Article

ZC3H11A mutations cause high myopia by triggering PI3K-AKT and NF-κB mediated signaling pathway in humans and mice

2023-08-30

Abstract excerpt

High myopia (HM) is a severe form of refractive error that results in irreversible visual impairment and even blindness. However, the genetic and pathological mechanisms underlying this condition are not yet fully understood. From a cohort of 1015 patients with high myopia in adolescents, likely pathogenic missense mutations were identified in the ZC3H11A gene in four patients by whole exome sequencing. This gene...

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Literature Corpus work: eb35af75-4903-5689-9b6d-5f2b6ec22848
DOI: 10.1101/2023.08.29.555422

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