Article
Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy.
Molecular human reproduction - 1 Jun 2017
Nguyen Alexandra L, Marin Diego, Zhou Anbo, Gentilello Amanda S, Smoak Evan M, Cao Zubing, Fedick Anastasia, Wang Yujue, Taylor Deanne, Scott Richard T, Xing Jinchuan, Treff Nathan, Schindler Karen
Abstract excerpt
STUDY QUESTION: Are single nucleotide variants (SNVs) in Aurora kinases B and C (AURKB, AURKC) associated with risk of aneuploid conception? SUMMARY ANSWER: Two SNVs were found in patients with extreme aneuploid concepti rates with respect to their age; one variant, AURKC p.I79V, is benign, while another, AURKB p.L39P, is a potential gain-of-function mutant with increased efficiency in promoting chromosome...
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