Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice.

Autor: Wei Liu, Yue-Wen Wang, Huan Zhang, Xue-Feng Xie, Ao Ma, Zaman, Qumar, Javed, Abdul Rafay, Abbas, Tanveer, Shah, Wasim, Ahmad, Riaz, Da-Ren Zhao, Hui Ma, Zubair, Muhammad, Khan, Ranjha, Qing-Hua Shi
Předmět:
Zdroj: Zoological Research; 2022, Vol. 43 Issue 2, p225-228, 4p
Abstrakt: The article informs about Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice. Topics include annotate genetic variants from whole-exome sequencing (WES) data of a consanguineous Pakistani family comprised of two infertile men diagnosed with oligoasthenozoospermia; and pathogenic variant in patients using a mouse model is required to identify potentially pathogenic mutations in infertile patients.
Databáze: Complementary Index