Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B
作者: Stefan LorochKatharina TraboldStepan GambaryanCora Rei&szligKathrin SchwierczekIngrid FlemingAlbert SickmannWolfgang BehnischBarbara ZiegerRen&eacute P. ZahediUlrich WalterKerstin Jurk
作者单位: 1Kerstin Jurk, Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Langenbeckstr. 1, 55131 Mainz, Germany, Tel.: +49 6131 178278, Fax: +49 6131 176238, E-mail: kerstin.jurk@unimedizin-mainz.de
刊名: Thromb Haemost, 2017, Vol.117 (3), pp.556-569
来源数据库: Schattauer GmbH
DOI: 10.1160/TH16-07-0515
关键词: Glanzmann thrombastheniahaemorrhage&alphaIIb&beta3 integrinplateletsproteomics
原始语种摘要: Glanzmann thrombasthenia (GT) is one of the best characterised inherited platelet function disorders but global platelet proteome has not been determined in these patients. We investigated the proteome and function of platelets from two patients with type I GT, caused by different homozygous ITGA2b mutations, from family members and unrelated controls. The global proteome of highly purified washed platelets was quantified by liquid chromatography-mass spectrometry (LC-MS) and targeted MS-methods. Platelet function was analysed by flow cytometry, light transmission aggregometry and flow-based assays. Platelets from GT patients showed less than 5 % relative levels of the integrin subunit αIIb and 5–9 % fibrinogen compared to controls. These patients...
全文获取路径: Schattauer 出版社 
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影响因子:6.094 (2012)

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关键词翻译
关键词翻译
  • homozygous 纯合的
  • thrombasthenia 血小板机能不全
  • platelet 血小板
  • demonstrated 探明的储量
  • known 己知
  • purified 净化的
  • increased 增加
  • relative 相对的
  • expression 表示
  • family