A clinical and multi-omics study of Van der Woude syndrome in three generations of a Chinese family

por Yang, Kai, Dong, Xing-Yue, Wu, Jue, Zhu, Jian-Jiang, Tan, Ya, Yan, You-Sheng, Lin, Li, Zhang, Dong-Liang
Publicado 2020

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis

por Huang, Yan-xia, Gao, Chun-yan, Zheng, Chun-yan, Chen, Xu, Yan, You-sheng, Sun, Yong-qing, Dong, Xing-yue, Yang, Kai, Zhang, Dong-liang
Publicado 2021

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

por Yang, Kai, Fu, Li‐Man, Chu, Xiao‐Yang, Zhang, Jing, Chen, Wen‐Qi, Yan, You‐Sheng, Wang, Yi‐Peng, Zhang, Dong‐Liang, Yin, Cheng‐Hong, Guo, Qing
Publicado 2023

Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis

por Yang, Kai, Xu, Yi-Cheng, Hu, Hua-Ying, Li, Ya-Zhou, Li, Qian, Luan, Ying-Yi, Liu, Yan, Sun, Yong-Qing, Feng, Zhan-Ke, Yan, You-Sheng, Yin, Cheng-Hong
Publicado 2021

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta

por Yang, Kai, Liu, Yan, Wu, Jue, Zhang, Jing, Hu, Hua-ying, Yan, You-sheng, Chen, Wen-qi, Yang, Shu-fa, Sun, Li-juan, Sun, Yong-qing, Wu, Qing-qing, Yin, Cheng-hong
Publicado 2022

NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway

por Yang, Kai, Wu, Jue, Li, Shang, Wang, Shan, Zhang, Jing, Wang, Yi-peng, Yan, You-sheng, Hu, Hua-ying, Xiong, Ming-fang, Bai, Chao-bo, Sun, Yong-qing, Chen, Wen-qi, Zeng, Yang, Yuan, Jun-liang, Yin, Cheng-hong
Publicado 2023