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Article

DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.

Journal of genetics and genomics = Yi chuan xue bao - 20 Jun 2020

Liu Lingling, Liu Weiqi, Shi Yan, Li Ling, Gao Yunqian, Lei Yunping, Finnell Richard, Zhang Ting, Zhang Feng, Jin Li, Li Huili, Tao Wufan, Wang Hongyan

Abstract excerpt

Wnt signaling pathways, including the canonical Wnt/β-catenin pathway, planar cell polarity pathway, and Wnt/Ca2+ signaling pathway, play important roles in neural development during embryonic stages. The DVL genes encode the hub proteins for Wnt signaling pathways. The mutations in DVL2 and DVL3 were identified from patients with neural tube defects (NTDs), but their functions in the pathogenesis of human neural...

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PMID: 32900645
DOI: 10.1016/j.jgg.2020.06.003

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