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Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.流式细胞术检测MPL（CD110）作为先天性血小板减少症鉴别诊断的工具。
Haematologica. 2015 Sep;100(9):e341-4. doi: 10.3324/haematol.2015.125963. Epub 2015 Apr 24.
2
Thrombopoietin in thrombocytopenias of childhood.血小板生成素与儿童血小板减少症
Semin Thromb Hemost. 2001 Jun;27(3):215-28. doi: 10.1055/s-2001-15251.
3
[Analysis of Glanzmann's thrombasthenia and Bernard-Soulier syndrome using flow cytometry].[运用流式细胞术分析血小板无力症和巨大血小板综合征]
Rinsho Ketsueki. 1987 Mar;28(3):377-85.
4
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome.遗传性血小板疾病，包括Glanzmann血小板无力症和Bernard-Soulier综合征。
Hematology Am Soc Hematol Educ Program. 2013;2013:268-75. doi: 10.1182/asheducation-2013.1.268.
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Bernard-Soulier syndrome: a flow cytometric analysis of membrane GP-Ib expression.伯纳德-索利尔综合征：膜糖蛋白Ib表达的流式细胞术分析
Turk J Pediatr. 1996 Jul-Sep;38(3):375-9.
6
A 3-year-old girl with frequent nose bleeds.
Clin Chem. 2013 May;59(5):746-9. doi: 10.1373/clinchem.2012.188409.
7
[Bernard-Soulier syndrome. An important differential diagnosis in chronic thrombocytopenia with bleeding complications].[伯纳德-索利尔综合征。慢性血小板减少伴出血并发症的重要鉴别诊断]
Monatsschr Kinderheilkd. 1993 Jun;141(6):483-6.
8
[Bernard-Soulier thrombocytopenia: clinical significance of a rare disorder].[伯纳德-索利尔血小板减少症：一种罕见疾病的临床意义]
Schweiz Med Wochenschr. 1996 Oct 26;126(43):1834-41.
9
Congenital amegakaryocytic thrombocytopenia.先天性巨核细胞血小板减少症。
Pediatr Blood Cancer. 2011 Aug;57(2):199-203. doi: 10.1002/pbc.22927. Epub 2011 Feb 18.
10
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.先天性无巨核细胞性血小板减少症和桡骨缺如性血小板减少症。
Hematol Oncol Clin North Am. 2009 Apr;23(2):321-31. doi: 10.1016/j.hoc.2009.01.012.

引用本文的文献

1
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.CAMT-MPL：由 MPL 突变引起的先天性巨核细胞血小板减少症——一种单基因疾病的异质性——56 例患者的综合分析。
Haematologica. 2021 Sep 1;106(9):2439-2448. doi: 10.3324/haematol.2020.257972.
2
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.MECOM 相关综合征：一种具有巨核细胞减少性血小板减少症的异质性遗传性骨髓衰竭综合征。
Blood Adv. 2018 Mar 27;2(6):586-596. doi: 10.1182/bloodadvances.2018016501.
3
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.先天性巨核细胞血小板减少症伴血小板生成素突变可治疗性药物：罗米司亭。
EMBO Mol Med. 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168.

本文引用的文献

1
Mouse monoclonal antibodies against human c-Mpl and characterization for flow cytometry applications.抗人c-Mpl的小鼠单克隆抗体及其在流式细胞术应用中的特性分析
Hybridoma (Larchmt). 2010 Apr;29(2):103-13. doi: 10.1089/hyb.2009.0095.
2
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.先天性无巨核细胞性血小板减少症认识上的进展
Br J Haematol. 2009 Jun;146(1):3-16. doi: 10.1111/j.1365-2141.2009.07706.x. Epub 2009 Apr 21.
3
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.由MPL基因中的新型种系突变p.Pro106Leu引起的家族性血小板增多症。
Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19.
4
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.先天性无巨核细胞性血小板减少症：五个新突变的临床和生物学后果
Haematologica. 2007 Sep;92(9):1186-93. doi: 10.3324/haematol.11425. Epub 2007 Aug 1.
5
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.23例先天性无巨核细胞性血小板减少症患者的MPL突变：突变类型可预测疾病进程。
Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9415.
6
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation.一个患有家族性血小板疾病并易患急性髓性白血病的家系中低Mpl受体表达及一种新的AML1突变
Blood. 2005 Jun 15;105(12):4664-70. doi: 10.1182/blood-2005-01-0050. Epub 2005 Mar 1.
7
Application of flow cytometry to platelet disorders.流式细胞术在血小板疾病中的应用。
Semin Thromb Hemost. 2004 Oct;30(5):501-11. doi: 10.1055/s-2004-835671.
8
Internalization of the thrombopoietin receptor is regulated by 2 cytoplasmic motifs.血小板生成素受体的内化受两个细胞质基序调控。
Blood. 2003 Jul 1;102(1):102-8. doi: 10.1182/blood-2002-11-3468. Epub 2003 Mar 6.
9
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.c-mpl突变是先天性无巨核细胞血小板减少症的病因。
Blood. 2001 Jan 1;97(1):139-46. doi: 10.1182/blood.v97.1.139.
10
The platelet thrombopoietin receptor number and function are markedly decreased in patients with essential thrombocythaemia.原发性血小板增多症患者的血小板生成素受体数量及功能显著降低。
Br J Haematol. 2000 Dec;111(3):943-53.

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.

作者信息

Ballmaier Matthias, Holter Wolfgang, Germeshausen Manuela

机构信息

Dept. of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany

Dept. of Pediatric Hematology and Oncology, University Hospital Erlangen, Germany, present address: St. Anna Children's Hospital, Vienna, Austria.

出版信息

Haematologica. 2015 Sep;100(9):e341-4. doi: 10.3324/haematol.2015.125963. Epub 2015 Apr 24.

DOI:10.3324/haematol.2015.125963
PMID:25911549
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4800683/
Abstract
摘要