Article

Mechanistic Analysis of NHS Mutation in Congenital Cataract via Patient-Derived hiPSC Model

2026-08-03

Abstract excerpt

<title>Abstract</title> <p>Purpose To clarify the functional role of Nance-Horan syndrome (NHS) gene in congenital cataract (CC) and its underlying pathogenic mechanism, focusing on lens epithelial cells (LECs) homeostasis. Methods NHS knockdown was performed in SRA01/04 human LECs, followed by transcriptomic, cytoskeletal, and functional analyses. Key downstream targets were validated via gain/loss-of-function...

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Literature Corpus work: a6668eb8-68d0-59a8-9f87-c7d33b414b41
DOI: 10.21203/rs.3.rs-9300845/v1

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