Loss-of-function mutations in CEP78 cause male infertility in humans and mice

Centrosomal protein dysfunction might cause ciliopathies. However, the role of centrosomal proteins in male infertility remains poorly defined. Here, we identified a pathogenic splicing mutation in CEP78 in male infertile patients with severely reduced sperm number and motility, and the typical mult...

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Detalles Bibliográficos
Autores principales: Zhang, Xueguang, Zheng, Rui, Liang, Chen, Liu, Haotian, Zhang, Xiaozhen, Ma, Yongyi, Liu, Mohan, Zhang, Wei, Yang, Yang, Liu, Man, Jiang, Chuan, Ren, Qingjia, Wang, Yan, Chen, Suren, Yang, Yihong, Shen, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544341/
https://www.ncbi.nlm.nih.gov/pubmed/36206347
http://dx.doi.org/10.1126/sciadv.abn0968

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