TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Nariaki MiyaoYukiko HataHironori IzumiRyo NagaokaYuko OkuIchiro TakasakiTaisuke IshikawaShinya TakaradaMako OkabeHideyuki NakaokaKeijiro IbukiSayaka OzawaTomoyuki YoshidaHideyuki HasegawaNaomasa MakitaNaoki NishidaHisashi MoriFukiko IchidaKeiichi HironoPublished in: PloS one (2020)
Mice homozygous for Tbx5 R264K showed compensated dilated cardiomyopathy. Thus, TBX5 R264K may have a significant pathogenic role in some cardiomyopathy patients independently of T-box domain pathway.