Primary ovarian insufficiency (WP5316)

Homo sapiens

Authors

Vanessa Sousa , Eric Weitz , Susan Coort , Egon Willighagen , Alex Pico , Denise Slenter , Friederike Ehrhart , Aishwarya Iyer , and Lars Willighagen

Activity

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

regulatory pathway

Disease Ontology

primary ovarian insufficiency

References

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4. Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure. Arif S, Underhill JA, Donaldson P, Conway GS, Peakman M. J Clin Endocrinol Metab. 1999 Mar;84(3):1056–60. PubMed Europe PMC Scholia
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8. Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure. Kang H, Lee SK, Cho SW, Lee SH, Kwack K. Fertil Steril. 2008 Mar;89(3):728–31. PubMed Europe PMC Scholia
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11. Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure. Pyun JA, Kang H, Lee SK, Kim MH, Kwack K. Fertil Steril. 2009 Apr;91(4 Suppl):1362–5. PubMed Europe PMC Scholia
12. A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, et al. Eur J Med Genet. 2008;51(6):631–8. PubMed Europe PMC Scholia
13. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, et al. Hum Mol Genet. 2008 Dec 1;17(23):3776–83. PubMed Europe PMC Scholia
14. Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, et al. J Med Genet. 2009 Jul;46(7):455–7. PubMed Europe PMC Scholia
15. Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure. Wang B, Mu Y, Ni F, Zhou S, Wang J, Cao Y, et al. Reprod Biomed Online. 2010 Apr;20(4):499–503. PubMed Europe PMC Scholia
16. Sequence variation analysis of the prolactin receptor C-terminal region in women with premature ovarian failure. Bachelot A, Bouilly J, Liu Y, Rebourcet D, Leux C, Kuttenn F, et al. Fertil Steril. 2010 Dec;94(7):2772–5. PubMed Europe PMC Scholia
17. Thyroglobulin gene is associated with premature ovarian failure. Pyun JA, Kang H, Kim J, Cha DH, Kwack K. Fertil Steril. 2011 Jan;95(1):397–400. PubMed Europe PMC Scholia
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21. LAMC1 gene is associated with premature ovarian failure. Pyun JA, Cha DH, Kwack K. Maturitas. 2012 Apr;71(4):402–6. PubMed Europe PMC Scholia
22. Association between kinase insert domain-containing receptor polymorphisms (-604T>C, 1192G>A, 1719A>T) and premature ovarian failure in Korean women. Rah H, Jeon YJ, Choi Y, Shim SH, Ko JJ, Yoon TK, et al. Menopause. 2012 Sep;19(9):1037–42. PubMed Europe PMC Scholia
23. Tumor necrosis factor-alpha promoter polymorphisms are associated with idiopathic primary ovarian insufficiency in Korean women. Kim JH, Jeon YJ, Rah H, Lee BE, Choi DH, Lee WS, et al. Fertil Steril. 2012 Nov;98(5):1260-5.e1-2. PubMed Europe PMC Scholia
24. Disruption of HDX gene in premature ovarian failure. Okten G, Gunes S, Onat OE, Tukun A, Ozcelik T, Kocak I. Syst Biol Reprod Med. 2013 Aug;59(4):218–22. PubMed Europe PMC Scholia
25. Association of polymorphisms in microRNA machinery genes (DROSHA, DICER1, RAN, and XPO5) with risk of idiopathic primary ovarian insufficiency in Korean women. Rah H, Jeon YJ, Lee BE, Kim JO, Shim SH, Lee WS, et al. Menopause. 2013 Oct;20(10):1067–73. PubMed Europe PMC Scholia
26. Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency. Jeon YJ, Kim YR, Lee BE, Cha SH, Moon MJ, Oh D, et al. Fertil Steril. 2014 Mar;101(3):825–32. PubMed Europe PMC Scholia
27. Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure. Pyun JA, Kim S, Cha DH, Kwack K. Menopause. 2014 Aug;21(8):890–5. PubMed Europe PMC Scholia
28. Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure. Pyun JA, Kim S, Cha DH, Kwack K. Menopause. 2014 Nov;21(11):1249–53. PubMed Europe PMC Scholia
29. COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency. Cordts EB, Santos MC, Peluso C, Kayaki EA, Bianco B, Barbosa CP, et al. J Ovarian Res. 2014 May 2;7:47. PubMed Europe PMC Scholia
30. Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure. Pyun JA, Kim S, Kwack K. Menopause. 2015 Feb;22(2):212–6. PubMed Europe PMC Scholia
31. Association study of TGFBR2 and miR-518 gene polymorphisms with age at natural menopause, premature ovarian failure, and early menopause among Chinese Han women. Ma X, Chen Y, Zhao X, Chen J, Shen C, Yang S. Medicine (Baltimore). 2014 Oct;93(20):e93. PubMed Europe PMC Scholia
32. New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, et al. J Clin Endocrinol Metab. 2015 Mar;100(3):994–1001. PubMed Europe PMC Scholia
33. The miR-449b polymorphism, rs10061133 A>G, is associated with premature ovarian insufficiency. Pan H, Chen B, Wang J, Wang X, Hu P, Wu S, et al. Menopause. 2016 Sep;23(9):1009–11. PubMed Europe PMC Scholia
34. Selenium-Binding Protein 1 (SBP1) autoantibodies in ovarian disorders and ovarian cancer. Yu-Rice Y, Edassery SL, Urban N, Hellstrom I, Hellstrom KE, Deng Y, et al. Reproduction. 2017 Mar;153(3):277–84. PubMed Europe PMC Scholia
35. Brain-derived neurotrophic factor (BDNF) plasma concentration in patients diagnosed with premature ovarian insufficiency (POI). Czyzyk A, Filipowicz D, Podfigurna A, Ptas P, Piestrzynska M, Smolarczyk R, et al. Gynecol Endocrinol. 2017 May;33(5):413–7. PubMed Europe PMC Scholia
36. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, et al. Genes (Basel). 2017 Aug 16;8(8):194. PubMed Europe PMC Scholia
37. MicroRNA-379-5p is associate with biochemical premature ovarian insufficiency through PARP1 and XRCC6. Dang Y, Wang X, Hao Y, Zhang X, Zhao S, Ma J, et al. Cell Death Dis. 2018 Jan 24;9(2):106. PubMed Europe PMC Scholia
38. Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder. Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M. Hum Reprod. 2018 Jul 1;33(7):1254–61. PubMed Europe PMC Scholia
39. Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans. Zhou Y, Qin Y, Qin Y, Xu B, Guo T, Ke H, et al. PLoS Genet. 2018 Aug 13;14(8):e1007463. PubMed Europe PMC Scholia
40. Analysis on the level of IL-6, IL-21, AMH in patients with auto-immunity premature ovarian failure and study of correlation. Sun S, Chen H, Zheng X, Ma C, Yue R. Exp Ther Med. 2018 Oct;16(4):3395–8. PubMed Europe PMC Scholia
41. Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency. Shao T, Ke H, Liu R, Zhao S, Qin Y. Reprod Biomed Online. 2019 Mar;38(3):407–12. PubMed Europe PMC Scholia
42. A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks. Caburet S, Todeschini AL, Petrillo C, Martini E, Farran ND, Legois B, et al. EBioMedicine. 2019 Apr;42:524–31. PubMed Europe PMC Scholia
43. Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey. Oral E, Toksoy G, Sofiyeva N, Celik HG, Karaman B, Basaran S, et al. J Gynecol Obstet Hum Reprod. 2019 Dec;48(10):817–23. PubMed Europe PMC Scholia
44. Association of Serum Levels of Silent Information Regulator 1 with Persistent Organ Failure in Acute Pancreatitis. Chen J, Wan J, Shu W, Yang X, Xia L. Dig Dis Sci. 2019 Nov;64(11):3173–81. PubMed Europe PMC Scholia
45. GAS5/miR-21 Axis as a Potential Target to Rescue ZCL-082-Induced Autophagy of Female Germline Stem Cells In Vitro. Li B, Hu X, Yang Y, Zhu M, Zhang J, Wang Y, et al. Mol Ther Nucleic Acids. 2019 Sep 6;17:436–47. PubMed Europe PMC Scholia
46. MicroRNA-181a promotes follicular granulosa cell apoptosis via sphingosine-1-phosphate receptor 1 expression downregulation†. Zhang C, Shen J, Kong S, Zhang M, Zhang Q, Zhou J, et al. Biol Reprod. 2019 Nov 21;101(5):975–85. PubMed Europe PMC Scholia
47. Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO. Hormones (Athens). 2019 Dec;18(4):409–15. PubMed Europe PMC Scholia
48. Role of mTOR Signaling in Female Reproduction. Guo Z, Yu Q. Front Endocrinol (Lausanne). 2019 Oct 9;10:692. PubMed Europe PMC Scholia
49. The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach. Bouazzi L, Sproll P, Eid W, Biason-Lauber A. Sci Rep. 2019 Nov 19;9(1):17033. PubMed Europe PMC Scholia
50. Correction to: Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO. Hormones (Athens). 2019 Dec;18(4):537–8. PubMed Europe PMC Scholia
51. Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency. Luo W, Guo T, Li G, Liu R, Zhao S, Song M, et al. J Clin Endocrinol Metab. 2020 Oct 1;105(10):dgaa505. PubMed Europe PMC Scholia
52. Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention. Liu H, Wei X, Sha Y, Liu W, Gao H, Lin J, et al. J Ovarian Res. 2020 Sep 22;13(1):114. PubMed Europe PMC Scholia
53. Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency. Eskenazi S, Bachelot A, Hugon-Rodin J, Plu-Bureau G, Gompel A, Catteau-Jonard S, et al. J Endocr Soc. 2021 Mar 1;5(7):bvab032. PubMed Europe PMC Scholia
54. Genetics of ovarian insufficiency and defects of folliculogenesis. França MM, Mendonca BB. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101594. PubMed Europe PMC Scholia
55. Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression. Rehnitz J, Messmer B, Bender U, Nguyen XP, Germeyer A, Hinderhofer K, et al. Reprod Biol Endocrinol. 2022 Mar 5;20(1):44. PubMed Europe PMC Scholia
56. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, et al. EBioMedicine. 2022 Oct;84:104246. PubMed Europe PMC Scholia
57. Association study of ESR1 rs9340799, rs2234693, and MMP2 rs243865 variants in Iranian women with premature ovarian insufficiency: A case-control study. Sadat Eshaghi F, Dehghan Tezerjani M, Ghasemi N, Dehghani M. Int J Reprod Biomed. 2022 Nov 2;20(10):841–50. PubMed Europe PMC Scholia
58. Signaling pathway intervention in premature ovarian failure. Bai X, Wang S. Front Med (Lausanne). 2022 Nov 25;9:999440. PubMed Europe PMC Scholia
59. Landscape of pathogenic mutations in premature ovarian insufficiency. Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, et al. Nat Med. 2023 Feb;29(2):483–92. PubMed Europe PMC Scholia