De Vos M, Devroey P, Fauser BC (2010) Primary ovarian insufficiency. Lancet 376(9744):911–921. https://doi.org/10.1016/S0140-6736(10)60355-8
Stuenkel CA, Gompel A (2023) Primary ovarian insufficiency. N Engl J Med 388(2):154–163. https://doi.org/10.1056/NEJMcp2116488
Welt CK (2008) Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 68(4):499–509. https://doi.org/10.1111/j.1365-2265.2007.03073.x
Chen M, Jiang H, Zhang C (2023) Selected genetic factors associated with primary ovarian insufficiency. Int J Mol Sci 24(5). https://doi.org/10.3390/ijms24054423
Chon SJ, Umair Z, Yoon MS (2021) Premature ovarian insufficiency: past, present, and future. Front Cell Dev Biol 9:672890. https://doi.org/10.3389/fcell.2021.672890
Article PubMed PubMed Central Google Scholar
Fortuno C, Labarta E (2014) Genetics of primary ovarian insufficiency: a review. J Assist Reprod Genet 31(12):1573–1585. https://doi.org/10.1007/s10815-014-0342-9
Article PubMed PubMed Central Google Scholar
Franca MM, Mendonca BB (2020) Genetics of primary ovarian insufficiency in the next-generation sequencing era. J Endocr Soc 4(2):bvz037. https://doi.org/10.1210/jendso/bvz037
Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, . . . Misrahi M (2022) Genetic landscape of a large cohort of primary ovarian insufficiency: new genes and pathways and implications for personalized medicine. EBioMedicine 84:104246. https://doi.org/10.1016/j.ebiom.2022.104246
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jaaskelainen T, Palvimo JJ, Robevska G, Launay E, Satie AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, . . . Sinclair AH (2020) New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing. Maturitas 141:9–19. https://doi.org/10.1016/j.maturitas.2020.06.004
Jiao X, Ke H, Qin Y, Chen ZJ (2018) Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab 29(11):795–807. https://doi.org/10.1016/j.tem.2018.07.002
Article CAS PubMed Google Scholar
Qin Y, Jiao X, Simpson JL, Chen ZJ (2015) Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update 21(6):787–808. https://doi.org/10.1093/humupd/dmv036
Article CAS PubMed PubMed Central Google Scholar
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 (2023) Landscape of pathogenic mutations in premature ovarian insufficiency. Nat Med 29(2):483–492. https://doi.org/10.1038/s41591-022-02194-3
Article CAS PubMed PubMed Central Google Scholar
Mirinezhad MR, Aghsizadeh M, Fazl Mashhadi M, Moazedi S, Mohammadi Bajgiran M, Ghazizadeh H, Yaghouti S, Mohammadian Ghosooni M, Mohammadi MA, Hasanzadeh E, Ebrahimi Dabagh A, Rastegarmoghadam Ebrahimian A, Akbarpour E, Esmaily H, Ferns GA, Hamzehloei T, Pasdar A, Ghayour-Mobarhan M (2024) Association between genetic variants linked to premature ovarian insufficiency and inflammatory markers: a cross-sectional study. Int J Fertil Steril 18(2):100–107. https://doi.org/10.22074/ijfs.2023.560209.1365
Article CAS PubMed PubMed Central Google Scholar
Patino LC, Beau I, Carlosama C, Buitrago JC, Gonzalez R, Suarez CF, Patarroyo MA, Delemer B, Young J, Binart N, Laissue P (2017) New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. Hum Reprod 32(7):1512–1520. https://doi.org/10.1093/humrep/dex089
Article CAS PubMed Google Scholar
Ruth KS, Murray A (2016) Lessons from genome-wide association studies in reproductive medicine: menopause. Semin Reprod Med 34(4):215–223. https://doi.org/10.1055/s-0036-1585404
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Morseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A (2023) Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med 29(7):1692–1699. https://doi.org/10.1038/s41591-023-02405-5
Article CAS PubMed Google Scholar
Aitman TJ, Boone C, Churchill GA, Hengartner MO, Mackay TF, Stemple DL (2011) The future of model organisms in human disease research. Nat Rev Genet 12(8):575–582. https://doi.org/10.1038/nrg3047
Article CAS PubMed Google Scholar
Kernohan KD, Boycott KM (2024) The expanding diagnostic toolbox for rare genetic diseases. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00683-w
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ, Members of the Undiagnosed Diseases N (2017) Model organisms facilitate rare disease diagnosis and therapeutic research. Genetics 207(1):9–27. https://doi.org/10.1534/genetics.117.203067
Article CAS PubMed PubMed Central Google Scholar
Yamamoto S, Kanca O, Wangler MF, Bellen HJ (2024) Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. Nat Rev Genet 25(1):46–60. https://doi.org/10.1038/s41576-023-00633-6
Article CAS PubMed Google Scholar
Link N, Bellen HJ (2020) Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases. Development 147(21). https://doi.org/10.1242/dev.191411
Ugur B, Chen K, Bellen HJ (2016) Drosophila tools and assays for the study of human diseases. Dis Model Mech 9(3):235–244. https://doi.org/10.1242/dmm.023762
Article CAS PubMed PubMed Central Google Scholar
Verheyen EM (2022) The power of Drosophila in modeling human disease mechanisms. Dis Model Mech 15(3). https://doi.org/10.1242/dmm.049549
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, . . . Tucker EJ (2023) Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. Hum Genet 142(7):879–907. https://doi.org/10.1007/s00439-023-02563-z
Bestetti I, Barbieri C, Sironi A, Specchia V, Yatsenko SA, De Donno MD, Caslini C, Gentilini D, Crippa M, Larizza L, Marozzi A, Rajkovic A, Toniolo D, Bozzetti MP, Finelli P (2021) Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency. Hum Reprod 36(11):2975–2991. https://doi.org/10.1093/humrep/deab192
Article CAS PubMed PubMed Central Google Scholar
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA (2018) Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27(11):1913–1926. https://doi.org/10.1093/hmg/ddy098
Article CAS PubMed PubMed Central Google Scholar
Johnstone EB, Gorsi B, Coelho E, Moore B, Farr AM, Cooper AR, Mardis ER, Rajkovic A, Chow CY, Yandell M, Welt CK (2023) DIS3 variants are associated with primary ovarian insufficiency: importance of transcription/translation in oogenesis. J Clin Endocrinol Metab 108(9):2330–2335. https://doi.org/10.1210/clinem/dgad126
Article PubMed PubMed Central Google Scholar
Armstrong AR (2020) Drosophila melanogaster as a model for nutrient regulation of ovarian function. Reproduction 159(2):R69–R82. https://doi.org/10.1530/REP-18-0593
Article CAS PubMed Google Scholar
Bastock R, St Johnston D (2008) Drosophila oogenesis. Curr Biol 18(23):R1082-1087. https://doi.org/10.1016/j.cub.2008.09.011
Article CAS PubMed Google Scholar
Doherty CA, Amargant F, Shvartsman SY, Duncan FE, Gavis ER (2022) Bidirectional communication in oogenesis: a dynamic conversation in mice and Drosophila. Trends Cell Biol 32(4):311–323. https://doi.org/10.1016/j.tcb.2021.11.005
Article CAS PubMed Google Scholar
Merkle JA, Wittes J, Schupbach T (2020) Signaling between somatic follicle cells and the germline patterns the egg and embryo of Drosophila. Curr Top Dev Biol 140:55–86. https://doi.org/10.1016/bs.ctdb.2019.10.004
Article CAS PubMed Google Scholar
Li R, Albertini DF (2013) The road to maturation: somatic cell interaction and self-organization of the mammalian oocyte. Nat Rev Mol Cell Biol 14(3):141–152. https://doi.org/10.1038/nrm3531
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