Article
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Cancer research - 15 Jun 2010
Suijkerbuijk Saskia J E, van Osch Maria H J, Bos Frank L, Hanks Sandra, Rahman Nazneen, Kops Geert J P L
Abstract excerpt
Genetic mutations in the mitotic regulatory kinase BUBR1 are associated with the cancer-susceptible disorder mosaic variegated aneuploidy (MVA). In patients with biallelic mutations, a missense mutation pairs with a truncating mutation. Here, we show that cell lines derived from MVA patients with...
Topics
- Abnormalities, Multiple
- Aneuploidy
- Blotting, Northern
- Chromosome Segregation
- Flow Cytometry
- Genes, cdc
- Genetic Predisposition to Disease
- HeLa Cells
- Humans
- Immunoblotting
- Mosaicism
- Mutation