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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...
Autores principales: | Sterling, Noelle A., Terry, Bethany K., McDonnell, Julia M., Kim, Seonhee |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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 |
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