Article
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
PloS one - 1 Jan 2020
Miyao Nariaki, Hata Yukiko, Izumi Hironori, Nagaoka Ryo, Oku Yuko, Takasaki Ichiro, Ishikawa Taisuke, Takarada Shinya, Okabe Mako, Nakaoka Hideyuki, Ibuki Keijiro, Ozawa Sayaka, Yoshida Tomoyuki, Hasegawa Hideyuki, Makita Naomasa, Nishida Naoki, Mori Hisashi, Ichida Fukiko, Hirono Keiichi
Abstract excerpt
BACKGROUND: TBX5 is a transcription factor that has an important role in development of heart. TBX5 variants in the region encoding the T-box domain have been shown to cause cardiac defects, such as atrial septal defect or ventricular septal defect, while TBX5 variants have also been identified in a few cardiomyopathy patients and considered causative. We identified a TBX5 variant (c.791G>A, p.Arg264Lys), that is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.