General Information of Disease (ID: DISWASB4)

Disease Name Female hypogonadism
Synonyms
hypergonadotrophic ovarian failure; hypergonadotropic hypogonadism; premature ovarian failure; primary female hypogonadism; premature ovarian insufficiency; hypergonadotropic hypogonadism (female); female hypergonadotropic hypogonadism; premature menopause; primary ovarian insufficiency; primary ovarian failure
Disease Class GA30: Menopausal disorder
Definition Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.
Disease Hierarchy
DIST09IB: Ovarian dysfunction
DISWASB4: Female hypogonadism
ICD Code
ICD-11
ICD-11: GA30.6
ICD-10
ICD-10: E28.3
Expand ICD-9
253256
Disease Identifiers
MONDO ID
MONDO_0005387
MESH ID
D016649
UMLS CUI
C0085215
MedGen ID
38820
HPO ID
HP:0000134
Orphanet ID
619
SNOMED CT ID
237788002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Ethinyl Estradiol DMODJ40 Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 22 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP2C19 TTZ58XG Limited Genetic Variation [2]
ESRRG TT9ZRHB Limited Biomarker [3]
HTR4 TT07C3Y Limited Biomarker [4]
ACVR2B TTLFRKS moderate Genetic Variation [5]
AGTR2 TTQVOEI moderate Genetic Variation [6]
BMPR2 TTGKF90 moderate Genetic Variation [7]
FANCA TTV5HJS moderate Genetic Variation [8]
FSHB TT13GFV moderate Genetic Variation [9]
GADD45B TTMDW9L moderate Altered Expression [10]
GJA4 TTQO1VY moderate Genetic Variation [11]
GPR3 TTHZVSK moderate Genetic Variation [12]
HAX1 TT21BYA moderate Genetic Variation [13]
HSD17B4 TTL1WGS moderate Genetic Variation [14]
ID2 TTW8A5N moderate Genetic Variation [15]
SENP1 TTW9HY5 moderate Genetic Variation [16]
TRIM37 TTAMCSL moderate Biomarker [17]
CYP19A1 TTSZLWK Strong Biomarker [18]
FANCF TTNZKFJ Strong Biomarker [19]
NFE2L2 TTA6ZN2 Strong Biomarker [20]
PGRMC1 TTY3LAZ Strong Biomarker [21]
WT1 TTZ8UT4 Strong Biomarker [22]
XPNPEP2 TTI9MBZ Strong Biomarker [23]
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⏷ Show the Full List of 22 DTT(s)
This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYB5A DE9A2LB moderate Genetic Variation [24]
CYP7A1 DEDZRQ1 moderate Genetic Variation [24]
PMM2 DEBRX3L moderate Genetic Variation [25]
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This Disease Is Related to 94 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABRAXAS1 OT1K4J80 Limited Genetic Variation [26]
AFM OTPOR8IO Limited Altered Expression [27]
ATG9A OTAZWZH7 Limited Genetic Variation [28]
BMPR1B OTGFN0OD Limited Biomarker [29]
CBX2 OTOQ5WS4 Limited Biomarker [30]
DDT OTF5HTYL Limited Biomarker [31]
DKKL1 OTWS7DED Limited Altered Expression [27]
HARS2 OTC8X3H9 Limited Genetic Variation [32]
MAP3K15 OT1E21HI Limited Biomarker [30]
MEIOB OTTX5TF0 Limited Genetic Variation [33]
NPAS4 OTA3HH6W Limited Genetic Variation [34]
RPA1 OT76POLP Limited Genetic Variation [33]
RPL10 OTBHOZGC Limited Biomarker [35]
SPATA22 OTBU7CWP Limited Genetic Variation [33]
SSB OTCCTPBR Limited Biomarker [33]
TGFBR3 OTQOOUC4 Limited Genetic Variation [36]
TLK1 OTICTXI8 Limited Biomarker [37]
TMEM150B OTFTD4WV Limited Genetic Variation [38]
AARS2 OTOB0KSG moderate Genetic Variation [39]
ACSL6 OT0TT8P8 moderate Genetic Variation [40]
ACTA1 OTOVGLPG moderate Genetic Variation [12]
ADAMTS16 OTTKUH99 moderate Genetic Variation [41]
AFF2 OTMF1PZW moderate Biomarker [42]
ATP6 OTPHOGLX moderate Genetic Variation [43]
BBS9 OT23V9YF moderate Biomarker [44]
BCKDHB OT8OSVYU moderate Genetic Variation [45]
CITED2 OT812TV7 moderate Genetic Variation [46]
CLDN2 OTRF3D6Y moderate Altered Expression [47]
CPEB1 OTLCXC6H moderate Biomarker [48]
DAZL OTZMTD4R moderate Altered Expression [49]
DLX5 OTEEFBEU moderate Biomarker [50]
DLX6 OT0FIJHY moderate Biomarker [50]
DMC1 OT1FHMW4 moderate Genetic Variation [51]
DNAH6 OTUZNWKV moderate Genetic Variation [52]
DROSHA OTCE68KZ moderate Genetic Variation [12]
EIF2B1 OT4NCVY1 moderate Biomarker [53]
EIF2B2 OTQQMHM1 moderate Biomarker [53]
EIF2B4 OTTM5SX1 moderate Biomarker [53]
EIF2S2 OTXF0B09 moderate Biomarker [53]
EIF4ENIF1 OTZWDB2X moderate Genetic Variation [54]
FANCM OTNJG99Z moderate Genetic Variation [55]
FIGLA OTARXZN8 moderate Biomarker [56]
FOXE1 OT5IR5IT moderate Genetic Variation [57]
FOXO4 OT90X9LN moderate Genetic Variation [58]
HACD1 OTEC7EP7 moderate Altered Expression [59]
HDX OTXD5MU6 moderate Posttranslational Modification [60]
INSL3 OT7KUNTE moderate Biomarker [61]
LAMC1 OTIG527N moderate Biomarker [62]
LHB OT5GBOVJ moderate Genetic Variation [63]
LHX8 OT0DFL7C moderate Genetic Variation [64]
MCM9 OTALGFW8 moderate Genetic Variation [65]
MSH5 OTDARQT3 moderate Genetic Variation [66]
NOG OTGRHHPG moderate Altered Expression [67]
OXA1L OTS0BFRD moderate Genetic Variation [68]
PACC1 OTKBS8CC moderate Biomarker [69]
PCDH11X OTLICG18 moderate Genetic Variation [70]
PCMT1 OTGYVSGU moderate Genetic Variation [71]
POU5F1 OTDHHN7O moderate Altered Expression [72]
PRIM1 OTWWP8Y6 moderate Genetic Variation [73]
PSMC3IP OT9UB5UO moderate Genetic Variation [74]
RPS26 OTBYTA6A moderate Biomarker [75]
RSPO2 OT3HHXU0 moderate Altered Expression [76]
SALL4 OTC08PR5 moderate Genetic Variation [77]
SEMA6C OT1N59T5 moderate Biomarker [78]
SETX OTG3JNOQ moderate Biomarker [79]
SH2B2 OTEDHHDH moderate Genetic Variation [80]
SOHLH2 OTB9EM6C moderate Biomarker [81]
SPO11 OTP49B2R moderate Genetic Variation [82]
SYCE1 OTTOIXW8 moderate Biomarker [83]
TBPL2 OTDEC1KO moderate Biomarker [84]
TCFL5 OTJL4348 moderate Genetic Variation [85]
TGIF2LX OTLBWKZA moderate Biomarker [70]
TSHB OTFDI39D moderate Genetic Variation [41]
ADAMTS19 OTEG5Q2G Strong Biomarker [86]
AIRE OTA7G1Y1 Strong Genetic Variation [87]
BMP15 OT2G3YR1 Strong Biomarker [21]
BNC1 OTGJ5WUF Strong Genetic Variation [88]
DIAPH2 OTBEYFEZ Strong Biomarker [89]
HFM1 OTHV3EFE Strong Genetic Variation [90]
INHBB OT2QLD11 Strong Biomarker [91]
MCM8 OTC93H3S Strong Genetic Variation [89]
MEGF8 OT5G38CH Strong Biomarker [92]
MSC OTBRPZL5 Strong Biomarker [93]
MSH4 OTJZMG1Z Strong Genetic Variation [94]
NLRP5 OTLU1YML Strong Biomarker [87]
NOBOX OT0YFYPZ Strong Genetic Variation [95]
NR5A1 OTOULYR4 Strong Biomarker [96]
NUDT11 OTFDXJA1 Strong Genetic Variation [87]
POLR3H OT7GM7MX Strong Genetic Variation [97]
STAG3 OTEV0AOD Strong Biomarker [98]
AGFG2 OTXQZHCR Definitive Biomarker [99]
NUP107 OTG4RDYS Definitive Biomarker [99]
OSR2 OTYG371T Definitive Genetic Variation [100]
RGPD2 OTMUZ0HX Definitive Biomarker [99]
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⏷ Show the Full List of 94 DOT(s)

References

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2 Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.Arthritis Rheum. 2004 Jul;50(7):2202-10. doi: 10.1002/art.20338.
3 A network pharmacology approach to explore active compounds and pharmacological mechanisms of epimedium for treatment of premature ovarian insufficiency.Drug Des Devel Ther. 2019 Aug 22;13:2997-3007. doi: 10.2147/DDDT.S207823. eCollection 2019.
4 Preoperative administration of the 5-HT4 receptor agonist prucalopride reduces intestinal inflammation and shortens postoperative ileus via cholinergic enteric neurons.Gut. 2019 Aug;68(8):1406-1416. doi: 10.1136/gutjnl-2018-317263. Epub 2018 Nov 24.
5 Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure.Menopause. 2015 Feb;22(2):212-6. doi: 10.1097/GME.0000000000000285.
6 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.Mol Cell Endocrinol. 1997 Mar 28;127(2):221-8. doi: 10.1016/s0303-7207(97)04011-2.
7 A potential functional association between mutant BMPR2 and primary ovarian insufficiency.Syst Biol Reprod Med. 2017 Jun;63(3):145-149. doi: 10.1080/19396368.2017.1291767. Epub 2017 Mar 17.
8 Rare variants in FANCA induce premature ovarian insufficiency.Hum Genet. 2019 Dec;138(11-12):1227-1236. doi: 10.1007/s00439-019-02059-9. Epub 2019 Sep 18.
9 Follicle-stimulating hormone beta gene structure in premature ovarian failure.Fertil Steril. 1993 Nov;60(5):852-7. doi: 10.1016/s0015-0282(16)56286-4.
10 Menstrual blood derived mesenchymal stem cells combined with Bushen Tiaochong recipe improved chemotherapy-induced premature ovarian failure in mice by inhibiting GADD45b expression in the cell cycle pathway.Reprod Biol Endocrinol. 2019 Jul 16;17(1):56. doi: 10.1186/s12958-019-0499-2.
11 A common African variant of human connexin37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect invitro.Int J Mol Med. 2018 Feb;41(2):640-648. doi: 10.3892/ijmm.2017.3257. Epub 2017 Nov 16.
12 Association of polymorphisms in microRNA machinery genes (DROSHA, DICER1, RAN, and XPO5) with risk of idiopathic primary ovarian insufficiency in Korean women.Menopause. 2013 Oct;20(10):1067-73. doi: 10.1097/GME.0b013e3182883907.
13 Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.J Clin Immunol. 2017 Aug;37(6):524-528. doi: 10.1007/s10875-017-0412-8. Epub 2017 Jul 5.
14 Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure.Fertil Steril. 2012 Apr;97(4):968-73. doi: 10.1016/j.fertnstert.2011.12.044. Epub 2012 Jan 20.
15 Association between polymorphisms in renin-angiotensin system genes and primary ovarian insufficiency in Korean women.Menopause. 2013 May;20(5):561-7. doi: 10.1097/GME.0b013e3182733921.
16 Stromal Senp1 promotes mouse early folliculogenesis by regulating BMP4 expression.Cell Biosci. 2017 Jul 25;7:36. doi: 10.1186/s13578-017-0163-5. eCollection 2017.
17 Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.Hum Reprod. 2018 Jul 1;33(7):1254-1261. doi: 10.1093/humrep/dey103.
18 Cytotoxicity and DNA Damage Caused from Diazinon Exposure by Inhibiting the PI3K-AKT Pathway in Porcine Ovarian Granulosa Cells.J Agric Food Chem. 2019 Jan 9;67(1):19-31. doi: 10.1021/acs.jafc.8b05194. Epub 2018 Dec 21.
19 Fancf-deficient mice are prone to develop ovarian tumours.J Pathol. 2012 Jan;226(1):28-39. doi: 10.1002/path.2992. Epub 2011 Nov 14.
20 Effects of deletion of the transcription factor Nrf2 and benzo [a]pyrene treatment on ovarian follicles and ovarian surface epithelial cells in mice.Reprod Toxicol. 2015 Dec;58:24-32. doi: 10.1016/j.reprotox.2015.07.080. Epub 2015 Aug 3.
21 The role of BMP15 and GDF9 in the pathogenesis of primary ovarian insufficiency.Hum Fertil (Camb). 2021 Dec;24(5):325-332. doi: 10.1080/14647273.2019.1672107. Epub 2019 Oct 14.
22 Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure.Sci Rep. 2015 Sep 11;5:13983. doi: 10.1038/srep13983.
23 Identifying a novel role for X-prolyl aminopeptidase (Xpnpep) 2 in CrVI-induced adverse effects on germ cell nest breakdown and follicle development in rats.Biol Reprod. 2015 Mar;92(3):67. doi: 10.1095/biolreprod.114.125708. Epub 2015 Jan 7.
24 Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.Hum Mol Genet. 2008 Dec 1;17(23):3776-83. doi: 10.1093/hmg/ddn274. Epub 2008 Sep 9.
25 Genetic disorders in premature ovarian failure.Hum Reprod Update. 2002 Sep-Oct;8(5):483-91. doi: 10.1093/humupd/8.5.483.
26 Mutational analysis of theFAM175A gene in patients with premature ovarian insufficiency.Reprod Biomed Online. 2019 Jun;38(6):943-950. doi: 10.1016/j.rbmo.2019.02.006. Epub 2019 Feb 28.
27 Serum biomarker analysis in patients with premature ovarian insufficiency.Cytokine. 2020 Feb;126:154876. doi: 10.1016/j.cyto.2019.154876. Epub 2019 Oct 16.
28 ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.Genet Med. 2019 Apr;21(4):930-938. doi: 10.1038/s41436-018-0287-y. Epub 2018 Sep 19.
29 BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz226. doi: 10.1210/clinem/dgz226.
30 The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach.Sci Rep. 2019 Nov 19;9(1):17033. doi: 10.1038/s41598-019-53370-4.
31 Selected persistent organic pollutants associated with the risk of primary ovarian insufficiency in women.Environ Int. 2019 Aug;129:51-58. doi: 10.1016/j.envint.2019.05.023. Epub 2019 May 17.
32 A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.J Hum Genet. 2020 Mar;65(3):305-311. doi: 10.1038/s10038-019-0706-1. Epub 2019 Dec 12.
33 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.EBioMedicine. 2019 Apr;42:524-531. doi: 10.1016/j.ebiom.2019.03.075. Epub 2019 Apr 15.
34 De novo duplication of Xq22.1q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.Taiwan J Obstet Gynecol. 2011 Sep;50(3):339-44. doi: 10.1016/j.tjog.2011.01.018.
35 Biological Function of Ribosomal Protein L10 on Cell Behavior in Human Epithelial Ovarian Cancer.J Cancer. 2018 Feb 6;9(4):745-756. doi: 10.7150/jca.21614. eCollection 2018.
36 Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure.Gynecol Endocrinol. 2012 Jan;28(1):63-7. doi: 10.3109/09513590.2011.583954. Epub 2011 Jul 14.
37 Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency.Gynecol Endocrinol. 2020 Jan;36(1):33-35. doi: 10.1080/09513590.2019.1630606. Epub 2019 Jul 31.
38 Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency.Reprod Biomed Online. 2019 Mar;38(3):407-412. doi: 10.1016/j.rbmo.2018.12.009. Epub 2018 Dec 21.
39 Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency.Fertil Steril. 2019 Sep;112(3):569-576.e2. doi: 10.1016/j.fertnstert.2019.05.005. Epub 2019 Jul 4.
40 Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure.Fertil Steril. 2009 Apr;91(4 Suppl):1339-43. doi: 10.1016/j.fertnstert.2008.03.035. Epub 2008 Jun 13.
41 Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure.Menopause. 2014 Aug;21(8):890-5. doi: 10.1097/GME.0000000000000172.
42 Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Genes (Basel). 2017 Aug 16;8(8):194. doi: 10.3390/genes8080194.
43 Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency.Arch Gynecol Obstet. 2010 Sep;282(3):313-8. doi: 10.1007/s00404-010-1444-y. Epub 2010 Apr 2.
44 Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.Hum Reprod. 2008 Jun;23(6):1457-65. doi: 10.1093/humrep/den086. Epub 2008 Mar 18.
45 Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure.Fertil Steril. 2008 Mar;89(3):728-31. doi: 10.1016/j.fertnstert.2007.03.063. Epub 2007 May 24.
46 CITED2 mutations potentially cause idiopathic premature ovarian failure.Transl Res. 2012 Nov;160(5):384-8. doi: 10.1016/j.trsl.2012.05.006. Epub 2012 Jun 16.
47 Inflammation, Impaired Motility, and Permeability in a Guinea Pig Model of Postoperative Ileus.J Neurogastroenterol Motil. 2018 Jan 30;24(1):147-158. doi: 10.5056/jnm17012.
48 Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.J Clin Endocrinol Metab. 2016 May;101(5):2099-104. doi: 10.1210/jc.2016-1291. Epub 2016 Mar 22.
49 Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity.Curr Med Chem. 2006;13(12):1397-410. doi: 10.2174/092986706776872943.
50 Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency.Hum Mol Genet. 2011 Jul 1;20(13):2642-50. doi: 10.1093/hmg/ddr166. Epub 2011 Apr 19.
51 DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.J Med Genet. 2018 Mar;55(3):198-204. doi: 10.1136/jmedgenet-2017-104992. Epub 2018 Jan 13.
52 Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.Hum Reprod. 2014 Aug;29(8):1818-27. doi: 10.1093/humrep/deu149. Epub 2014 Jun 17.
53 The latest on leukodystrophies.Curr Opin Neurol. 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017.
54 A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.J Ovarian Res. 2019 Dec 6;12(1):119. doi: 10.1186/s13048-019-0595-0.
55 A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.Elife. 2017 Dec 12;6:e30490. doi: 10.7554/eLife.30490.
56 Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.Clin Genet. 2019 Mar;95(3):409-414. doi: 10.1111/cge.13486. Epub 2018 Dec 18.
57 FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure.Reprod Biol Endocrinol. 2011 Dec 16;9:158. doi: 10.1186/1477-7827-9-158.
58 Screening for mutations of the FOXO4 gene in premature ovarian failure patients.Reprod Biomed Online. 2012 Mar;24(3):339-41. doi: 10.1016/j.rbmo.2011.11.017. Epub 2011 Dec 2.
59 Oxytalan-positive peripheral ossifying fibromas express runt-related transcription factor 2, bone morphogenetic protein-2, and cementum attachment protein. An immunohistochemical study.J Oral Pathol Med. 2015 Sep;44(8):628-33. doi: 10.1111/jop.12275. Epub 2014 Oct 30.
60 Disruption of HDX gene in premature ovarian failure.Syst Biol Reprod Med. 2013 Aug;59(4):218-22. doi: 10.3109/19396368.2013.769028. Epub 2013 Feb 26.
61 Insulin-like peptide 3 (INSL3) is a major regulator of female reproductive physiology.Hum Reprod Update. 2018 Nov 1;24(6):639-651. doi: 10.1093/humupd/dmy029.
62 LAMC1 gene is associated with premature ovarian failure.Maturitas. 2012 Apr;71(4):402-6. doi: 10.1016/j.maturitas.2012.01.011. Epub 2012 Feb 10.
63 Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure.Fertil Steril. 1999 Jan;71(1):96-101. doi: 10.1016/s0015-0282(98)00409-9.
64 Analysis of LHX8 mutation in premature ovarian failure.Fertil Steril. 2008 Apr;89(4):1012-4. doi: 10.1016/j.fertnstert.2007.04.017. Epub 2007 Jul 10.
65 MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.J Clin Endocrinol Metab. 2017 Feb 1;102(2):576-582. doi: 10.1210/jc.2016-2565.
66 Mutations in MSH5 in primary ovarian insufficiency.Hum Mol Genet. 2017 Apr 15;26(8):1452-1457. doi: 10.1093/hmg/ddx044.
67 Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.Fertil Steril. 2004 Apr;81(4):1137-9. doi: 10.1016/j.fertnstert.2003.08.054.
68 Contribution of domestic animals to the identification of new genes involved in sex determination.J Exp Zool. 2001 Dec 1;290(7):700-8. doi: 10.1002/jez.1120.
69 Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene.Cytogenet Cell Genet. 2000;89(1-2):44-50. doi: 10.1159/000015560.
70 Copy number variants on the X chromosome in women with primary ovarian insufficiency.Fertil Steril. 2011 Apr;95(5):1584-8.e1. doi: 10.1016/j.fertnstert.2011.01.018. Epub 2011 Feb 12.
71 Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure.Fertil Steril. 2009 Apr;91(4 Suppl):1362-5. doi: 10.1016/j.fertnstert.2008.03.078. Epub 2008 Jun 25.
72 Hedgehog pathway inhibition causes primary follicle atresia and decreases female germline stem cell proliferation capacity or stemness.Stem Cell Res Ther. 2019 Jul 5;10(1):198. doi: 10.1186/s13287-019-1299-5.
73 Variation analysis of PRIM1 gene in Chinese patients with primary ovarian insufficiency.Reprod Biomed Online. 2016 Nov;33(5):587-591. doi: 10.1016/j.rbmo.2016.08.017. Epub 2016 Aug 24.
74 Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.J Clin Endocrinol Metab. 2018 Feb 1;103(2):555-563. doi: 10.1210/jc.2017-01966.
75 Loss of oocyte Rps26 in mice arrests oocyte growth and causes premature ovarian failure.Cell Death Dis. 2018 Nov 19;9(12):1144. doi: 10.1038/s41419-018-1196-3.
76 R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.J Ovarian Res. 2017 Jul 25;10(1):51. doi: 10.1186/s13048-017-0345-0.
77 Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.Hum Genet. 2019 Jan;138(1):83-92. doi: 10.1007/s00439-018-1962-4. Epub 2019 Jan 2.
78 Suppression of SEMA6C promotes preantral follicles atresia with decreased cell junctions in mice ovaries.J Cell Physiol. 2019 Apr;234(4):4934-4943. doi: 10.1002/jcp.27294. Epub 2018 Sep 6.
79 Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.Muscle Nerve. 2009 Sep;40(3):481-5. doi: 10.1002/mus.21328.
80 Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation.J Clin Endocrinol Metab. 2011 Aug;96(8):E1255-61. doi: 10.1210/jc.2011-0414. Epub 2011 Jun 15.
81 Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure.Fertil Steril. 2014 Apr;101(4):1104-1109.e6. doi: 10.1016/j.fertnstert.2014.01.001. Epub 2014 Feb 10.
82 Genetic investigation of four meiotic genes in women with premature ovarian failure.Eur J Endocrinol. 2008 Jan;158(1):107-15. doi: 10.1530/EJE-07-0400.
83 Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.Hum Reprod. 2016 Aug;31(8):1913-25. doi: 10.1093/humrep/dew142. Epub 2016 Jun 14.
84 TBP2 gene may not be associated with primary ovarian insufficiency.Climacteric. 2016 Dec;19(6):565-567. doi: 10.1080/13697137.2016.1231175. Epub 2016 Sep 17.
85 Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure.Hum Reprod. 2013 Nov;28(11):3146-54. doi: 10.1093/humrep/det365. Epub 2013 Sep 7.
86 Comparison of Serum A Disintegrin and Metalloproteinase with Thrombospondin Motifs-19 Levels in Different Fertility Situations: Could It Be a Serum Marker of Ovarian Function and Oocyte Pool?.Gynecol Obstet Invest. 2019;84(1):6-11. doi: 10.1159/000490665. Epub 2018 Jul 6.
87 Autoimmune oophoritis with multiple molecular targets mitigated by transgenic expression of mater.Endocrinology. 2011 Jun;152(6):2465-73. doi: 10.1210/en.2011-0022. Epub 2011 Mar 29.
88 Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261.
89 The MCM8/9 complex: A recent recruit to the roster of helicases involved in genome maintenance.DNA Repair (Amst). 2019 Apr;76:1-10. doi: 10.1016/j.dnarep.2019.02.003. Epub 2019 Feb 5.
90 A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.J Ovarian Res. 2019 Jul 6;12(1):61. doi: 10.1186/s13048-019-0537-x.
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