Article
Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.
Human mutation - 1 Aug 2013
Yang Xue-Yan, Zhou Xiang-Yu, Wang Qing Qing, Li Hong, Chen Ying, Lei Yun-Ping, Ma Xiao-Hang, Kong Pan, Shi Yan, Jin Li, Zhang Ting, Wang Hong-Yan
Abstract excerpt
Neural tube defects (NTDs) are severe birth malformations that affect one in 1,000 live births. Recently, mutations in the planar cell polarity (PCP) pathway genes had been implicated in the pathogenesis of NTDs in both the mouse model and in human cohorts. Mouse models indicate that the homozygous disruption of Sec24b, which mediates the ER-to-Golgi transportation of the core PCP gene Vangl2 as a component of...
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