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

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential for vascularization with unclear function in postnatal physiological angiogenesis. Here, we applied whole-exome sequenci...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Mu, Li, Shujin, Huang, Li, Zhao, Rulian, Dai, Erkuan, Jiang, Xiaoyan, He, Yunqi, Lu, Jinglin, Peng, Li, Liu, Wenjing, Zhang, Zhaotian, Jiang, Dan, Zhang, Yi, Jiang, Zhilin, Yang, Yeming, Zhao, Peiquan, Zhu, Xianjun, Ding, Xiaoyan, Yang, Zhenglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9431724/
https://www.ncbi.nlm.nih.gov/pubmed/35700046
http://dx.doi.org/10.1172/jci.insight.158428

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9431724/
https://www.ncbi.nlm.nih.gov/pubmed/35700046
http://dx.doi.org/10.1172/jci.insight.158428

Ejemplares similares