Article
Identification of novel rare mutations of DACT1 in human neural tube defects.
Human mutation - 1 Oct 2012
Shi Yan, Ding Yi, Lei Yun-Ping, Yang Xue-Yan, Xie Guo-Ming, Wen Jun, Cai Chun-Quan, Li Hong, Chen Ying, Zhang Ting, Wu Bai-Lin, Jin Li, Chen Ye-Guang, Wang Hong-Yan
Abstract excerpt
Neural tube defects (NTDs) constitute the second most frequent cause of human congenital abnormalities. Complex multigenetic causes have been suggested to contribute to NTDs. The planar cell polarity (PCP) pathway plays a critical role in neural tube closure in model organisms and in human. Knockout of Dact1 (Dapper, Frodo) leads to deregulated PCP signaling with defective neural tube in mice. Here, we report...
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