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A de novo PACSIN1 gene variant found in childhood lupus reveals a role for PACSIN1-TRAF4 complex in TLR7 activation.

Chengmei XieHaibo ZhouVicki AthanasopoulosQian ShenYaoyuan ZhangXiangpeng MengGaetan BurgioTodor ArsovAdrian C LunguPingjing ZhangYuting QinJiangyang MaXiaoqian WuXiaoyue JiangHuihua DingYao MengNan ShenYuke HeCarola G Vinuesa
Published in: Arthritis & rheumatology (Hoboken, N.J.) (2023)
PACSIN1 Q59K increases IFN-β activity via impairing TRAF4-mediated inhibition of TLR7 signaling, possibly contributing to SLE risk. This article is protected by copyright. All rights reserved.
Keyphrases
  • systemic lupus erythematosus
  • immune response
  • toll like receptor
  • inflammatory response
  • disease activity
  • nuclear factor
  • dendritic cells
  • copy number
  • genome wide
  • young adults
  • dna methylation
  • transcription factor