Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice
无义变异PRDM16-Q187X导致心肌发育和TGF-β信号传导受损,从而导致人类和小鼠出现致密性心肌病。
期刊:Circulation-Heart Failure
影响因子:8.4
doi:10.1161/CIRCHEARTFAILURE.122.010351
Sun, Bo; Rouzbehani, Omid M T; Kramer, Ryan J; Ghosh, Rajeshwary; Perelli, Robin M; Atkins, Sage; Fatahian, Amir Nima; Davis, Kathryn; Szulik, Marta W; Goodman, Michael A; Hathaway, Marissa A; Chi, Ellenor; Word, Tarah A; Tunuguntla, Hari; Denfield, Susan W; Wehrens, Xander H T; Whitehead, Kevin J; Abdelnasser, Hala Y; Warren, Junco S; Wu, Mingfu; Franklin, Sarah; Boudina, Sihem; Landstrom, Andrew P
心肌病
TGF-β
信号转导
心血管
Human
PRDM1
发育与干细胞