The genetics of premature ovarian failure: current perspectives

References

• PerryJRBCorreTEskoTA genome-wide association study of early menopause and the combined impact of identified variantsHum Mol Genet20132271465147223307926
   PubMed Web of Science ®Google Scholar
• ShellingANPremature ovarian failureReproduction2010140563364120716613
   PubMed Web of Science ®Google Scholar
• BachelotARouxelAMassinNPhenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failureEur J Endocrinol200916117918719411303
   PubMed Web of Science ®Google Scholar
• QinYSunMYouLESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failureOrphanet J Rare Dis20127522248077
   PubMed Web of Science ®Google Scholar
• YangJChoLLimYEstrogen receptor-1 genetic polymorphisms for the risk of premature ovarian failure and early menopauseJ Women’s Health2010192297304
   Web of Science ®Google Scholar
• WoadKJWatkinsWJPrendergastDShellingANThe genetic basis of premature ovarian failureAust N Z J Obstet Gynecol2006463242244
   Web of Science ®Google Scholar
• CordtsEChristofoliniDAmaro dos SantosABiancoBBarbosaCGenetic aspects of premature ovarian failure: a literature reviewArch Gynecol Obstet201128363564321188402
   PubMed Web of Science ®Google Scholar
• HeCKraftPChenCGenome-wide association studies identify loci associated with age at menarche and age at menopauseNat Genet200941672472819448621
   PubMed Web of Science ®Google Scholar
• StolkLGuangjuZvan MeursJLoci at chromosomes 13, 19 and 20 influence age at natural menopauseNature20094164564719194415
   PubMed Web of Science ®Google Scholar
• StolkLPerryJChasmanDMeta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathwaysNat Genet201244326026822267201
   PubMed Web of Science ®Google Scholar
• PuDXingYGaoYGuLWuJGene variation and premature ovarian failure: a meta-analysisEur J Obstet Gynecol Reprod Biol201418222623725445105
   PubMed Web of Science ®Google Scholar
• DixitHRaoLPadmalathaVGenes governing premature ovarian failureReprod Biomed Online20102072474020382564
   PubMed Web of Science ®Google Scholar
• ShellingANBurtonKAChandALInhibin: a candidate gene for premature ovarian failureHum Reprod200015122644264911098038
   PubMed Web of Science ®Google Scholar
• QinYJiaoXDalgleishRNovel variants in the SOHLH2 gene are implicated in human premature ovarian failureFertil Steril2014101411041109.e624524832
   PubMed Web of Science ®Google Scholar
• GoswamiDConwayGSPremature ovarian failureHum Reprod200511391410
   Web of Science ®Google Scholar
• BiancoBNunes LipayMVGuedesADVerreschiITClinical implications of the detection of the Y-chromosome mosaicism in Turner’s syndrome: report of 3 casesFertil Steril20089041197.e171197.e2018295215
   PubMed Web of Science ®Google Scholar
• VillanuevaALRebarRWTriple-X syndrome and premature ovarian failureObstet Gynecol1983623 Suppl70s73s6410314
   PubMed Web of Science ®Google Scholar
• ThermanELaxovaRSusmanBThe critical region on the human XqHum Genet1990854554612227929
   PubMed Web of Science ®Google Scholar
• Allingham-HawkinsDJBabul-HirjiRChitayatDFragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study–preliminary dataAm J Med Genet19998332232510208170
   PubMed Web of Science ®Google Scholar
• AllenEGSullivanAKMarcusMExamination of reproductive aging milestones among women who carry the FMR1 premuationHum Reprod2007222142215217588953
   PubMed Web of Science ®Google Scholar
• HergersbergMMatsuoKGassmannMTissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic miceHum Mol Genet199543593667795588
   PubMed Web of Science ®Google Scholar
• WoodMARajkovicAGenomic markers of ovarian reserveSemin Reprod Med20133139941524101221
   PubMed Web of Science ®Google Scholar
• VoorhuisMOnland-MoretNCJanseFThe significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiencyHum Reprod20142971585159324812319
   PubMed Web of Science ®Google Scholar
• ShellingANProgress in the study of genetic disease: bringing new light to complex problemsPostgrad Med J200985100850550719789186
   PubMed Web of Science ®Google Scholar
• HarrisSChandAWinshipIGersakKAittomakiKShellingAIdentification of novel mutations in FOXL2 associated with premature ovarian failureMol Hum Reprod2002872973312149404
   PubMed Web of Science ®Google Scholar
• QinYChoiYZhaoHSimpsonJLChenZJRajkovicANOBOX homeobox mutation causes premature ovarian failureAm J Hum Genet20078157658117701902
   PubMed Web of Science ®Google Scholar
• LourencoDBraunerRLinLMutations in NR5A1 associated with ovarian insufficiencyN Engl J Med20093601200121019246354
   PubMed Web of Science ®Google Scholar
• PersaniLRossettiRCacciatoreCGenes involved in human premature ovarian failureJ Mol Endocrinol20104525727920668067
   PubMed Web of Science ®Google Scholar
• JeyasuriaPIkedaYJaminSPCell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal functionMol Endocrinol2004181610161915118069
   PubMed Web of Science ®Google Scholar
• BashambooAMcElreaveyKNR5A1/SF-1 and development and function of the ovaryAnn Endocrinol (Paris)20107117718220394914
   PubMed Web of Science ®Google Scholar
• RajkovicAPangasSABallowDSuzumoriNMatzukMMNOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expressionScience20043051157115915326356
   PubMed Web of Science ®Google Scholar
• ZhaoXXSuzumoriNYamaguchiMSuzumoriKMutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failureFertil Steril2005831843184415950662
   PubMed Web of Science ®Google Scholar
• QinYShiYZhaoYCarsonSASimpsonJLChenZJMutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failureFertil Steril2009911507150918930203
   PubMed Web of Science ®Google Scholar
• LiangLSoyalSMDeanJFIGalpha, a germ cell specific transcription factor involved in the coordinate expression of the zona pellucida genesDevelopment1997124493949479362457
   PubMed Web of Science ®Google Scholar
• ZhaoHChenZJQinYTranscription factor FIGLA is mutated in patients with premature ovarian failureAm J Hum Genet2008821342134818499083
   PubMed Web of Science ®Google Scholar
• CrisponiLDeianaMLoiAThe putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeNat Genet20042715916611175783
   PubMed Web of Science ®Google Scholar
• SchmidtDOvittCEAnlagKThe murine winged-helix transcription factor FOXL2 is required for granulosa cell differentiation and ovary maintenanceDevelopment200413193394214736745
   PubMed Web of Science ®Google Scholar
• ChoiYYuanDRajkovicAGerm cell-specific transcriptional regulator Sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expressionBiol Reprod20087961176118218753606
   PubMed Web of Science ®Google Scholar
• ZhaoHLiGDalgleishRTranscription factor SOHLH1 potentially associated with primary ovarian insufficiencyFertil Steril20151032548553.e525527234
   PubMed Web of Science ®Google Scholar
• HashimotoOMooreRKShimasakiSPosttranslational processing of mouse and human BMP-15: potential implication in the determination of ovulation quotaPNAS20051025426543115809424
   PubMed Web of Science ®Google Scholar
• DubeJLWangPElvinJLyonsKMCelesteAJMatzukMMThe bone morphogenetic protein 15 gene is X-linked and expressed in oocytesMol Endocrinol199812180918179849956
   PubMed Web of Science ®Google Scholar
• TiotiuDAlvaro MercadalBImbertRVariants of the BMP15 gene in a cohort of patients with premature ovarian failureHum Reprod20102561581158720364024
   PubMed Web of Science ®Google Scholar
• ChandALPonnampolamAHarrisSEWinshipIMShellingANMutational analysis of GDF9 and BMP15 as candidate genes in premature ovarian failureFertil Steril20068641009101217027369
   PubMed Web of Science ®Google Scholar
• Di PasqualeERossettiRMarozziAIdentification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failureJ Clin Endocrinol Metab20069151976197916464940
   PubMed Web of Science ®Google Scholar
• DixitHRaoLPadmalathaVMissence mutations in the BMP15 gene are associated with ovarian failureHum Genet2006119440841516508750
   PubMed Web of Science ®Google Scholar
• LaissuePChristin-MaitreSTourainePMutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failureEur J Endocrinol2006154573974416645022
   PubMed Web of Science ®Google Scholar
• RossettiRDi PasqualeEMarozziABMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinHum Mutat200930580481019263482
   PubMed Web of Science ®Google Scholar
• TakebayashiKTakakuraKWangHKimuraFKasaharaKNodaYMutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndromeFertil Steril20007497697911056243
   PubMed Web of Science ®Google Scholar
• PersaniLRossettiRCacciatoreCFabreSGenetic defects of ovarian TGF-B-like factors and premature ovarian failureJ Endocrinol Invest20113424425121297384
   PubMed Web of Science ®Google Scholar
• DongJAlbertiniDFNishimoriKRajendra KumarTLuNMatzukMMGrowth differentiation factor is required during early ovarian folliculogenesisNature19963835315358849725
   PubMed Web of Science ®Google Scholar
• WangBWenQNiFZhouSWangJCaoYMaXAnalyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failureClin Endocrinol201072135136
   PubMed Web of Science ®Google Scholar
• RahHJeonYJKoJJAssociation of inhibin α gene promoter polymorphisms with risk of idiopathic primary ovarian insufficiency in Korean womenMaturitas201477216316724269065
   PubMed Web of Science ®Google Scholar
• RobertsonDMCahirNFindlayJKBurgerHGGroomeNBiological and immunological characterization of inhibin forms in human follicular fluid and plasmaJ Clin Endocrinol199782889896
   PubMed Web of Science ®Google Scholar
• DixitHDeendayalMSinghLMutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failureHum Reprod20041981760176415205401
   PubMed Web of Science ®Google Scholar
• MarozziAPortaCVegettiWMutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failureHum Reprod20021771741174512093833
   PubMed Web of Science ®Google Scholar
• ChandALHarrisonCAShellingANInhibin and premature ovarian failureHum Reprod Update2010161395019752047
   PubMed Web of Science ®Google Scholar
• CorreTSchuettlerJBioneSA large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failureHum Reprod20092482023202819363042
   PubMed Web of Science ®Google Scholar
• MohiyiddeenLNewmanWGMcBurneyHMulugetaBRobertsSANardoLGFollicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markersFertil Steril201297367768122265040
   PubMed Web of Science ®Google Scholar
• DiasJACohenBDLindau-ShepardBNechamenCAPetersonAJSchmidtAMolecular, structural, and cellular biology of follitropin and follitropin receptorVitam Horm20026424932211898394
   PubMed Web of Science ®Google Scholar
• AscoliMFanelliFSegaloffDLThe lutropin/choriogonadotropin receptor, a 2002 perspectiveEndocr Rev20022314117411943741
   PubMed Web of Science ®Google Scholar
• LaissuePEtiological coding sequence variants in non-syndromic premature ovarian failure: from genetic linkage analysis to next generation sequencingMol Cell Endocrinol201541124325725960166
   PubMed Web of Science ®Google Scholar
• AittomäkiKDieguez LucenaJPakarinenPMutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failureCell19958269599687553856
   PubMed Web of Science ®Google Scholar
• da Fonte KohekMBBatistaMCRussellAJNo evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failureFertil Steri199870565567
   Web of Science ®Google Scholar
• LaymanLCAmdeSCohenDPJinMXieJThe Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failureFertil Steril1998693003029496345
   PubMed Web of Science ®Google Scholar
• AbelMHWoottonANWilkinsVHuhtaniemiIKnightPGCharltonHMThe effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproductionEndocrinology20001411795180310803590
   PubMed Web of Science ®Google Scholar
• WoadKJPrendergastDWinshipIMShellingANFSH receptor gene variants are rarely associated with premature ovarian failureReprod Biomed Online201326439639923419799
   PubMed Web of Science ®Google Scholar
• LatronicoACChaiYArnholdIJLiuXMendoncaBBSegaloffDLA homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptorMol Endocrinol1998124424509514160
   PubMedGoogle Scholar
• LeeSKangDHudgins-SpiveySTheca-specific estrogen receptor-α knockout mice lose fertility prematurelyEndocrinology20091508
   Web of Science ®Google Scholar
• de MattosCSTrevisanCMPelusoCESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in brazilian womenJ Ovarian Res2014711425526766
   PubMed Web of Science ®Google Scholar
• M’RabetNMoffatRHelbingSKaechAZhangHde GeyterCThe CC-allee of the pvull polymorphic variant in intron 1 of the a-estrogen receptor gene is significanlty more prevalent amoung infertile woman at risk of premature agingFertil Steri2012984965972
   Web of Science ®Google Scholar
• DrummondAEFindlayJKThe role of estrogen in folliculogenesisMol Cell Endocrinol19991511–2576410411320
   PubMed Web of Science ®Google Scholar
• BretherickKLHannaCWCurrieLMFlukerMRHammondGLRobinsonWPEstrogen receptor α gene polymorphisms are associated with idiopathic premature ovarian failureFertil Steril200889231832417706202
   PubMed Web of Science ®Google Scholar
• CordtsESantosAPelusoCBiancoBBarbosaCChristofoliniDRisk of premature ovarian failure is associated with the PvuII polymorphism at estrogen receptor gene ESR1J Assist Reprod Genet2012291421142523150099
   PubMed Web of Science ®Google Scholar
• SilvaIVDias RezendeLCLanesSPEvaluation of PvuII and XbaI polymorphisms in the estrogen receptor alpha gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in postmenopausal womenMaturitas20106736336720884142
   PubMed Web of Science ®Google Scholar
• CorboRMUlizziLPiomboLMartinez-LabargaCDe StefanoGFScacchiREstrogen receptor alpha polymorphisms and fertility in populations with different reproductive patternsMol Hum Reprod200713853754017556378
   PubMed Web of Science ®Google Scholar
• HeCMurabitoJGenome-wide association studies of age at menarche and age at natural menopauseMol Cell Endocrinol201438276777922613007
   PubMed Web of Science ®Google Scholar
• StiglianiSAnseriniPNicolettiAJInsight into the genomics of premature ovarian failureMol Genet Med201373
   Google Scholar
• Christin-MaitreSTachdijanGGenome-wide association study and premature ovarian failureAnn Endocrinol201071218221
   PubMed Web of Science ®Google Scholar
• KangHLeeSKKimMHParathyroid hormone-responsive B1 gene is associated with premature ovarian failureHum Reprod2008231457146518349106
   PubMed Web of Science ®Google Scholar
• MukerjeeGDorfmanRHigh genetic heterogeneity of premature ovarian insufficiencyJ IHP20145863
   Google Scholar
• KnauffEAHFrankeLvan EsMAGenome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate geneHum Reprod20092492372237819508998
   PubMed Web of Science ®Google Scholar
• ChenCTLFernández-RhodesLBrzyskiRGReplication of loci influencing ages at menarche and menopause in hispanic women: the women’s health initiative SHARe studyHum Mol Genet20112161419143222131368
   PubMed Web of Science ®Google Scholar
• MurrayABennettCEPerryJRBCommon genetic variants are significant risk factors for early menopause: results from the breakthrough generations studyHum Mol Genet201120118619220952801
   PubMed Web of Science ®Google Scholar
• ShellingANFergusonLRGenetic variation in human disease and a new role for copy number variantsMutat Res20076221–2334117555771
   PubMed Web of Science ®Google Scholar
• KnauffEAHBlauwHMPearsonPLCopy number variants on the X chromosome in women with primary ovarian insufficiencyFertil Steril201195515841588.e121316664
   PubMed Web of Science ®Google Scholar
• AbouraADupasCTachdijanGArray comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failureJ Clin Endocrinl Metab2009941145404546
   Web of Science ®Google Scholar
• LedigSRopkeAWieackerPCopy number variants in premature ovarian failure and ovarian dysgenesisSex Dev201044–522523220606390
   PubMed Web of Science ®Google Scholar
• McGuireMMBowdenWEngelNJAhnHWKovanciERajkovicAGenomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failureFertil Steril20119551595160021256485
   PubMed Web of Science ®Google Scholar
• BernsteinECaudyAAHammondSMHannonGJRole for a bidentate ribonuclease in the initiation step of RNA interferenceNature200140936336611201747
   PubMed Web of Science ®Google Scholar
• MurchisonEPSteinPXuanZCritical roles for Dicer in the female germlineGenes Dev20072168269317369401
   PubMed Web of Science ®Google Scholar
• YangXZhouYPengSDifferentially expressed plasma microR-NAs in premature ovarian failure patients and the potential regulatory function of mir-23a in granulosa cell apoptosisSoc Reprod Fertil2012144235244
   Web of Science ®Google Scholar
• DangYZhaoSQinYHanTLiWChenZMicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failureFertil Steril20151033802807.e125585503
   PubMed Web of Science ®Google Scholar
• FonsecaDJPatinoLCSuarezYCNext generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutationsFertil Steril2015104115416225989972
   PubMed Web of Science ®Google Scholar
• BieseckerLGGreenRCDiagnostic clinical genome and exome sequencingN Engl J Med20143702418242524941179
   PubMed Web of Science ®Google Scholar
• CaburetSArboledaVALlanoEMutant cohesin in premature ovarian failureN Engl J Med201437094394924597867
   PubMed Web of Science ®Google Scholar
• Wood-TrageserMAGurbuzFYatsenkoSAMCM9 mutations are associated with ovarian failure, short stature, and chromosomal instabilityAm J Hum Genet20149575476225480036
   PubMed Web of Science ®Google Scholar
• AlAsiriSBasitSWood-TrageserMAExome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instabilityJ Clin Invest2015125125826225437880
   PubMed Web of Science ®Google Scholar
• WangJZhangWJiangHWuBLMutations in HFM1 in recessive primary ovarian insufficiencyN Engl J Med201437097297424597873
   PubMed Web of Science ®Google Scholar
• DixitHRaoLKPadmalathaVMutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failureMenopause20051274975416278619
   PubMed Web of Science ®Google Scholar
• ZhaoHQinYKovanciEAnalyses of GDF9 mutation in 100 Chinese women with premature ovarian failureFertility and Sterility2007881474147617482612
   PubMed Web of Science ®Google Scholar