Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy.
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ABSTRACT:
SUBMITTER: Nguyen AL
PROVIDER: S-EPMC9915067 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Publications
Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy.
Nguyen Alexandra L AL Marin Diego D Zhou Anbo A Gentilello Amanda S AS Smoak Evan M EM Cao Zubing Z Fedick Anastasia A Wang Yujue Y Taylor Deanne D Scott Richard T RT Xing Jinchuan J Treff Nathan N Schindler Karen K
Molecular human reproduction 20170601 6
<h4>Study question</h4>Are single nucleotide variants (SNVs) in Aurora kinases B and C (AURKB, AURKC) associated with risk of aneuploid conception?<h4>Summary answer</h4>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 alignment.<h4>What is known already</h4>Maternal age does not always predict ...[more]
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