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Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.

Human mutation - 1 Dec 2022

Tong Xiaomei, Jin Jiamin, Hu Zhanhong, Zhang Yingyi, Fan Heng-Yu, Zhang Yin-Li, Zhang Songying

Abstract excerpt

The subcortical maternal complex (SCMC), composed of several maternal-effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC-encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest. In this study, we enrolled 118 Chinese patients who experienced...

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Embryonic Development
HEK293 Cells
Infertility
Mitochondrial Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

RNA-Binding Proteins

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PMID: 35946397
DOI: 10.1002/humu.24448
PMCID: PMC10087254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.PMID 35946397Read ↗

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