Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes blindness. FEVR has been linked to mutations in several genes associated with inactivation of the Norrin/β-catenin signaling pathway, but these account for only approximately 50% of cases. We report that mut...

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Опубликовано в: :J Clin Invest
Главные авторы: Zhu, Xianjun, Yang, Mu, Zhao, Peiquan, Li, Shujin, Zhang, Lin, Huang, Lulin, Huang, Yi, Fei, Ping, Yang, Yeming, Zhang, Shanshan, Xu, Huijuan, Yuan, Ye, Zhang, Xiang, Zhu, Xiong, Ma, Shi, Hao, Fang, Sundaresan, Periasamy, Zhu, Weiquan, Yang, Zhenglin
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2021
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7954601/
https://ncbi.nlm.nih.gov/pubmed/33497368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI139869
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