Novel bi-allelic variants in ACTL7A are associated with male infertility and total fertilization failure
ACTL7A 中的新型双等位基因变异与男性不育和完全受精失败有关
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作者：Jing Wang, Jintao Zhang, Xueping Sun, Yuting Lin, Lingbo Cai, Yugui Cui, Jiayin Liu, Mingxi Liu, Xiaoyu Yang
| 期刊： | Human Reproduction | 影响因子： | 6.000 |
| 时间： | 2021 | 起止号： | 2021 Nov 18;36(12):3161-3169. |
| doi： | 10.1093/humrep/deab228 | 研究方向： | 信号转导 |
Methods
Sanger sequencing was performed to validate the variants. Pathogenicity of the identified variants was predicted by in silico tools. The ultrastructure of spermatozoa was studied by transmission electron microscopy (TEM). Immunofluorescence staining and western blotting were used to investigate the mechanism of the variants on the affected spermatozoa. Main
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