Article
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Journal of medical genetics - 1 Mar 2015
Waters Aoife M, Asfahani Rowan, Carroll Paula, Bicknell Louise, Lescai Francesco, Bright Alison, Chanudet Estelle, Brooks Anthony, Christou-Savina Sonja, Osman Guled, Walsh Patrick, Bacchelli Chiara, Chapgier Ariane, Vernay Bertrand, Bader David M, Deshpande Charu, O' Sullivan Mary, Ocaka Louise, Stanescu Horia, Stewart Helen S, Hildebrandt Friedhelm, Otto Edgar, Johnson Colin A, Szymanska Katarzyna, Katsanis Nicholas, Davis Erica, Kleta Robert, Hubank Mike, Doxsey Stephen, Jackson Andrew, Stupka Elia, Winey Mark, Beales Philip L
Abstract excerpt
BACKGROUND: Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutat...
Topics
- Animals
- Centrioles
- Chromosomal Proteins, Non-Histone
- Cilia
- Exome
- Female
- Fetus
- Genetics, Medical
- HEK293 Cells