Ontology highlight
ABSTRACT:
SUBMITTER: Cao X
PROVIDER: S-EPMC7185173 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Cao Xuanye X Tian Tian T Steele John W JW Cabrera Robert M RM Aguiar-Pulido Vanessa V Wadhwa Shruti S Bhavani Nikitha N Bi Patrick P Gargurevich Nick H NH Hoffman Ethan N EN Cai Chun-Quan CQ Marini Nicholas J NJ Yang Wei W Shaw Gary M GM Ross Margaret E ME Finnell Richard H RH Lei Yunping Y
Human mutation 20200116 4
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 RAD9B variants in spina bifida cases compared to controls (8/409 vs. 0/298; p = .0241). ...[more]