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KIF11 variants in familial exudative vitreoretinopathy leading to mTORC1 overactivation and impaired cell cycle progression

Abstract Background This study aimed to identify potentially pathogenic variants in the KIF11 gene in patients with Familial Exudative Vitreoretinopathy (FEVR) and to evaluate their impact on KIF11 function and associated cellular mechanisms. Methods Three unrelated families diagnosed with FEVR were...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Min Liu, Shengliu Pan, Erkuan Dai, Rulian Zhao
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2025-11-01
Schriftenreihe:Human Genomics
Schlagworte:
Familial exudative vitreoretinopathy
KIF11 gene
mTORC1
Oxidative stress
Cell cycle
Online-Zugang:https://doi.org/10.1186/s40246-025-00849-z
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