Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A

por Sun, Kuanxiang, Tian, Wanli, Li, Xiao, Liu, Wenjing, Yang, Yeming, Zhu, Xianjun
Publicado 2020

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next-generation sequencing

por Zhu, Xiong, Li, Xiao, Tian, Wanli, Yang, Yeming, Sun, Kuanxiang, Li, Shuzhen, Zhu, Xianjun
Publicado 2020

The phosphatidylserine flippase β-subunit Tmem30a is essential for normal insulin maturation and secretion

por Yang, Yeming, Sun, Kuanxiang, Liu, Wenjing, Li, Xiao, Tian, Wanli, Shuai, Ping, Zhu, Xianjun
Publicado 2021

Loss of the ER membrane protein complex subunit Emc3 leads to retinal bipolar cell degeneration in aged mice

por Zhu, Xiong, Qi, Xin, Yang, Yeming, Tian, Wanli, Liu, Wenjing, Jiang, Zhilin, Li, Shuzhen, Zhu, Xianjun
Publicado 2020

Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis

por Liu, Wenjing, Peng, Lei, Tian, Wanli, Li, Yi, Zhang, Ping, Sun, Kuanxiang, Yang, Yeming, Li, Xiao, Li, Guisen, Zhu, Xianjun
Publicado 2021

Deletion of Asrgl1 Leads to Photoreceptor Degeneration in Mice

por Zhou, Yu, Tian, Wanli, Jiang, Xiaoyan, Yang, Huining, Jiang, Zhilin, Li, Xiao, Jiang, Dan, Sun, Kuanxiang, Yang, Yeming, Liu, Wenjing, Zhu, Xianjun
Publicado 2022

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis

por Yang, Yeming, Li, Xiao, Wang, Jieping, Tan, Junkai, Fitzmaurice, Bernie, Nishina, Patsy M., Sun, Kuanxiang, Tian, Wanli, Liu, Wenjing, Liu, Xuyang, Chang, Bo, Zhu, Xianjun
Publicado 2021