Primary ovarian insufficiency (WP5316)

Homo sapiens

Primary Ovarian Insufficiency pathway


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


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Homo sapiens



Pathway Ontology

regulatory pathway

Disease Ontology

primary ovarian insufficiency


Label Type Compact URI Comment
CYP19A1 GeneProduct ensembl:ENSG00000137869
BMP15 GeneProduct ensembl:ENSG00000130385
MCM9 GeneProduct ensembl:ENSG00000111877
TSHB GeneProduct ensembl:ENSG00000134200
BCKDHB GeneProduct ensembl:ENSG00000083123
ESR2 GeneProduct ensembl:ENSG00000140009
ACVR2B GeneProduct ensembl:ENSG00000114739
FOXO1 GeneProduct ensembl:ENSG00000150907
HSF2BP GeneProduct ensembl:ENSG00000160207
GAS5 GeneProduct ensembl:ENSG00000234741
RCBTB1 GeneProduct ensembl:ENSG00000136144
MIR22 GeneProduct ensembl:ENSG00000283824
ANTXR1 GeneProduct ensembl:ENSG00000169604
NOG GeneProduct ensembl:ENSG00000183691
CAV1 GeneProduct ensembl:ENSG00000105974
WNT4 GeneProduct ensembl:ENSG00000162552
AIRE GeneProduct ensembl:ENSG00000160224
PSMC3IP GeneProduct ensembl:ENSG00000131470
SPIDR GeneProduct ensembl:ENSG00000164808
AFF2 GeneProduct ensembl:ENSG00000155966
S1PR1 GeneProduct ensembl:ENSG00000170989
AKT1 GeneProduct ensembl:ENSG00000142208
SOHLH1 GeneProduct ensembl:ENSG00000165643
EIF4ENIF1 GeneProduct ensembl:ENSG00000184708
SIRT1 GeneProduct ensembl:ENSG00000096717
HELQ GeneProduct ensembl:ENSG00000163312
MMP2 GeneProduct ensembl:ENSG00000087245
CYP17A1 GeneProduct ensembl:ENSG00000148795
PCCB GeneProduct ensembl:ENSG00000114054
PTEN GeneProduct ensembl:ENSG00000171862
TG GeneProduct ensembl:ENSG00000042832
IL21 GeneProduct ensembl:ENSG00000138684
FANCL GeneProduct ensembl:ENSG00000115392
BMPR1A GeneProduct ensembl:ENSG00000107779
SOX8 GeneProduct ensembl:ENSG00000005513
PGRMC1 GeneProduct ensembl:ENSG00000101856
FIGLA GeneProduct ensembl:ENSG00000183733
GATA4 GeneProduct ensembl:ENSG00000136574
DIAPH2 GeneProduct ensembl:ENSG00000147202
LHX8 GeneProduct ensembl:ENSG00000162624
PTH2R GeneProduct ensembl:ENSG00000144407
SOHLH2 GeneProduct ensembl:ENSG00000120669
PRLR GeneProduct ensembl:ENSG00000113494
ACSL6 GeneProduct ensembl:ENSG00000164398
DMC1 GeneProduct ensembl:ENSG00000100206
EIF2S2 GeneProduct ensembl:ENSG00000125977
SIL1 GeneProduct ensembl:ENSG00000120725
XRCC4 GeneProduct ensembl:ENSG00000152422
FSHR GeneProduct ensembl:ENSG00000170820
MSH5 GeneProduct ensembl:ENSG00000204410
GPR3 GeneProduct ensembl:ENSG00000181773
CNTNAP2 GeneProduct ensembl:ENSG00000174469
BLM GeneProduct ensembl:ENSG00000197299
MSH4 GeneProduct ensembl:ENSG00000057468
LAMC1 GeneProduct ensembl:ENSG00000135862
NBN GeneProduct ensembl:ENSG00000104320
BMPR1B GeneProduct ensembl:ENSG00000138696
FMR1 GeneProduct ensembl:ENSG00000102081
NOBOX GeneProduct ensembl:ENSG00000106410
LMNA GeneProduct ensembl:ENSG00000160789
HLA-DRB1 GeneProduct ensembl:ENSG00000196126
ATG9A GeneProduct ensembl:ENSG00000198925
GNAS GeneProduct ensembl:ENSG00000087460
AMH GeneProduct ensembl:ENSG00000104899
COX10 GeneProduct ensembl:ENSG00000006695
KHDRBS1 GeneProduct ensembl:ENSG00000121774
WRN GeneProduct ensembl:ENSG00000165392
ESR1 GeneProduct ensembl:ENSG00000091831
FANCG GeneProduct ensembl:ENSG00000221829
PARP1 GeneProduct ensembl:ENSG00000143799
GALT GeneProduct ensembl:ENSG00000213930
HARS2 GeneProduct ensembl:ENSG00000112855
MND1 GeneProduct ensembl:ENSG00000121211
PCSK1 GeneProduct ensembl:ENSG00000175426
UBR2 GeneProduct ensembl:ENSG00000024048
EIF2B2 GeneProduct ensembl:ENSG00000119718
AMHR2 GeneProduct ensembl:ENSG00000135409
TGFBR3 GeneProduct ensembl:ENSG00000069702
TNF GeneProduct ensembl:ENSG00000232810
FOXO3 GeneProduct ensembl:ENSG00000118689
PDPK1 GeneProduct ensembl:ENSG00000140992
GDF9 GeneProduct ensembl:ENSG00000164404
CXCL12 GeneProduct ensembl:ENSG00000107562
NANOS3 GeneProduct ensembl:ENSG00000187556
AARS2 GeneProduct ensembl:ENSG00000124608
FANCC GeneProduct ensembl:ENSG00000158169
PREPL GeneProduct ensembl:ENSG00000138078
ERAL1 GeneProduct ensembl:ENSG00000132591
BMPR2 GeneProduct ensembl:ENSG00000204217
ATG7 GeneProduct ensembl:ENSG00000197548
MCM8 GeneProduct ensembl:ENSG00000125885
NR5A1 GeneProduct ensembl:ENSG00000136931
HSD17B4 GeneProduct ensembl:ENSG00000133835
DBH GeneProduct ensembl:ENSG00000123454
RAD51 GeneProduct ensembl:ENSG00000051180
EXO1 GeneProduct ensembl:ENSG00000174371
TSC2 GeneProduct ensembl:ENSG00000103197
FANCM GeneProduct ensembl:ENSG00000187790
ERCC6 GeneProduct ensembl:ENSG00000225830
OSR2 GeneProduct ensembl:ENSG00000164920
POLR3H GeneProduct ensembl:ENSG00000100413
KIT GeneProduct ensembl:ENSG00000157404
SERPINE1 GeneProduct ensembl:ENSG00000106366
ZP3 GeneProduct ensembl:ENSG00000188372
RPL10 GeneProduct ensembl:ENSG00000147403
HAX1 GeneProduct ensembl:ENSG00000143575
POU5F1 GeneProduct ensembl:ENSG00000204531
RECQL4 GeneProduct ensembl:ENSG00000160957
STAR GeneProduct ensembl:ENSG00000147465
DAZL GeneProduct ensembl:ENSG00000092345
ANKRD31 GeneProduct ensembl:ENSG00000145700
CLPP GeneProduct ensembl:ENSG00000125656
CYP7A1 GeneProduct ensembl:ENSG00000167910
WT1 GeneProduct ensembl:ENSG00000184937
EIF2B3 GeneProduct ensembl:ENSG00000070785
TP63 GeneProduct ensembl:ENSG00000073282
PMM2 GeneProduct ensembl:ENSG00000140650
BRCA1 GeneProduct ensembl:ENSG00000012048
PGR-AS1 GeneProduct ensembl:ENSG00000282728
LARS2 GeneProduct ensembl:ENSG00000011376
IL6 GeneProduct ensembl:ENSG00000136244
AGTR2 GeneProduct ensembl:ENSG00000180772
BDNF GeneProduct ensembl:ENSG00000176697
TRIM37 GeneProduct ensembl:ENSG00000108395
MEIOB GeneProduct ensembl:ENSG00000162039
WDR62 GeneProduct ensembl:ENSG00000075702
TWNK GeneProduct ensembl:ENSG00000107815
H3P23 GeneProduct ensembl:ENSG00000250705
PRDM1 GeneProduct ensembl:ENSG00000057657
BRCA2 GeneProduct ensembl:ENSG00000139618
INSL3 GeneProduct ensembl:ENSG00000248099
FOXL2 GeneProduct ensembl:ENSG00000183770
XRCC6 GeneProduct ensembl:ENSG00000196419
FANCA GeneProduct ensembl:ENSG00000187741
IL2 GeneProduct ensembl:ENSG00000109471
BNC1 GeneProduct ensembl:ENSG00000169594
HDX GeneProduct ensembl:ENSG00000165259
TGFBR2 GeneProduct ensembl:ENSG00000163513
MIR449B GeneProduct ensembl:ENSG00000207728
C14ORF39 GeneProduct ensembl:ENSG00000179008
IFI27 GeneProduct ensembl:ENSG00000165949
EIF2B5 GeneProduct ensembl:ENSG00000145191
XPO5 GeneProduct ensembl:ENSG00000124571
SYCE1 GeneProduct ensembl:ENSG00000171772
SALL4 GeneProduct ensembl:ENSG00000101115
XRCC2 GeneProduct ensembl:ENSG00000196584
TMEM150B GeneProduct ensembl:ENSG00000180061
ATM GeneProduct ensembl:ENSG00000149311
PCMT1 GeneProduct ensembl:ENSG00000120265
CBX2 GeneProduct ensembl:ENSG00000173894
PCCA GeneProduct ensembl:ENSG00000175198
NUP107 GeneProduct ensembl:ENSG00000111581
KDR GeneProduct ensembl:ENSG00000128052
COMT GeneProduct ensembl:ENSG00000093010
CPEB1 GeneProduct ensembl:ENSG00000214575
MRPS22 GeneProduct ensembl:ENSG00000175110
PRDM9 GeneProduct ensembl:ENSG00000164256
LHCGR GeneProduct ensembl:ENSG00000138039
BMP8B GeneProduct ensembl:ENSG00000116985
NOTCH2 GeneProduct ensembl:ENSG00000134250
DCAF17 GeneProduct ensembl:ENSG00000115827
HFM1 GeneProduct ensembl:ENSG00000162669
POLG GeneProduct ensembl:ENSG00000140521
SYCP2L GeneProduct ensembl:ENSG00000153157
STAG3 GeneProduct ensembl:ENSG00000066923
INHA GeneProduct ensembl:ENSG00000123999
POLR2C GeneProduct ensembl:ENSG00000102978
GJA4 GeneProduct ensembl:ENSG00000187513
FOXE1 GeneProduct ensembl:ENSG00000178919
SPATA22 GeneProduct ensembl:ENSG00000141255
EIF2B4 GeneProduct ensembl:ENSG00000115211
FSHB GeneProduct ensembl:ENSG00000131808
MGME1 GeneProduct ensembl:ENSG00000125871
SBP1 Protein uniprot:Q13228
STRA8 Protein uniprot:Q7Z7C7


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  2. Crohn’s disease. Clinical case. Carretta R, Bardelli M. G Clin Med. 1987 May;68(5):309–10. PubMed Europe PMC Scholia
  3. Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. Katsuya T, Horiuchi M, Minami S, Koike G, Santoro NF, Hsueh AJ, et al. Mol Cell Endocrinol. 1997 Mar 28;127(2):221–8. PubMed Europe PMC Scholia
  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
  5. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Fertil Steril. 2004 Apr;81(4):1137–9. PubMed Europe PMC Scholia
  6. Premature menopause in patients with BRCA1 gene mutation. Rzepka-Górska I, Tarnowski B, Chudecka-Głaz A, Górski B, Zielińska D, Tołoczko-Grabarek A. Breast Cancer Res Treat. 2006 Nov;100(1):59–63. PubMed Europe PMC Scholia
  7. Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. Watkins WJ, Umbers AJ, Woad KJ, Harris SE, Winship IM, Gersak K, et al. Fertil Steril. 2006 Nov;86(5):1518–21. PubMed Europe PMC Scholia
  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
  9. Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study. Massad-Costa AM, da Silva IDCG, Affonso R, Soares JM Jr, Nunes MG, de Lima GR, et al. Maturitas. 2007 Aug 20;57(4):399–404. PubMed Europe PMC Scholia
  10. Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure. Kang H, Lee SK, Kim MH, Choi H, Lee SH, Kwack K. Fertil Steril. 2009 Apr;91(4 Suppl):1339–43. PubMed Europe PMC Scholia
  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
  18. Haplotype analysis of chemokine CXCL12 polymorphisms and susceptibility to premature ovarian failure in Chinese women. Wang B, Suo P, Chen B, Wei Z, Yang L, Zhou S, et al. Hum Reprod. 2011 Apr;26(4):950–4. PubMed Europe PMC Scholia
  19. Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure. Qin C rong, Chen S ling, Yao J long, Li T, Wu W qing. Gynecol Endocrinol. 2012 Jan;28(1):63–7. PubMed Europe PMC Scholia
  20. FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure. Qin C rong, Yao J long, Zhu W jie, Wu W qing, Xie J sheng. Reprod Biol Endocrinol. 2011 Dec 16;9:158. PubMed Europe PMC Scholia
  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
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  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
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  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
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  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
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  48. Role of mTOR Signaling in Female Reproduction. Guo Z, Yu Q. Front Endocrinol (Lausanne). 2019 Oct 9;10:692. PubMed Europe PMC Scholia
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  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