白表达的调控很重要。
PLoS One. 2014 May 6;9(5):e96636. doi: 10.1371/journal.pone.0096636. eCollection 2014.
10
Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation.Gfi-1b 在成人骨髓红细胞和血小板生成中有明确而严格的要求。
J Exp Med. 2014 May 5;211(5):909-27. doi: 10.1084/jem.20131065. Epub 2014 Apr 7.

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

作者信息

Schulze Harald, Schlagenhauf Axel, Manukjan Georgi, Beham-Schmid Christine, Andres Oliver, Klopocki Eva, König Eva-Maria, Haidl Harald, Panzer Simon, Althaus Karina, Muntean Wolfgang E, Schwinger Wolfgang, Urban Christian, Greinacher Andreas, Bakchoul Tamam, Seidel Markus G

机构信息

Chair of Experimental Biomedicine I, University Hospital Würzburg, Germany

Department of Pediatrics and Adolescent Medicine, Medical University Graz, Austria.

出版信息

Haematologica. 2017 Sep;102(9):e375-e378. doi: 10.3324/haematol.2017.167957. Epub 2017 May 26.

DOI:10.3324/haematol.2017.167957
PMID:28550182
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5685231/
Abstract
摘要