Article
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.
Human mutation - 1 Apr 2017
Chen Xiaoli, An Yu, Gao Yonghui, Guo Liu, Rui Lei, Xie Hua, Sun Mei, Lam Hung Siv, Sheng Xiaoming, Zou Jizhen, Bao Yihua, Guan Hongyan, Niu Bo, Li Zandong, Finnell Richard H, Gusella James F, Wu Bai-Lin, Zhang Ting
Abstract excerpt
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial neural tube defect (NTD) susceptibility prompted us to hypothesize that rare variants of genes in the core apical-basal polarity (ABP) pathway are risk factors for cranial NTDs. In this study, we screened for rare genomic variation of PARD3 in 138 cranial NTD cases and 274 controls. Overall, the rare deleterious...
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