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Author

Ai-Jie Xin

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Review Aug 2026

Biallelic FSIP2 variants are associated with sperm defective chromatin condensation beyond MMAF and acrosomal abnormalities.

An expansion of the genotypic and phenotypic spectrum of FSIP2-associated male infertility is suggested, although further studies are needed to establish whether these nuclear features represent a direct consequence of FSIP2 deficiency.

Jun-Yan Chen, Yi-Si Sun, Tong Zhou et al. · 0 citations
Aug 2026

A Homozygous NUP210L Variant Is Associated With Severe Defects in Human Spermiogenesis.

The findings support a role for NUP210L in human spermiogenesis that is not fully recapitulated in murine models and provide human-based evidence that nucleoporin dysfunction contributes to male infertility.

Yi-Si Sun, Guo-Wu Chen, Yi-Ni Zhang et al. · 0 citations

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