Article
Low folate concentration impacts mismatch repair deficiency in neural tube defects.
Epigenomics - 1 Jan 2020
Li Huili, Wang Xiaolei, Zhao Huizhi, Wang Fang, Bao Yihua, Guo Jin, Chang Shaoyan, Wu Lihua, Cheng Haiqin, Chen Shuyuan, Zou Jizhen, Cui Xiaodai, Niswander Lee, Finnell Richard H, Wang Hongyan, Zhang Ting
Abstract excerpt
Aim: To know the cause of sequence variants in neural tube defect (NTD). Materials & methods: We sequenced genes implicated in neural tube closure (NTC) in a Chinese cohort and elucidated the molecular mechanism-driving mutations. Results: In NTD cases, an increase in specific variants was identified, potentially deleterious rare variants harbored in H3K36me3 occupancy regions that recruits mismatch repair (MMR)...
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