Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans

STUDY QUESTION: What are some pathogenic mutations for non-obstructive azoospermia (NOA) and their effects on spermatogenesis? SUMMARY ANSWER: Biallelic missense and frameshift mutations in ADAD2 disrupt the differentiation of round spermatids to spermatozoa causing azoospermia in humans and mice. W...

Descripción completa

Detalles Bibliográficos
Autores principales: Shi, Baolu, Shah, Wasim, Liu, Li, Gong, Chenjia, Zhou, Jianteng, Abbas, Tanveer, Ma, Hui, Zhang, Huan, Yang, Menglei, Zhang, Yuanwei, Ullah, Nadeem, Mahammad, Zubair, Khan, Mazhar, Murtaza, Ghulam, Ali, Asim, Khan, Ranjha, Sha, Jiahao, Yuan, Yan, Shi, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266965/
https://www.ncbi.nlm.nih.gov/pubmed/37325547
http://dx.doi.org/10.1093/hropen/hoad022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266965/
https://www.ncbi.nlm.nih.gov/pubmed/37325547
http://dx.doi.org/10.1093/hropen/hoad022

Ejemplares similares