Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect

por Xie, Huilin, Hong, Nanchao, Zhang, Erge, Li, Fen, Sun, Kun, Yu, Yu
Publicado 2019

Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

por Xie, Huilin, Zhang, Erge, Hong, Nanchao, Fu, Qihua, Li, Fen, Chen, Sun, Yu, Yu, Sun, Kun
Publicado 2018

A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity

por Xu, Yuejuan, Fang, Shaohai, Zhang, Erge, Pu, Tian, Cao, Ruixue, Fu, Qihua, Li, Fen, Chen, Sun, Sun, Kun, Xu, Rang
Publicado 2017

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplica...

por Hong, Nanchao, Zhang, Erge, Wang, Qingjie, Zhang, Xiaoqing, Li, Fen, Fu, Qihua, Xu, Rang, Yu, Yu, Chen, Sun, Xu, Yuejuan, Sun, Kun
Publicado 2018

The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling

por Hong, Nanchao, Zhang, Erge, Xie, Huilin, Jin, Lihui, Zhang, Qi, Lu, Yanan, Chen, Alex F., Yu, Yongguo, Zhou, Bin, Chen, Sun, Yu, Yu, Sun, Kun
Publicado 2021