Article
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.
Human mutation - 1 Apr 2020
Cao Xuanye, Tian Tian, Steele John W, Cabrera Robert M, Aguiar-Pulido Vanessa, Wadhwa Shruti, Bhavani Nikitha, Bi Patrick, Gargurevich Nick H, Hoffman Ethan N, Cai Chun-Quan, Marini Nicholas J, Yang Wei, Shaw Gary M, Ross Margaret E, Finnell Richard H, Lei Yunping
Abstract excerpt
DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle control, are essential for the rapid proliferation of neural progenitor cells. To date, the potential association between specific DDR genes and the risk of human neural tube defects (NTDs) has not been investigated. Using whole-genome sequencing and targeted sequencing, we identified significant enrichment of rare deleterious...
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