Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis.
Yuta KochiYoichiro KamataniYuya KondoAkari SuzukiEiryo KawakamiRyosuke HiwaYukihide MomozawaManabu FujimotoMasatoshi JinninYoshiya TanakaTakashi KandaRobert G CooperGabriela Arredondo Hector ChinoySimon RothwellJanine A LambJiří VencovskýHeřman MannKoichiro OhmuraKeiko MyouzenKazuyoshi IshigakiRan NakashimaYuji HosonoHiroto TsuboiHidenaga KawasumiYukiko IwasakiHiroshi KajiyamaTetsuya HoritaMariko Ogawa-MomoharaAkito TakamuraShinichiro TsunodaJun ShimizuKeishi FujioHirofumi AmanoAkio MimoriAtsushi KawakamiHisanori UmeharaTsutomu TakeuchiHajime SanoYoshinao MuroTatsuya AtsumiToshihide MimuraYasushi KawaguchiTsuneyo MimoriAtsushi TakahashiMichiaki KuboHitoshi KohsakaTakayuki SumidaKazuhiko YamamotoPublished in: Annals of the rheumatic diseases (2018)
As CADM is characterised by the appearance of anti-MDA5 autoantibodies and severe lung inflammation, the WDFY4 variant may play a critical role in the pathogenesis of CADM.