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Article

ZAR1 pathogenic variants disrupt maternal mRNA storage and cause oocyte maturation defects in humans.

Cellular and molecular life sciences : CMLS - 20 Dec 2025

Liao Xiu-Quan, Zhao Shuai, Zhang Chang-Long, Zhu Yan, Wen Jun, Wang Yang, Liu Shao-Yuan, Su Wei, Zhang Jiang-Tao, Lu Qiong-Wen, Gong Fei, Lin Ge, Fan Heng-Yu, Zheng Wei, Zhao Han, Sha Qian-Qian

Abstract excerpt

Zygote arrest 1 (Zar1) was one of the earliest identified maternal-effect genes that function during the maternal-to-zygotic transition (MZT) in mice. However, the role of human ZAR1 remains unclear. In this study, we investigated the association of ZAR1 gene variants with infertility in women, focusing on their impact on oocyte maturation and early embryonic development. Using whole-exome sequencing, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41420714
DOI: 10.1007/s00018-025-06000-4
PMCID: PMC12799850

Genes

ZAR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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