ArticleNature medicine2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Article in Nature medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
129 citing papers in PubMed, 2 syntheses or guidelines pooled it, 202 citations in OpenAlex.
- Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2026Pooled it
- Reduced ovarian reserve among female offspring of consanguineous marriages in the Middle East-a mini review.Frontiers in reproductive health · 2025Pooled it
- Gut virome dysbiosis contributes to premature ovarian insufficiency by modulating gut bacteriome.Gut microbes · 2026Article
- Wubie Fanchun Formula-inducible metabolites in primary ovarian insufficiency model mice that facilitate ovarian renovation.Pharmaceutical biology · 2026Article
- SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.Sexual medicine · 2026Article
- FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay.Annals of human genetics · 2026Article
- The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.Journal of human genetics · 2026Observational
- Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- From polygenic risk to functional genomics: a framework for precision gynecological disease modeling.Nature communications · 2026Review
- Germline predisposition and somatic mutational landscape in synchronous mucinous metaplasia and neoplasia of the female genital tract.Clinical and translational medicine · 2026Article
- The Therapeutic Potential of Stem Cell Therapy for Doxorubicin-Induced Cardiotoxicity: A Narrative Review.Health science reports · 2026Article
- Molecular genetics of meiotic initiation in mammals.Biology of reproduction · 2026Article
- Oocyte-specific knockout of eIF2B subunits causes apoptosis of mouse oocytes within the early growing follicles via DNA damage and mitochondrial dysfunction.Cell death & disease · 2026Article
- Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Spatial Transcriptomic Atlas Reveals That Forkhead Box O3-Mediated Mitochondrial Dynamics Imbalance Drives Premature Ovarian Insufficiency in Mice.Aging cell · 2026Article
- Non-syndromic premature ovarian insufficiency associated with monoallelic LIG4 mutation via haploinsufficiency.Journal of ovarian research · 2026Article
- Risk Factors for Idiopathic Premature Ovarian Insufficiency.Current medical science · 2026Review
- Two compound heterozygous MEIOSIN (likely) pathogenic variants cause female infertility with premature ovarian insufficiency through the disruption of meiosis-related gene transcription.Journal of ovarian research · 2026Article
- hAECs restore follicular development in premature ovarian insufficiency via IGFBP2/IGF1R-mediated intercellular communication.Stem cell research & therapy · 2026Article
- MCM8-9 helicase activity protects primordial germ cell development to prevent premature ovarian insufficiency.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
69 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases. Association analyses comparing the POI cohort with a control cohort of 5,000 individuals without POI identified 20 further POI-associated genes with a significantly higher burden of loss-of-function variants. Functional annotations of these novel 20 genes indicated their involvement in ovarian development and function, including gonadogenesis (LGR4 and PRDM1), meiosis (CPEB1, KASH5, MCMDC2, MEIOSIN, NUP43, RFWD3, SHOC1, SLX4 and STRA8) and folliculogenesis and ovulation (ALOX12, BMP6, H1-8, HMMR, HSD17B1, MST1R, PPM1B, ZAR1 and ZP3). Cumulatively, pathogenic and likely pathogenic variants in known POI-causative and novel POI-associated genes contributed to 242 (23.5%) cases. Further genotype-phenotype correlation analyses indicated that genetic contribution was higher in cases with primary amenorrhea compared to that in cases with secondary amenorrhea. This study expands understanding of the genetic landscape underlying POI and presents insights that have the potential to improve the utility of diagnostic genetic screenings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.