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Homozygous Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure

The SEPTIN12 gene has been associated with male infertility. Male Septin12 (+/−) chimera mice were infertile, supporting the prevailing view that SEPTIN12 haploinsufficiency causes male infertility. In this study, we identified a heterozygous mutation on SEPTIN12, c.72C>A (p.Cys24Ter) in the male...

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Detalles Bibliográficos
Autores principales: Chen, Haixia, Li, Peng, Du, Xiaoling, Zhao, Yiding, Wang, Lingling, Tian, Ye, Song, Xueru, Shuai, Ling, Bai, Xiaohong, Chen, Lingyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082362/
https://www.ncbi.nlm.nih.gov/pubmed/35547809
http://dx.doi.org/10.3389/fcell.2022.850052