作者
Casimiro Castillejo-López, Angélica M Delgado-Vega, Jerome Wojcik, Sergey V Kozyrev, Elangovan Thavathiru, Ying-Yu Wu, Elena Sánchez, David Pöllmann, Juan R López-Egido, Serena Fineschi, Nicolás Domínguez, Rufei Lu, Judith A James, Joan T Merrill, Jennifer A Kelly, Kenneth M Kaufman, Kathy L Moser, Gary Gilkeson, Johan Frostegård, Bernardo A Pons-Estel, Sandra D'Alfonso, Torsten Witte, José Luis Callejas, John B Harley, Patrick M Gaffney, Javier Martin, Joel M Guthridge, Marta E Alarcón-Riquelme
发表日期
2012/1/1
期刊
Annals of the rheumatic diseases
卷号
71
期号
1
页码范围
136-142
出版商
BMJ Publishing Group Ltd
简介
Objectives
Altered signalling in B cells is a predominant feature of systemic lupus erythematosus (SLE). The genes BANK1 and BLK were recently described as associated with SLE. BANK1 codes for a B-cell-specific cytoplasmic protein involved in B-cell receptor signalling and BLK codes for an Src tyrosine kinase with important roles in B-cell development. To characterise the role of BANK1 and BLK in SLE, a genetic interaction analysis was performed hypothesising that genetic interactions could reveal functional pathways relevant to disease pathogenesis.
Methods
The GPAT16 method was used to analyse the gene–gene interactions of BANK1 and BLK. Confocal microscopy was used to investigate co-localisation, and immunoprecipitation was used to verify the physical interaction of BANK1 and BLK.
Results
Epistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed …
学术搜索中的文章
C Castillejo-López, AM Delgado-Vega, J Wojcik… - Annals of the rheumatic diseases, 2012