Article
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
Journal of cellular and molecular medicine - 1 Sept 2021
Dong Shanshan, Tian Qi, Zhu Tengfei, Wang Kangli, Lei Ganting, Liu Yanling, Xiong Haofeng, Shen Lu, Wang Meng, Zhao Rongjuan, Wu Huidan, Li Bin, Zhang Qiumeng, Yao Yujun, Guo Hui, Xia Kun, Xia Lu, Hu Zhengmao
Abstract excerpt
High myopia is one of the leading causes of visual impairment worldwide with high heritability. We have previously identified the genetic contribution of SLC39A5 to nonsyndromic high myopia and demonstrated that disease-related mutations of SLC39A5 dysregulate the TGF-β pathway. In this study, the mechanisms underlying SLC39A5 involvement in the pathogenesis of high myopia are determined. We observed the...
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