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Your search keyword '"Lane, Andrew H."' showing total 2 results
Start Over Author "Lane, Andrew H." Topic genetic mutation
2 results on '"Lane, Andrew H."'

2. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Author

Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núñez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H., Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David R, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark A., Tolmie, John, Turnpenny, Peter D., Wright, Michael, and Douglas, Jenny

Subjects
GENETIC mutation, ANEUPLOIDY, CENTROSOMES, MICROTUBULES, CELL division
Abstract

Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division. [ABSTRACT FROM AUTHOR]

Published
2011
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