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...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2025-11-01
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| Serie: | Human Genomics |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s40246-025-00849-z |
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