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Article

Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.

Journal of assisted reproduction and genetics - 1 Jun 2022

Macaisne Nicolas, Touzon Maria Sol, Rajkovic Aleksander, Yanowitz Judith L

Abstract excerpt

PURPOSE: In women under the age of 40, primary ovarian insufficiency (POI) is a devastating diagnosis with significant prevalence of 1-4% (Rajkovic and Pangas, Semin Reprod Med. 35(3):231-40, 2017). POI is characterized by amenorrhea with elevated levels of follicle stimulating hormone (FSH) and reduced estrogen levels, mimicking the menopausal state. Genetic determinants account for just over 10% of POI cases,...

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Source

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Identifiers

PMID: 35437714
DOI: 10.1007/s10815-022-02494-0
PMCID: PMC9174368

Genes

MSH5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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