错义突变
细胞生物学
信号转导
生物
计算生物学
化学
遗传学
突变
基因
作者
Louisa Mayer,Maria Jasztal,Mercedes Pardo,Salvadora Aguera de Haro,Janine Collins,Tadbir K. Bariana,Peter A. Smethurst,Luigi Grassi,R. Petersen,Paquita Nurden,Rémi Favier,Lu Yu,Stuart Meacham,William J. Astle,Jyoti S. Choudhary,Wyatt W. Yue,Willem H. Ouwehand,José A. Guerrero
出处
期刊:Blood
[Elsevier BV]
日期:2017-11-29
卷期号:131 (9): 1000-1011
被引量:40
标识
DOI:10.1182/blood-2017-08-800359
摘要
Key Points Nbeal2 interacts with Dock7, Sec16a, and Vac14; and missense variants that cause GPS disrupt the binding of Dock7 and Vac14. The level of the α-granule protein Dock7 in platelets from Nbeal2−/− mice and GPS cases is reduced and its signaling pathway is dysregulated.
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