Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice

Multiple morphological abnormalities of the sperm flagella (MMAF) are the most severe form of asthenozoospermia due to impaired axoneme structure in sperm flagella. Dynein arms are necessary components of the sperm flagellar axoneme. In this study, we recruited 3 unrelated consanguineous Pakistani f...

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Detalles Bibliográficos
Autores principales: Ma, Ao, Zhou, Jianteng, Ali, Haider, Abbas, Tanveer, Ali, Imtiaz, Muhammad, Zubair, Dil, Sobia, Chen, Jing, Huang, Xiongheng, Ma, Hui, Zhao, Daren, Zhang, Beibei, Zhang, Yuanwei, Shah, Wasim, Shah, Basit, Murtaza, Ghulam, Iqbal, Furhan, Khan, Muzammil Ahmad, Khan, Asad, Li, Qing, Xu, Bo, Wu, Limin, Zhang, Huan, Shi, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977434/
https://www.ncbi.nlm.nih.gov/pubmed/36752199
http://dx.doi.org/10.1172/jci.insight.166869

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