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P53 independent pathogenic mechanisms contribute to BubR1 microcephaly

The mosaic variegated aneuploidy (MVA)-associated gene Budding Uninhibited by Benzimidazole 1B (BUB1B) encodes BUBR1, a core member of the spindle assembly checkpoint complex that ensures kinetochore-spindle attachment for faithful chromosome segregation. BUB1B mutation in humans and its deletion in...

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Detalles Bibliográficos
Autores principales: Sterling, Noelle A., Terry, Bethany K., McDonnell, Julia M., Kim, Seonhee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602889/
https://www.ncbi.nlm.nih.gov/pubmed/37900274
http://dx.doi.org/10.3389/fcell.2023.1282182