Primary ovarian insufficiency (Homo sapiens)

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MSH2SWI5ELAVL2CCDC150PRDM1CENPELHX8SOHLH2PPM1BANTXR1FMR1RFWD3MLH1KASH5SHOC1MGME1HMMRCCDC185LIG4CYP17A1BMP6FANCAMST1RSTARXPNPEP2 SPATA33MCMDC2STRA8MEIOSINHROBDAZLFANCGALOX12EIF2B1ZAR1PREPLH1-8NLRP11POF1BXRCC4HELQSLX4 FANCCLGR4ARGATA4NUP43HSD17B1ZP3SGO2PRORP4262826284284264392818282842628262626262826132626441028522626282628192643426182626331328426CYP19A1BMP1528MCM92828ESR24RCBTB128CAV14AIREPSMC3IP28SPIDR2828SOHLH1EIF4ENIF1284PCCB4BMPR1ASOX828PGRMC1428FIGLA28DIAPH228DMC128SIL14FSHR28MSH528GPR334BLMMSH428LAMC128NBN12BMPR1B2828NOBOXLMNA2828ATG9AGNAS28AMH284KHDRBS1WRN2828ESR128GALT28HARS228MND14EIF2B24AMHR2TGFBR32849GDF928NANOS328AARS228ERAL1BMPR228ATG72828MCM828NR5A128HSD17B428RAD51EXO11818FANCMERCC62828POLR3H28HAX14RECQL428CLPP28WT1EIF2B3424TP63PMM22828LARS228MEIOB28WDR62TWNK2828BRCA228FOXL228BNC128C14ORF3928EIF2B54SYCE128SALL4XRCC2428ATM28PCCA4NUP10728CPEB1MRPS222828NOTCH228DCAF17HFM128POLG28SYCP2L284STAG328POLR2C4EIF2B453


Description

Primary Ovarian Insufficiency pathway

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Bibliography

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  1. Liu H, Wei X, Sha Y, Liu W, Gao H, Lin J, Li Y, Tang Y, Wang Y, Wang Y, Su Z; ''Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention''; doi: 10.1186/s13048-020-00716-6, 2020 PubMed Europe PMC Scholia
  2. Eskenazi S, Bachelot A, Hugon-Rodin J, Plu-Bureau G, Gompel A, Catteau-Jonard S, Molina-Gomes D, Dewailly D, Dodé C, Christin-Maitre S, Touraine P; ''Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency''; doi: 10.1210/jendso/bvab032. PMID: 34095689, 2021 PubMed Europe PMC Scholia
  3. Massad-Costa AM, da Silva ID, Affonso R, Soares JM Jr, Nunes MG, de Lima GR, Baracat EC; ''Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study. Maturitas''; doi: 10.1016/j.maturitas.2007.04.005, 2007 PubMed Europe PMC Scholia
  4. Lili Cao #, Xinmiao He #, Jiayi Ren, Canxin Wen, Ting Guo, Fan Yang 9 10, Yingying Qin, Zi-Jiang Chen, Shidou Zhao, Yajuan Yang; ''Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency''; DOI: 10.1007/s00439-024-02650-9, 2024 PubMed Europe PMC Scholia
  5. França MM, Funari MFA, Lerario AM, Santos MG, Nishi MY, Domenice S, Moraes DR, Costalonga EF, Maciel GAR, Maciel-Guerra AT, Guerra-Junior G, Mendonca BB; ''Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency''; doi: 10.1371/journal.pone.0240795, 2020 PubMed Europe PMC Scholia
  6. Bachelot A, Bouilly J, Liu Y, Rebourcet D, Leux C, Kuttenn F, Touraine P, Binart N; ''Sequence variation analysis of the prolactin receptor C-terminal region in women with premature ovarian failure''; doi: 10.1016/j.fertnstert.2010.06.040, 2010 PubMed Europe PMC Scholia
  7. Czyzyk A, Filipowicz D, Podfigurna A, Ptas P, Piestrzynska M, Smolarczyk R, Genazzani AR, Meczekalski B; ''Brain-derived neurotrophic factor (BDNF) plasma concentration in patients diagnosed with premature ovarian insufficiency (POI)''; doi: 10.1080/09513590.2017.1290073, 2017 PubMed Europe PMC Scholia
  8. Zhang C, Shen J, Kong S, Zhang M, Zhang Q, Zhou J, Zhen X, Kang N, Jiang Y, Ding L, Sun H, Yan G; ''MicroRNA-181a promotes follicular granulosa cell apoptosis via sphingosine-1-phosphate receptor 1 expression downregulation†''; doi: 10.1093/biolre/ioz135, 2019 PubMed Europe PMC Scholia
  9. Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M; ''Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency''; DOI: 10.1016/j.tem.2018.03.010, 2018 PubMed Europe PMC Scholia
  10. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO; ''Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency''; doi: 10.1007/s42000-019-00134-4, 2019 PubMed Europe PMC Scholia
  11. Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, Al-Azzawi F, Chen ZJ; ''Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure''; doi: 10.1016/j.fertnstert.2014.01.001, 2014 PubMed Europe PMC Scholia
  12. Pyun JA, Cha DH, Kwack K; ''LAMC1 gene is associated with premature ovarian failure''; doi: 10.1016/j.maturitas.2012.01.011, 2012 PubMed Europe PMC Scholia
  13. Dang Y, Zhao S, Qin Y, Han T, Li W, Chen ZJ; ''MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure''; doi: 10.1016/j.fertnstert.2014.12.106, 2015 PubMed Europe PMC Scholia
  14. 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, Cavkaytar S, Nicolas-Bonne C, lloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M.; ''Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine''; doi: 10.1016/j.ebiom.2022.104246, 2022 PubMed Europe PMC Scholia
  15. Nelson LM, Kimzey LM, Merriam GR, Fleisher TA; ''Increased peripheral T lymphocyte activation in patients with karyotypically normal spontaneous premature ovarian failure''; doi: 10.1016/s0015-0282(16)54356-8, 1991 PubMed Europe PMC Scholia
  16. Luo W, Guo T, Li G, Liu R, Zhao S, Song M, Zhang L, Wang S, Chen ZJ, Qin Y; ''Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency.''; doi: 10.1210/clinem/dgaa505, 2020 PubMed Europe PMC Scholia
  17. Zhou Y, Qin Y, Qin Y, Xu B, Guo T, Ke H, Chen M, Zhang L, Han F, Li Y, Chen M, Behrens A, Wang Y, Xu Z, Chen ZJ, Gao F; ''Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans''; doi: 10.1371/journal.pgen.1007463, 2018 PubMed Europe PMC Scholia
  18. Pan H, Chen B, Wang J, Wang X, Hu P, Wu S, Liu Y, Xu Z, Zhang W, Wang B, Cao Y; ''The miR-449b polymorphism, rs10061133 A>G, is associated with premature ovarian insufficiency. Menopause''; doi: 10.1097/GME.0000000000000659, 2016 PubMed Europe PMC Scholia
  19. Caburet S, Todeschini AL, Petrillo C, Martini E, Farran ND, Legois B, Livera G, Younis JS, Shalev S, Veitia RA; ''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''; doi: 10.1016/j.ebiom.2019.03.075, 2019 PubMed Europe PMC Scholia
  20. 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; ''Landscape of pathogenic mutations in premature ovarian insufficiency''; doi: 10.1038/s41591-022-02194-3, 2023 PubMed Europe PMC Scholia
  21. Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M; ''Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder''; doi: 10.1093/humrep/dey103, 2018 PubMed Europe PMC Scholia
  22. Pyun JA, Kim S, Kwack K; ''Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure''; doi: 10.1097/GME.0000000000000285, 2015 PubMed Europe PMC Scholia
  23. Wang B, Suo P, Chen B, Wei Z, Yang L, Zhou S, Wang J, Cao Y, Ma X; '' Haplotype analysis of chemokine CXCL12 polymorphisms and susceptibility to premature ovarian failure in Chinese women''; doi: 10.1093/humrep/der001, 2011 PubMed Europe PMC Scholia
  24. Qin CR, Yao JL, Zhu WJ, Wu WQ, Xie JS; ''FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure''; doi: 10.1186/1477-7827-9-158, 2011 PubMed Europe PMC Scholia
  25. 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, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M.; ''''; ,
  26. Rzepka-Górska I, Tarnowski B, Chudecka-Głaz A, Górski B, Zielińska D, Tołoczko-Grabarek A; ''Premature menopause in patients with BRCA1 gene mutation''; doi: 10.1007/s10549-006-9220-1, 2006 PubMed Europe PMC Scholia
  27. Qi Y, Wang Y, Li W, Zhuang S, Li S, Xu K, Qin Y, Guo T; ''Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency''; doi: 10.1111/cge.14380, 2023 PubMed Europe PMC Scholia
  28. Wang B, Mu Y, Ni F, Zhou S, Wang J, Cao Y, Ma X; ''Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure''; doi: 10.1016/j.rbmo.2010.01.008, 2010 PubMed Europe PMC Scholia
  29. Yang Y, Guo T, Liu R, Ke H, Xu W, Zhao S, Qin Y; ''FANCL gene mutations in premature ovarian insufficiency''; doi: 10.1002/humu.23997, 2020 PubMed Europe PMC Scholia
  30. Kang H, Lee SK, Kim MH, Choi H, Lee SH, Kwack K; ''Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure''; doi: 10.1016/j.fertnstert.2008.03.035, 2009 PubMed Europe PMC Scholia
  31. Pyun JA, Kim S, Cha DH, Kwack K; ''Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure''; doi: 10.1097/GME.0000000000000172, 2014 PubMed Europe PMC Scholia
  32. Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB; ''Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome''; doi: 10.1111/cge.12867, 2017 PubMed Europe PMC Scholia
  33. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O; ''A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea''; doi: 10.1016/j.ejmg.2008.06.010, 2008 PubMed Europe PMC Scholia
  34. Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, Delea M, Belli S, Fernández CS, Buzzalino ND, Charreau EH, Dain LB; ''Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency''; doi: 10.3390/genes8080194, 2017 PubMed Europe PMC Scholia
  35. Ma X, Chen Y, Zhao X, Chen J, Shen C, Yang S; ''Association study of TGFBR2 and miR-518 gene polymorphisms with age at natural menopause, premature ovarian failure, and early menopause among Chinese Han women''; doi: 10.1097/MD.0000000000000093, 2014 PubMed Europe PMC Scholia
  36. Rehnitz J, Messmer B, Bender U, Nguyen XP, Germeyer A, Hinderhofer K, Strowitzki T, Capp E; ''Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression''; doi: 10.1186/s12958-022-00919-0, 2022 PubMed Europe PMC Scholia
  37. Arif S, Underhill JA, Donaldson P, Conway GS, Peakman M; ''Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure''; doi: 10.1210/jcem.84.3.5556, 1999 PubMed Europe PMC Scholia
  38. Bouazzi L, Sproll P, Eid W, Biason-Lauber A; ''The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach''; doi: 10.1038/s41598-019-53370-4, 2019 PubMed Europe PMC Scholia
  39. França MM, Mendonca BB; ''Genetics of ovarian insufficiency and defects of folliculogenesis''; doi: 10.1016/j.beem.2021.101594, 2022 PubMed Europe PMC Scholia
  40. Guo Z, Yu Q; ''Role of mTOR Signaling in Female Reproduction''; doi: 10.3389/fendo.2019.00692, 2019 PubMed Europe PMC Scholia
  41. Dang Y, Wang X, Hao Y, Zhang X, Zhao S, Ma J, Qin Y, Chen ZJ; ''MicroRNA-379-5p is associate with biochemical premature ovarian insufficiency through PARP1 and XRCC6''; doi: 10.1038/s41419-017-0163-8, 2018 PubMed Europe PMC Scholia
  42. Qin CR, Chen SL, Yao JL, Li T, Wu WQ; ''Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure''; doi: 10.3109/09513590.2011.583954, 2012 PubMed Europe PMC Scholia
  43. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO; ''Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency''; doi: 10.1007/s42000-019-00134-4, 2019 PubMed Europe PMC Scholia
  44. Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N; ''Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure''; doi: 10.1093/hmg/ddn274, 2008 PubMed Europe PMC Scholia
  45. Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, Dodé C, Bouligand J, Mantel AG, Hécart AC, Delemer B, Young J, Binart N; ''New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression''; doi: 10.1210/jc.2014-2761, 2015 PubMed Europe PMC Scholia
  46. Bai X, Wang S; ''Signaling pathway intervention in premature ovarian failure''; doi: 10.3389/fmed.2022.999440, 2022 PubMed Europe PMC Scholia
  47. Li B, Hu X, Yang Y, Zhu M, Zhang J, Wang Y, Pei X, Zhou H, Wu J; ''GAS5/miR-21 Axis as a Potential Target to Rescue ZCL-082-Induced Autophagy of Female Germline Stem Cells In Vitro''; doi: 10.1016/j.omtn.2019.06.012, 2019 PubMed Europe PMC Scholia
  48. Sun S, Chen H, Zheng X, Ma C, Yue R; ''Analysis on the level of IL-6, IL-21, AMH in patients with auto-immunity premature ovarian failure and study of correlation''; doi: 10.3892/etm.2018.6592, 2018 PubMed Europe PMC Scholia
  49. Watkins WJ, Umbers AJ, Woad KJ, Harris SE, Winship IM, Gersak K, Shelling AN; ''Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure''; doi: 10.1016/j.fertnstert.2006.03.054, 2006 PubMed Europe PMC Scholia
  50. Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia RA; ''Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2''; doi: 10.1136/jmg.2008.065086, 2009 PubMed Europe PMC Scholia
  51. Dov Tiosano, Jason A Mears, David A Buchner; ''Mitochondrial Dysfunction in Primary Ovarian Insufficiency''; https://doi.org/10.1210/en.2019-00441, 2019 PubMed Europe PMC Scholia
  52. Xu B, Li Z, Li S, Ke H, Zhang Q, Qin Y, Guo T; ''Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles''; doi: 10.1016/j.fertnstert.2022.08.853, 2022 PubMed Europe PMC Scholia
  53. Shao T, Ke H, Liu R, Zhao S, Qin Y; ''Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency''; doi: 10.1016/j.rbmo.2018.12.009, 2019 PubMed Europe PMC Scholia
  54. 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, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M; ''Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine''; doi: 10.1016/j.ebiom.2022.104246, 2022 PubMed Europe PMC Scholia

History

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134143view11:50, 4 July 2024VanessaSousa
129430view11:21, 19 April 2024VanessaSousa
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External references

DataNodes

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NameTypeDatabase referenceComment
AARS2 GeneProductENSG00000124608 (Ensembl)
AIRE GeneProductENSG00000160224 (Ensembl)
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ANTXR1GeneProduct
ARGeneProduct
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TGFBR3 GeneProductENSG00000069702 (Ensembl)
TP63 GeneProductENSG00000073282 (Ensembl)
TWNK GeneProductENSG00000107815 (Ensembl)
WDR62 GeneProductENSG00000075702 (Ensembl)
WRN GeneProductENSG00000165392 (Ensembl)
WT1 GeneProductENSG00000184937 (Ensembl)
XPNPEP2  GeneProductENSG00000122121 (Ensembl)
XRCC2GeneProductENSG00000196584 (Ensembl)
XRCC4 GeneProductENSG00000152422 (Ensembl)
ZAR1 GeneProductENSG00000182223 (Ensembl)
ZP3 GeneProductENSG00000188372 (Ensembl)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5461"
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