Identification of pathogenic DNA variants in premature ovarian insufficiency

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No authors listed. Nat Med. 2023 Feb.

. 2023 Feb;29(2):315-316.

doi: 10.1038/s41591-022-02196-1.

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Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, Luo W, Xu B, Zhao S, Li G, Zhang X, Xu S, Wang L, Wu Y, Wang J, Zhang F, Qin Y, Jin L, Chen ZJ. Ke H, et al. Nat Med. 2023 Feb;29(2):483-492. doi: 10.1038/s41591-022-02194-3. Epub 2023 Feb 2. Nat Med. 2023. PMID: 36732629 Free PMC article.

1. Golezar, S. et al. The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis. Climacteric 22, 403–411 (2019). This paper estimates the global prevalence of POI. - DOI - PubMed
1. Jiao, X., Ke, H., Qin, Y. & Chen, Z. J. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol. Metab. 29, 795–807 (2018). A review article that summarizes recent progress in characterizing the genetic etiology of POI and future perspectives. - DOI - PubMed
1. Gorsi, B. et al. Causal and candidate gene variants in a large cohort of women with primary ovarian insufficiency. J. Clin. Endocrinol. Metab. 107, 685–714 (2022). This paper reports the results of WES from 291 patients with POI. - DOI - PubMed
1. Hao, M. et al. The HuaBiao project: whole-exome sequencing of 5,000 Han Chinese individuals. J. Genet. Genomics 48, 1032–1035 (2021). This paper provides an overview of exome sequencing data from 5,000 individuals, who comprised the control cohort in our study. - DOI - PubMed
1. Ruth, K. S. et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596, 393–397 (2021). This paper is the largest published genome-wide association study on age at natural menopause. - DOI - PubMed - PMC