{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:07:46Z","timestamp":1792188466228,"version":"4.4.0"},"reference-count":59,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["216362\/Z\/19\/Z"],"award-info":[{"award-number":["216362\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["209328\/Z\/17\/Z"],"award-info":[{"award-number":["209328\/Z\/17\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019256","name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019256","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, &amp;lt;25 years) is important, but defining variant pathogenicity is challenging.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aimed to elucidate the genetic architecture of EO-POI in a unique, large cohort. Young women with EO-POI (n = 149; n = 31 familial, n = 118 sporadic) attending a specialist reproductive unit were included. Exome sequencing was performed. After filtering, variants were retained that were: (1) rare\/novel (minor allele frequency &amp;lt;0.01%); (2) predicted pathogenic\/likely pathogenic; and (3) enriched in the cohort. Each variant was assigned to a category: Category 1, variants in Genomics England Primary Ovarian Insufficiency PanelApp genes (n = 69); Category 2, variants in other POI-associated genes (n = 355) or Category 1 variants following unexpected inheritance patterns; and Category 3, homozygous variants in novel candidate POI genes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 127 Category 1 or 2 variants were identified in 74 different genes (heterozygous 30.9%; homozygous 9.4%; polygenic 21.8%). In familial EO-POI, 64.7% (11\/17 kindred) had a Category 1 or 2 variant identified (homozygous: STAG3, MCM9, PSMC3IP, YTHDC2, ZSWIM7; heterozygous: POLR2C, NLRP11, IGSF10, PRKD1, PLEC; polygenic: PDE3A, POLR2H, MSH6, CLPP). In sporadic EO-POI, 63.6% (n = 75\/118) women had a variant identified: 21.2% (n = 25) Category 1; 42.4% (n = 50) Category 2. Novel POI candidate genes (Category 3) included PCIF1, DND1, MEF2A, MMS22L, RXFP3, C4orf33, and ARRB1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The genetic basis of EO-POI is complex and affected genes span ovarian developmental processes from fetal life to adulthood. Establishing the pathogenicity of individual heterozygous variants can be challenging. However, some women have clear monogenic causes, particularly in familial POI with autosomal recessive inheritance. Others have potential polygenic causes. We describe novel candidate POI genes warranting further exploration.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf124","type":"journal-article","created":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T13:16:46Z","timestamp":1740489406000},"page":"3142-3154","source":"Crossref","is-referenced-by-count":8,"title":["A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4289-0852","authenticated-orcid":false,"given":"Sin\u00e9ad M","family":"McGlacken-Byrne","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]},{"name":"Institute for Women's Health, University College London , London WC1E 6AU ,","place":["UK"]},{"name":"Department of Paediatric Endocrinology, Great Ormond Street Hospital , London WC1N 3JH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenifer P","family":"Suntharalingham","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4769-2273","authenticated-orcid":false,"given":"Miho","family":"Ishida","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8274-7241","authenticated-orcid":false,"given":"Federica","family":"Buonocore","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"del Valle","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoinette","family":"Cameron-Pimblett","sequence":"additional","affiliation":[{"name":"Institute for Women's Health, University College London , London WC1E 6AU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul T","family":"Dattani","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]},{"name":"Department of Paediatric Endocrinology, Great Ormond Street Hospital , London WC1N 3JH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8787-6272","authenticated-orcid":false,"given":"John C","family":"Achermann","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6122-9325","authenticated-orcid":false,"given":"Gerard S","family":"Conway","sequence":"additional","affiliation":[{"name":"Institute for Women's Health, University College London , London WC1E 6AU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"issue":"4-5","key":"2025101519585583900_dgaf124-B1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.autrev.2014.01.003","article-title":"Autoimmune primary ovarian insufficiency","volume":"13","author":"Silva","year":"2014","journal-title":"Autoimmun Rev"},{"issue":"2","key":"2025101519585583900_dgaf124-B2","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/humupd\/dmy002","article-title":"The importance of DNA repair for maintaining oocyte quality in response to anti-cancer treatments, environmental toxins and maternal ageing","volume":"24","author":"Winship","year":"2018","journal-title":"Hum Reprod Update"},{"issue":"10","key":"2025101519585583900_dgaf124-B3","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1093\/humrep\/14.10.2455","article-title":"Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?","volume":"14","author":"van Kasteren","year":"1999","journal-title":"Hum Reprod"},{"issue":"8","key":"2025101519585583900_dgaf124-B4","doi-asserted-by":"crossref","first-page":"3049","DOI":"10.1210\/jc.2019-00248","article-title":"Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease","volume":"104","author":"Jolly","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"2025101519585583900_dgaf124-B5","doi-asserted-by":"crossref","first-page":"bvab032","DOI":"10.1210\/jendso\/bvab032","article-title":"Next generation sequencing should be proposed to every woman with \u2018idiopathic\u2019 primary ovarian insufficiency","volume":"5","author":"Eskenazi","year":"2021","journal-title":"J Endocr Soc"},{"issue":"4","key":"2025101519585583900_dgaf124-B6","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.fertnstert.2021.12.023","article-title":"Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families","volume":"117","author":"Rouen","year":"2022","journal-title":"Fertil Steril"},{"issue":"1","key":"2025101519585583900_dgaf124-B7","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s12920-020-00813-x","article-title":"Identification of potential causal variants for premature ovarian failure by whole exome sequencing","volume":"13","author":"Jin","year":"2020","journal-title":"BMC Med Genomics"},{"issue":"10","key":"2025101519585583900_dgaf124-B8","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1007\/s10815-020-01919-y","article-title":"Novel variants in women with premature ovarian function decline identified via whole-exome sequencing","volume":"37","author":"Tang","year":"2020","journal-title":"J Assist Reprod Genet"},{"issue":"7","key":"2025101519585583900_dgaf124-B9","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1093\/humrep\/dex089","article-title":"New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing","volume":"32","author":"Pati\u00f1o","year":"2017","journal-title":"Hum Reprod"},{"issue":"11","key":"2025101519585583900_dgaf124-B10","doi-asserted-by":"crossref","first-page":"2595","DOI":"10.1007\/s10815-022-02629-3","article-title":"Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing","volume":"39","author":"Morales","year":"2022","journal-title":"J Assist Reprod Genet"},{"issue":"1","key":"2025101519585583900_dgaf124-B11","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s13048-020-00716-6","article-title":"Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention","volume":"13","author":"Liu","year":"2020","journal-title":"J Ovarian Res"},{"issue":"3","key":"2025101519585583900_dgaf124-B12","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s10815-022-02408-0","article-title":"Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency","volume":"39","author":"Turkyilmaz","year":"2022","journal-title":"J Assist Reprod Genet"},{"issue":"11","key":"2025101519585583900_dgaf124-B13","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1093\/humrep\/deab192","article-title":"Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency","volume":"36","author":"Bestetti","year":"2021","journal-title":"Hum Reprod"},{"issue":"1","key":"2025101519585583900_dgaf124-B14","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s10815-018-1349-4","article-title":"Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency","volume":"36","author":"Yang","year":"2019","journal-title":"J Assist Reprod Genet"},{"issue":"29","key":"2025101519585583900_dgaf124-B15","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.2217\/fon-2018-0278","article-title":"The national physicians cooperative: transforming fertility management in the cancer setting and beyond","volume":"14","author":"Smith","year":"2018","journal-title":"Future Oncol"},{"issue":"4","key":"2025101519585583900_dgaf124-B16","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1097\/MOP.0000000000000236","article-title":"Update on primary ovarian insufficiency in adolescents","volume":"27","author":"Gordon","year":"2015","journal-title":"Curr Opin Pediatr"},{"key":"2025101519585583900_dgaf124-B17","first-page":"2015","article-title":"Primary ovarian insufficiency in adolescents: a case series","volume":"13","author":"Pederson","year":"2015","journal-title":"Int J Pediatr Endocrinol"},{"issue":"9","key":"2025101519585583900_dgaf124-B18","doi-asserted-by":"crossref","first-page":"bvac108","DOI":"10.1210\/jendso\/bvac108","article-title":"Management of a girl with delayed puberty and elevated gonadotropins","volume":"6","author":"McGlacken-Byrne","year":"2022","journal-title":"J Endocr Soc"},{"issue":"2","key":"2025101519585583900_dgaf124-B19","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/s41591-022-02194-3","article-title":"Landscape of pathogenic mutations in premature ovarian insufficiency","volume":"29","author":"Ke","year":"2023","journal-title":"Nat Med"},{"issue":"5","key":"2025101519585583900_dgaf124-B20","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/humrep\/dew027","article-title":"ESHRE guideline: management of women with premature ovarian insufficiency","volume":"31","author":"European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI","year":"2016","journal-title":"Hum Reprod"},{"issue":"14","key":"2025101519585583900_dgaf124-B21","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"8","key":"2025101519585583900_dgaf124-B22","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1038\/ng.3036","article-title":"Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications","volume":"46","author":"Rimmer","year":"2014","journal-title":"Nat Genet"},{"issue":"D1","key":"2025101519585583900_dgaf124-B23","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2025101519585583900_dgaf124-B24"},{"issue":"13","key":"2025101519585583900_dgaf124-B25","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"2025101519585583900_dgaf124-B26","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/gim.2013.92","article-title":"ACMG clinical laboratory standards for next-generation sequencing","volume":"15","author":"Rehm","year":"2013","journal-title":"Genet Med"},{"issue":"2-3","key":"2025101519585583900_dgaf124-B27","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"key":"2025101519585583900_dgaf124-B28","unstructured":"McGlacken-Byrne S, Suntharalingham JP, Ishida M, et al \u00a0Data from: A tiered approach to exome sequencing analysis in early-onset Primary Ovarian Insufficiency. BioStudies \u00a02025. https:\/\/www.ebi.ac.uk\/biostudies, accession number S-BSST1822."},{"issue":"1","key":"2025101519585583900_dgaf124-B29","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J R Stat Soc Ser B (Methodol)"},{"issue":"1","key":"2025101519585583900_dgaf124-B30","doi-asserted-by":"crossref","first-page":"e254","DOI":"10.1210\/clinem\/dgab597","article-title":"ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency","volume":"107","author":"McGlacken-Byrne","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2025101519585583900_dgaf124-B31","doi-asserted-by":"crossref","first-page":"e154671","DOI":"10.1172\/jci.insight.154671","article-title":"Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency","volume":"7","author":"McGlacken-Byrne","year":"2022","journal-title":"JCI Insight"},{"issue":"3","key":"2025101519585583900_dgaf124-B32","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1210\/js.2016-1014","article-title":"POLR2C mutations are associated with primary ovarian insufficiency in women","volume":"1","author":"Moriwaki","year":"2017","journal-title":"J Endocr Soc"},{"key":"2025101519585583900_dgaf124-B33","doi-asserted-by":"crossref","first-page":"104246","DOI":"10.1016\/j.ebiom.2022.104246","article-title":"Genetic landscape of a large cohort of primary ovarian insufficiency: new genes and pathways and implications for personalized medicine","volume":"84","author":"Heddar","year":"2022","journal-title":"EBioMedicine"},{"key":"2025101519585583900_dgaf124-B34","doi-asserted-by":"crossref","first-page":"664645","DOI":"10.3389\/fendo.2021.664645","article-title":"Targeted next-generation sequencing indicates a frequent oligogenic involvement in primary ovarian insufficiency onset","volume":"12","author":"Rossetti","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"2025101519585583900_dgaf124-B35","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1210\/jc.2018-02485","article-title":"Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency","volume":"104","author":"Franca","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2025101519585583900_dgaf124-B36","doi-asserted-by":"crossref","first-page":"e3566","DOI":"10.1210\/clinem\/dgaa505","article-title":"Variants in homologous recombination genes EXO1 and RAD51 related with premature ovarian insufficiency","volume":"105","author":"Luo","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2025101519585583900_dgaf124-B37","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1007\/s00415-011-6285-5","article-title":"Perrault syndrome: further evidence for genetic heterogeneity","volume":"259","author":"Jenkinson","year":"2012","journal-title":"J Neurol"},{"issue":"2","key":"2025101519585583900_dgaf124-B38","first-page":"576","article-title":"MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency","volume":"102","author":"Desai","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2025101519585583900_dgaf124-B39","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1056\/NEJMoa1309635","article-title":"Mutant cohesin in premature ovarian failure","volume":"370","author":"Caburet","year":"2014","journal-title":"N Engl J Med"},{"issue":"7","key":"2025101519585583900_dgaf124-B40","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1038\/s41591-023-02405-5","article-title":"Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency","volume":"29","author":"Shekari","year":"2023","journal-title":"Nat Med"},{"issue":"1","key":"2025101519585583900_dgaf124-B41","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/s12935-023-03066-7","article-title":"PCIF1, the only methyltransferase of N6,2-O-dimethyladenosine","volume":"23","author":"Wu","year":"2023","journal-title":"Cancer Cell Int"},{"key":"2025101519585583900_dgaf124-B42","doi-asserted-by":"crossref","first-page":"884295","DOI":"10.3389\/fcell.2022.884295","article-title":"The role of m6A on female reproduction and fertility: from gonad development to ovarian aging","volume":"10","author":"Sun","year":"2022","journal-title":"Front Cell Dev Biol"},{"issue":"5","key":"2025101519585583900_dgaf124-B43","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1261\/rna.079192.122","article-title":"The catalytic-dead Pcif1 regulates gene expression and fertility in Drosophila","volume":"29","author":"Franco","year":"2023","journal-title":"RNA"},{"key":"2025101519585583900_dgaf124-B44","doi-asserted-by":"crossref","first-page":"1017302","DOI":"10.3389\/fgene.2022.1017302","article-title":"A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans","volume":"13","author":"Xie","year":"2022","journal-title":"Front Genet"},{"issue":"11","key":"2025101519585583900_dgaf124-B45","doi-asserted-by":"crossref","first-page":"110894","DOI":"10.1016\/j.celrep.2022.110894","article-title":"A cooperative mechanism of target RNA selection via germ-cell-specific RNA-binding proteins NANOS2 and DND1","volume":"39","author":"Hirano","year":"2022","journal-title":"Cell Rep"},{"issue":"7646","key":"2025101519585583900_dgaf124-B46","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/nature21690","article-title":"DND1 maintains germline stem cells via recruitment of the CCR4-NOT complex to target mRNAs","volume":"543","author":"Yamaji","year":"2017","journal-title":"Nature"},{"issue":"4","key":"2025101519585583900_dgaf124-B47","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/j.ajhg.2016.07.011","article-title":"Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans","volume":"99","author":"Vetrini","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2025101519585583900_dgaf124-B48","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1242\/dev.058271","article-title":"Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis","volume":"138","author":"Kamura","year":"2011","journal-title":"Development"},{"issue":"21","key":"2025101519585583900_dgaf124-B49","doi-asserted-by":"crossref","first-page":"11889","DOI":"10.1073\/pnas.96.21.11889","article-title":"Oogenic function of the myogenic factor D-MEF2: negative regulation of the decapentaplegic receptor gene thick veins","volume":"96","author":"Mantrova","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"2025101519585583900_dgaf124-B50","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1210\/me.2013-1407","article-title":"MEF2 is restricted to the male gonad and regulates expression of the orphan nuclear receptor NR4A1","volume":"28","author":"Daems","year":"2014","journal-title":"Mol Endocrinol"},{"key":"2025101519585583900_dgaf124-B51","first-page":"1222","article-title":"Rad51 is an accessory factor for dmc1-mediated joint molecule formation during meiosis","volume":"337","author":"Cloud","year":"2012","journal-title":"Science (1979)"},{"issue":"8","key":"2025101519585583900_dgaf124-B52","doi-asserted-by":"crossref","first-page":"4387","DOI":"10.3390\/ijms23084387","article-title":"The relaxin-3 receptor, RXFP3, is a modulator of aging-related disease","volume":"23","author":"Leysen","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2025101519585583900_dgaf124-B53","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.cbpa.2008.09.020","article-title":"Relaxin-3 and RXFP3 expression, and steroidogenic actions in the ovary of teleost fish","volume":"153","author":"Wilson","year":"2009","journal-title":"Comp Biochem Physiol A Mol Integr Physiol"},{"issue":"2","key":"2025101519585583900_dgaf124-B54","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/molehr\/gaq086","article-title":"Relaxin family peptides in the male reproductive system\u2013a critical appraisal","volume":"17","author":"Ivell","year":"2011","journal-title":"Mol Hum Reprod"},{"issue":"4","key":"2025101519585583900_dgaf124-B55","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1086\/303079","article-title":"Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy","volume":"67","author":"Maugeri","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2025101519585583900_dgaf124-B56","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.gim.2021.09.019","article-title":"Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency","volume":"24","author":"Akin","year":"2022","journal-title":"Genet Med"},{"issue":"1","key":"2025101519585583900_dgaf124-B57","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1038\/s41467-019-11045-8","article-title":"\u03b2-arrestin1\/YAP\/mutant p53 complexes orchestrate the endothelin A receptor signaling in high-grade serous ovarian cancer","volume":"10","author":"Tocci","year":"2019","journal-title":"Nat Commun"},{"issue":"2","key":"2025101519585583900_dgaf124-B58","first-page":"647","article-title":"Deficiency of Pdk1 contributes to primordial follicle activation via the upregulation of YAP expression and the pro-inflammatory response","volume":"45","author":"Gao","year":"2020","journal-title":"Int J Mol Med"},{"issue":"1","key":"2025101519585583900_dgaf124-B59","doi-asserted-by":"crossref","first-page":"5871","DOI":"10.1038\/s41467-022-33323-8","article-title":"BNC1 deficiency-triggered ferroptosis through the NF2-YAP pathway induces primary ovarian insufficiency","volume":"13","author":"Wang","year":"2022","journal-title":"Nat Commun"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgaf124\/62168332\/dgaf124.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/110\/11\/3142\/62168332\/dgaf124.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/110\/11\/3142\/62168332\/dgaf124.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T23:59:13Z","timestamp":1760572753000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/110\/11\/3142\/8042368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,25]]},"references-count":59,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,2,25]]},"published-print":{"date-parts":[[2025,10,16]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgaf124","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,11]]},"published":{"date-parts":[[2025,2,25]]}}}