The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance.
作者信息
Girolami Antonio, Ferrari Silvia, Cosi Elisabetta, Randi Maria Luigia
机构信息
1 Department of Medicine, University of Padua Medical School, Padua, Italy.
出版信息
Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029619841701. doi: 10.1177/1076029619841701.
Abstract
摘要
相似文献
1
The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance.由精氨酸596突变引起的凝血酶原异常血症：一个因抗凝血酶抵抗而无出血倾向和静脉血栓形成的难题。
Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029619841701. doi: 10.1177/1076029619841701.
2
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed.先天性凝血酶原缺陷：它们不仅与出血有关，还与血栓形成有关：需要一种新的分类方法。
Hematology. 2018 Mar;23(2):105-110. doi: 10.1080/10245332.2017.1359900. Epub 2017 Aug 1.
3
Antithrombin alfa in hereditary antithrombin deficient patients: A phase 3 study of prophylactic intravenous administration in high risk situations.遗传性抗凝血酶缺乏患者使用抗凝血酶α：在高风险情况下预防性静脉给药的3期研究。
Thromb Haemost. 2008 Mar;99(3):616-22. doi: 10.1160/TH07-08-0489.
4
Prothrombin: Another Clotting Factor After FV That Is Involved Both in Bleeding and Thrombosis.凝血酶原：继FV之后的另一种凝血因子，与出血和血栓形成均有关。
Clin Appl Thromb Hemost. 2018 Sep;24(6):845-849. doi: 10.1177/1076029618770741. Epub 2018 Apr 24.
5
[TAFI plasma levels are not increased in patients with venous thromboembolic disease and factor V Leiden or prothrombin 20210A mutations].静脉血栓栓塞性疾病合并因子V莱顿突变或凝血酶原20210A突变患者的凝血酶激活的纤溶抑制物血浆水平未升高
Med Clin (Barc). 2006 Sep 23;127(11):436. doi: 10.1157/13092788.
6
Paradoxical bleeding and thrombotic episodes of dysprothrombinaemia due to a homozygous Arg382His mutation.由于纯合子Arg382His突变导致的凝血异常血症的矛盾性出血和血栓形成事件。
Thromb Haemost. 2017 Feb 28;117(3):479-490. doi: 10.1160/TH16-10-0750. Epub 2016 Dec 15.
7
New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.与静脉血栓栓塞相关的新型凝血酶原突变（Arg596Trp，凝血酶原帕多瓦2型）
Arterioscler Thromb Vasc Biol. 2016 May;36(5):1022-9. doi: 10.1161/ATVBAHA.115.306914. Epub 2016 Mar 24.
8
Missense mutations in the gene encoding prothrombin corresponding to Arg596 cause antithrombin resistance and thrombomodulin resistance.编码凝血酶原的基因中的错义突变对应于 Arg596，导致抗凝血酶抵抗和血栓调节蛋白抵抗。
Thromb Haemost. 2016 Nov 30;116(6):1022-1031. doi: 10.1160/TH16-03-0223. Epub 2016 Sep 8.
9
Molecular mechanisms of antithrombin deficiency in two Chinese families. One novel and one recurrent point mutation in the antithrombin gene causing venous thrombosis.
Thromb Haemost. 2005 Dec;94(6):1172-6. doi: 10.1160/TH05-06-0450.
10
Congenital prothrombin deficiency: an update.先天性凝血酶原缺乏症：更新。
Semin Thromb Hemost. 2013 Sep;39(6):596-606. doi: 10.1055/s-0033-1348948. Epub 2013 Jul 12.
本文引用的文献
1
In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.体外探索具有抗凝血酶抵抗性的潜伏凝血酶原突变体。
Thromb Res. 2017 Nov;159:33-38. doi: 10.1016/j.thromres.2017.09.020. Epub 2017 Sep 20.
2
Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism.在一个大型塞尔维亚家族中对凝血酶原贝城突变的临床和生化特征进行研究：对抗凝血酶抵抗机制的新见解。
J Thromb Haemost. 2017 Apr;15(4):670-677. doi: 10.1111/jth.13618. Epub 2017 Feb 24.
3
New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.与静脉血栓栓塞相关的新型凝血酶原突变（Arg596Trp，凝血酶原帕多瓦2型）
Arterioscler Thromb Vasc Biol. 2016 May;36(5):1022-9. doi: 10.1161/ATVBAHA.115.306914. Epub 2016 Mar 24.
4
A novel prothrombin mutation in two families with prominent thrombophilia--the first cases of antithrombin resistance in a Caucasian population.两个具有显著血栓形成倾向的家族中发现一种新型凝血酶原突变——白种人群中首例抗凝血酶抵抗病例。
J Thromb Haemost. 2013 Oct;11(10):1936-9. doi: 10.1111/jth.12367.
5
Congenital prothrombin deficiency: an update.先天性凝血酶原缺乏症：更新。
Semin Thromb Hemost. 2013 Sep;39(6):596-606. doi: 10.1055/s-0033-1348948. Epub 2013 Jul 12.
6
Molecular defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin.“凝血酶安姆丽塔”的分子缺陷：凝血酶钠离子结合环附近精氨酸被谷氨酰胺取代（精氨酸553变为谷氨酰胺）
Blood Cells Mol Dis. 2013 Mar;50(3):182-3. doi: 10.1016/j.bcmd.2012.11.008. Epub 2012 Dec 21.
7
Thrombosis from a prothrombin mutation conveying antithrombin resistance.由携带抗凝血酶抵抗的凝血酶原突变引起的血栓形成。
N Engl J Med. 2012 Jun 21;366(25):2390-6. doi: 10.1056/NEJMoa1201994.
8
Congenital bleeding disorders of the vitamin K-dependent clotting factors.维生素K依赖凝血因子的先天性出血性疾病。
Vitam Horm. 2008;78:281-374. doi: 10.1016/S0083-6729(07)00014-3.
9
Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin.凝血酶原圣丹尼丝：一种天然变体，存在一个点突变，导致凝血酶原第552位的天冬氨酸被谷氨酸替代。
Br J Haematol. 2006 Mar;132(6):770-3. doi: 10.1111/j.1365-2141.2005.05920.x.
Zotero 插件