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• W4309435827 startingPage "1158" @default.
• W4309435827 abstract "The Moloney sarcoma oncogene (MOS) encodes a protein serine/threonine kinase and MOS is expressed at high levels in oocytes undergoing meiotic maturation. The MOS/MAPK pathway is normally required for the maintenance of microtubules and chromatin in a metaphasic state during the meiotic divisions. To determine the pathogenic genes in a female infertile patient due to large polar body oocytes, whole-exome sequencing was performed on the patient and available family members. We identified a novel homozygous missense mutation c.591T > G in MOS. Bioinformatics analysis showed that the mutation is harmful. These findings suggest that MOS mutation results in oocytes with a large polar body and poor embryonic development in patients. The MOS variant may regulate oocyte asymmetric division by MAPK/WAVE2/Arp2/3/actin signaling pathway. This will help to understand the comprehensive role of MOS in early human reproductive process and provide genetic markers for future genetic counseling for more individualized treatments." @default.
• W4309435827 created "2022-11-27" @default.
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• W4309435827 date "2022-11-20" @default.
• W4309435827 modified "2023-10-18" @default.
• W4309435827 title "<i>MOS</i> mutation causes female infertility with large polar body oocytes" @default.
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• W4309435827 doi "https://doi.org/10.1080/09513590.2022.2147158" @default.
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