关于疾病定义的有趣变化：血管性血友病与血小板无力症的比较 - Suppr | 超能文献

Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia.

作者信息

Nurden A T

出版信息

J Thromb Haemost. 2007 Mar;5(3):647-9; author reply 649-51. doi: 10.1111/j.1538-7836.2007.02368.x. Epub 2006 Dec 13.

DOI:10.1111/j.1538-7836.2007.02368.x

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia.关于疾病定义的有趣变化：血管性血友病与血小板无力症的比较

J Thromb Haemost. 2007 Mar;5(3):647-9; author reply 649-51. doi: 10.1111/j.1538-7836.2007.02368.x. Epub 2006 Dec 13.

2

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome.与活化的αIIbβ3相关的异常细胞质延伸可能是Glanzmann血小板无力症样综合征中巨血小板减少症的病因。

Blood Coagul Fibrinolysis. 2015 Apr;26(3):302-8. doi: 10.1097/MBC.0000000000000241.

3

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.了解血管性血友病的遗传基础：对治疗的影响。

Expert Rev Hematol. 2012 Oct;5(5):487-503. doi: 10.1586/ehm.12.46.

4

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.扩大Glanzmann血小板无力症中影响αIIbβ3整合素的突变谱：在一个大型国际队列中对ITGA2B和ITGB3基因进行筛查

Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.

5

Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.《Glanzmann 血小板无力症患者的特征分析及 17 种新突变的鉴定》

Thromb Haemost. 2015 Apr;113(4):782-91. doi: 10.1160/TH14-05-0479. Epub 2014 Nov 6.

6

Identification of one novel pathogenic mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.鉴定两个中国家系遗传性血小板无力症中一个新的致病性突变和两个已知突变。

Platelets. 2020;31(3):355-359. doi: 10.1080/09537104.2019.1615614. Epub 2019 May 14.

7

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.对人血小板中由ITGA2B变体引起的整合素αIIb膝部及其周围结构修饰的计算机模拟分析，重点关注Glanzmann血小板无力症。

Mol Genet Genomic Med. 2018 Mar;6(2):249-260. doi: 10.1002/mgg3.365. Epub 2018 Jan 31.

8

A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.糖蛋白（GP）IIIa富含半胱氨酸结构域中的一个点突变导致表达一种锁定在高亲和力状态的GPIIb-IIIa（αIIbβ3）整合素受体以及类似血小板无力症的表型。

Blood. 2001 Oct 15;98(8):2432-41. doi: 10.1182/blood.v98.8.2432.

9

Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.糖蛋白IIb亮氨酸214脯氨酸突变导致血小板无力症，伴有糖蛋白IIb/IIIa的数量和质量异常。

Blood. 1998 Mar 1;91(5):1562-71.

10

A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.一名患有变异型Glanzmann血小板无力症患者的β3亚基天冬氨酸217位点替换为缬氨酸，这严重影响整合素αIIBβ3的功能。

Blood Coagul Fibrinolysis. 2008 Oct;19(7):657-62. doi: 10.1097/MBC.0b013e3283048e42.