Literature DB >> 34896607

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.

Shujin Li1, Mu Yang1, Yunqi He1, Xiaoyan Jiang2, Rulian Zhao2, Wenjing Liu2, Lulin Huang1, Yi Shi1, Xiao Li2, Kuanxiang Sun2, Yeming Yang2, Periasamy Sundaresan3, Peiquan Zhao4, Zhenglin Yang5, Xianjun Zhu6.   

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Year:  2021        PMID： 34896607     DOI： 10.1016/j.jgg.2021.11.010

Source DB:  PubMed          Journal:  J Genet Genomics        ISSN： 1673-8527            Impact factor:   5.723


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  2 in total

1.  A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

Authors:  Li Peng; Erkuan Dai; Haodong Xiao; Rulian Zhao; Yunqi He; Shujin Li; Mu Yang; Zhenglin Yang; Peiquan Zhao
Journal:  Mol Genet Genomic Med       Date:  2022-04-13       Impact factor: 2.473

2.  CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.

Authors:  Mu Yang; Shujin Li; Li Huang; Rulian Zhao; Erkuan Dai; Xiaoyan Jiang; Yunqi He; Jinglin Lu; Li Peng; Wenjing Liu; Zhaotian Zhang; Dan Jiang; Yi Zhang; Zhilin Jiang; Yeming Yang; Peiquan Zhao; Xianjun Zhu; Xiaoyan Ding; Zhenglin Yang
Journal:  JCI Insight       Date:  2022-07-22
  2 in total

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