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Article

Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.

Clinical genetics - 1 Dec 2021

Ma Cong, Wu Huan, Zhu Damin, Wang Ying, Shen Qunshan, Cheng Huiru, Zhang Junqiang, Geng Hao, Liu Yiyuan, He Xiaojin, Tao Fangbiao, Cao Yunxia, Xu Xiaofeng

Abstract excerpt

Reduced generation of multiple motile cilia (RGMC) and the consequent primary ciliary dyskinesia (PCD) cause infertility due to a substantial reduction in the number of multiciliated cells (MCCs) in the efferent ducts (EDs)/oviducts. MCIDAS acts upstream of CCNO to regulate the biogenesis of basal bodies (BBs); therefore, both genes play a vital role in the multiciliogenesis of the reproductive tract epithelium....

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PMID: 34569065
DOI: 10.1111/cge.14067

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