Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.

@article{Miyamoto2011InsufficiencyOB,
  title={Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.},
  author={Tatsuo Miyamoto and Sean Porazinski and Huijia Wang and Antonia Borovina and Brian Ciruna and Atsushi Shimizu and Tadashi Kajii and Akira Kikuchi and Makoto Furutani-Seiki and Shinya Matsuura},
  journal={Human molecular genetics},
  year={2011},
  volume={20 10},
  pages={2058-70}
}
Budding uninhibited by benzimidazole-related 1 (BUBR1) is a central molecule of the spindle assembly checkpoint. Germline mutations in the budding uninhibited by benzimidazoles 1 homolog beta gene encoding BUBR1 cause premature chromatid separation (mosaic variegated aneuploidy) [PCS (MVA)] syndrome, which is characterized by constitutional aneuploidy and a high risk of childhood cancer. Patients with the syndrome often develop Dandy-Walker complex and polycystic kidneys; implying a critical… CONTINUE READING

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