Article
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain : a journal of neurology - 1 Aug 2023
Liu Fang, Liang Chen, Li Zhengchang, Zhao Sen, Yuan Haiming, Yao Ruen, Qin Zailong, Shangguan Shaofang, Zhang Shujie, Zou Li-Ping, Chen Qian, Gao Zhijie, Wen Suiwen, Peng Jing, Yin Fei, Chen Fei, Qiu Xiaoxia, Luo Jingsi, Xie Yingjun, Lu Dian, Zhang Yu, Xie Hua, Li Guozhuang, Zhang Terry Jianguo, Luan Pengfei, Wang Hongying, Cui Xiaodai, Huang Hailiang, Liu Ruize, Sun Xiaofang, Chen Chao, Wu Nan, Wang Jian, Liu Chunyu, Shen Yiping, Gusella James F, Chen Xiaoli
Abstract excerpt
Recurrent proximal 16p11.2 deletion (16p11.2del) is a risk factor for diverse neurodevelopmental disorders with incomplete penetrance and variable expressivity. Although investigation with human induced pluripotent stem cell models has confirmed disruption of neuronal development in 16p11.2del neuronal cells, which genes are responsible for abnormal cellular phenotypes and what determines the penetrance of...
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