Identification of novel rare mutations of DACT1 in human neural tube defects.

@article{Shi2012IdentificationON,
  title={Identification of novel rare mutations of DACT1 in human neural tube defects.},
  author={Yan Shi and Yi Ding and Yun-Ping Lei and Xue-yan Yang and Guo-ming Xie and Jun Wen and Chun-Quan Cai and Hong Li and Yin Chen and Ting Zhang and Bai-Lin Wu and Li Jin and Ye-Guang Chen and Hong-yan Wang},
  journal={Human mutation},
  year={2012},
  volume={33 10},
  pages={1450-5}
}
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 that five missense heterozygote mutations of the DACT1 gene are specifically… CONTINUE READING
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