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Article

GBF1 deficiency causes cataracts in human and mouse.

Human genetics - 1 Nov 2024

Jia Weimin, Zhang Chenming, Luo Yalin, Gao Jing, Yuan Chao, Zhang Dazhi, Zhou Xiaopei, Tan Yongyao, Wang Shuang, Chen Zhuo, Li Guigang, Zhang Xianqin

Abstract excerpt

Any opacification of the lens can be defined as cataracts, and lens epithelium cells play a crucial role in guaranteeing lens transparency by maintaining its homeostasis. Although several causative genes of congenital cataracts have been reported, the mechanisms underlying lens opacity remain unclear. In this study, a large family with congenital cataracts was collected and genetic analysis revealed a...

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PMID: 39110251
DOI: 10.1007/s00439-024-02697-8

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