NOBOX

gene
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Also known as OG2Og2x

Summary

NOBOX (NOBOX oogenesis homeobox, HGNC:22448) is a protein-coding gene on chromosome 7q35, encoding Homeobox protein NOBOX (O60393). Transcription factor which may play a role in oogenesis.

This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.

Source: NCBI Gene 135935 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): premature ovarian failure 5 (Strong, GenCC)
  • GWAS associations: 6
  • Clinical variants (ClinVar): 218 total — 10 pathogenic, 6 likely-pathogenic
  • Phenotypes (HPO): 7

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:22448
Approved symbolNOBOX
NameNOBOX oogenesis homeobox
Location7q35
Locus typegene with protein product
StatusApproved
AliasesOG2, Og2x
Ensembl geneENSG00000106410
Ensembl biotypeprotein_coding
OMIM610934
Entrez135935

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000467773, ENST00000643164, ENST00000645489

RefSeq mRNA: 1 — MANE Select: None NM_001080413

CCDS: CCDS47736

Canonical transcript exons

ENST00000467773 — 10 exons

ExonStartEnd
ENSE00000729273144399397144399482
ENSE00000729276144399757144399863
ENSE00000729280144401046144401597
ENSE00001505566144400110144400312
ENSE00001550402144401869144401950
ENSE00001554893144404556144404680
ENSE00001557808144410143144410227
ENSE00001681449144398282144398586
ENSE00001702350144398950144399178
ENSE00003642859144397240144397541

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 69.06.

Top tissues by expression

128 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099169.06gold quality
colonic epitheliumUBERON:000039737.20gold quality
granulocyteCL:000009436.79gold quality
right testisUBERON:000453436.50gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
apex of heartUBERON:000209835.54gold quality
ganglionic eminenceUBERON:000402335.49gold quality
testisUBERON:000047335.14gold quality
left testisUBERON:000453333.85silver quality
skeletal muscle tissueUBERON:000113433.38gold quality
bone marrowUBERON:000237132.88gold quality
muscle tissueUBERON:000238532.17gold quality
hindlimb stylopod muscleUBERON:000425232.15gold quality
leukocyteCL:000073830.30gold quality
prefrontal cortexUBERON:000045130.22gold quality
monocyteCL:000057629.95gold quality
stromal cell of endometriumCL:000225529.87gold quality
vermiform appendixUBERON:000115429.34gold quality
liverUBERON:000210728.57gold quality
duodenumUBERON:000211428.14gold quality
lymph nodeUBERON:000002927.57gold quality
smooth muscle tissueUBERON:000113527.46gold quality
tonsilUBERON:000237227.05gold quality
cortex of kidneyUBERON:000122527.02gold quality
islet of LangerhansUBERON:000000626.97gold quality
superior frontal gyrusUBERON:000266126.82gold quality
bloodUBERON:000017826.78gold quality
kidneyUBERON:000211326.23gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.16

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

TargetRegulation
BGLAP
GDF9
POU5F1Unknown

Upstream regulators (CollecTRI, top): CEBPD, CEBPG, RUNX2

Literature-anchored findings (GeneRIF, showing 14)

  • Mutations of the homeobox region of the NOBOX gene are uncommon in Japanese patients with premature ovarian failure. (PMID:15950662)
  • NOBOX expression within adult human tissues is limited to the testis, pancreas and oocyte specific in ovary. (PMID:16597639)
  • These findings demonstrate that NOBOX mutations can cause premature ovarian failure. (PMID:17701902)
  • Mutations in the homeobox domain of NOBOX are not common explanations for POF in Chinese women. (PMID:18930203)
  • The very high 6.2% prevalence of these new mutations in POI patients suggest considering NOBOX as the first autosomal candidate gene involved in this syndrome. (PMID:21837770)
  • both NOBOX and FOXL2 are expressed in human follicle granulosa cells and their interaction plays an inhibitory role in the transcriptional response of these promoters. (PMID:24620032)
  • High prevalence of the association between the NOBOX rare variants and Primary ovarian insufficiency. (PMID:25514101)
  • Screening of NOBOX gene indicted three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients with primary ovarian insufficiency. (PMID:26848058)
  • we report the identification of two novel and two recurrent heterozygous NOBOX variants in 7 out of 107 patients, with a prevalence of 6.5% (upper 95% confidence limit of 11.17%). Several variants conserve the ability to interact with FOXL2 in intracellular aggregates (PMID:27798098)
  • One novel homozygous truncating variant, chr7:144098161delC, in the NOBOX gene was found in a primary ovarian insufficiency patient. The truncating variant showed a severe defect in transcriptional activation of GDF9 a well-known target of NOBOX. Many oocyte-related genes were expressed at lower level in truncating variant cells than in control cells. We found the truncated NOBOX lost its ability to induced G2/M arrest. (PMID:27836978)
  • RSPO2 is a novel target gene of the NOBOX key transcription factor, confirming its important role during the follicular growth in ovary. However, RSPO2 mutations are rare or uncommon in women with primary ovarian insufficiency. (PMID:28743298)
  • We report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure (PMID:29067606)
  • Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. (PMID:34480423)
  • NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights. (PMID:37921973)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusNoboxENSMUSG00000029736
rattus_norvegicusNoboxENSRNOG00000025720

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Homeobox protein NOBOXO60393 (reviewed: O60393)

All UniProt accessions (3): O60393, A0A2R8Y683, A0A2R8Y8C8

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5’-TAATTG-3’, 5’-TAGTTG-3’ and 5’-TAATTA-3'.

Subcellular location. Nucleus.

Tissue specificity. Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes.

Disease relevance. Premature ovarian failure 5 (POF5) [MIM:611548] An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt IDNamesCanonical?
O60393-11yes
O60393-22

RefSeq proteins (1): NP_001073882 (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001356HDDomain
IPR009057Homeodomain-like_sfHomologous_superfamily
IPR042988NOBOXFamily

Pfam: PF00046

UniProt features (27 total): sequence variant 15, compositionally biased region 5, region of interest 4, chain 1, DNA-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O60393-F148.120.03

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9820841M-decay: degradation of maternal mRNAs by maternally stored factors

MSigDB gene sets: 53 (showing top): GOBP_OOGENESIS, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, chr7q35, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, ESC_J1_UP_LATE.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_2H_DN, GSE10239_MEMORY_VS_KLRG1HIGH_EFF_CD8_TCELL_UP, GSE13306_RA_VS_UNTREATED_TREG_DN, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE14308_TH2_VS_NATURAL_TREG_UP

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), oogenesis (GO:0048477), cell differentiation (GO:0030154)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Maternal to zygotic transition (MZT)1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
transcription by RNA polymerase II1
germ cell development1
female gamete generation1
cellular developmental process1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
regulation of transcription by RNA polymerase II1
DNA binding1
nucleic acid binding1
transcription cis-regulatory region binding1
transcription regulator activity1
chromosome1
cellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

848 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NOBOXFIGLAQ6QHK4978
NOBOXSOHLH1Q5JUK2942
NOBOXBMP15O95972935
NOBOXGDF9O60383930
NOBOXLHX8Q68G74928
NOBOXFOXL2P58012895
NOBOXYBX2Q9Y2T7880
NOBOXPOF1BQ8WVV4869
NOBOXSOHLH2Q9NX45748
NOBOXZP3P21754743
NOBOXFMR1Q06787729
NOBOXPOU5F1P31359694
NOBOXDIAPH2O60879693
NOBOXNR5A1Q13285680
NOBOXZP1P60852659

IntAct

2 interactions, top by confidence:

ABTypeScore
NOBOXCDK2psi-mi:“MI:0914”(association)0.350

BioGRID (5): CCNJ (Affinity Capture-MS), DHX32 (Affinity Capture-MS), C5orf22 (Affinity Capture-MS), CDK2 (Affinity Capture-MS), CDK5RAP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9ZHS7, A1YGK1, A2T7E6, A8MZG2, O08574, O43593, O60393, O75593, O88621, O95231, P0C1T1, P0CG20, P20428, P97609, Q04667, Q17QR5, Q2KIS6, Q2M1V0, Q2T9Q7, Q32LE6, Q497V6, Q5JUK2, Q5M844, Q5RJB0, Q5TGS1, Q61645, Q61657, Q6ZMY3, Q6ZN32, Q6ZNG2, Q7RTU1, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8N1L9, Q8N7G0, Q8N944, Q8N9Y4

Diamond homologs: A1YG25, A2T711, A6NJT0, A6NNA5, A6YP92, G5EC89, O08934, O09113, O14813, O15266, O35085, O35137, O35160, O35602, O35690, O35750, O42115, O42250, O42357, O42358, O42477, O60393, O60902, O70137, O75364, O76971, O93385, O95076, O97039, P0DMV5, P23759, P29506, P41935, P47239, P54821, P56672, P58304, P63013, P63014, P70314

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

218 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic10
Likely pathogenic6
Uncertain significance136
Likely benign24
Benign32

Top pathogenic / likely-pathogenic (16)

Variant IDHGVSClassification
1255994NM_001436401.1(NOBOX):c.1690dup (p.Ala564fs)Pathogenic
1256025NM_001436401.1(NOBOX):c.780del (p.Gly261fs)Pathogenic
1256031NM_001436401.1(NOBOX):c.1323_1326del (p.Phe442fs)Pathogenic
167873NM_001436401.1(NOBOX):c.652C>T (p.Arg218Ter)Pathogenic
167876NM_001436401.1(NOBOX):c.696+74G>CPathogenic
167877NM_001436401.1(NOBOX):c.697G>T (p.Val233Leu)Pathogenic
2426756NC_000007.13:g.(?144094333)(144532695_?)delPathogenic
3376873NM_001436401.1(NOBOX):c.958del (p.Val320fs)Pathogenic
957395NM_001436401.1(NOBOX):c.971del (p.Pro324fs)Pathogenic
970942NM_001436401.1(NOBOX):c.696+23_696+24dupPathogenic
1256013NM_001436401.1(NOBOX):c.947G>T (p.Gly316Val)Likely pathogenic
1256030NM_001436401.1(NOBOX):c.848C>T (p.Pro283Leu)Likely pathogenic
2630292NM_001436401.1(NOBOX):c.1138del (p.Cys380fs)Likely pathogenic
4081552NM_001080413.3(NOBOX):c.120T>A (p.Cys40Ter)Likely pathogenic
812129NM_001436401.1(NOBOX):c.727C>T (p.Arg243Ter)Likely pathogenic
929756NM_001436401.1(NOBOX):c.1089G>C (p.Lys363Asn)Likely pathogenic

SpliceAI

1318 predictions. Top by Δscore:

VariantEffectΔscore
7:144398585:TG:Tacceptor_gain1.0000
7:144399048:A:Tacceptor_gain1.0000
7:144399392:CTCA:Cdonor_loss1.0000
7:144399393:TCACC:Tdonor_loss1.0000
7:144399394:CA:Cdonor_loss1.0000
7:144399395:A:AGdonor_loss1.0000
7:144399483:C:CCacceptor_gain1.0000
7:144399490:C:CTacceptor_gain1.0000
7:144399753:TGAC:Tdonor_loss1.0000
7:144399754:GACC:Gdonor_loss1.0000
7:144399859:CACAC:Cacceptor_gain1.0000
7:144399861:CAC:Cacceptor_gain1.0000
7:144399864:CT:Cacceptor_loss1.0000
7:144399865:T:Cacceptor_loss1.0000
7:144400203:TAC:Tdonor_loss1.0000
7:144400205:CCA:Cdonor_loss1.0000
7:144400257:A:ACdonor_gain1.0000
7:144400308:CTGAT:Cacceptor_gain1.0000
7:144400309:TGAT:Tacceptor_gain1.0000
7:144400310:GAT:Gacceptor_gain1.0000
7:144400311:AT:Aacceptor_gain1.0000
7:144400313:C:CCacceptor_gain1.0000
7:144398366:C:CTacceptor_gain0.9900
7:144398511:T:TAdonor_gain0.9900
7:144398582:TGATG:Tacceptor_gain0.9900
7:144398587:C:CCacceptor_gain0.9900
7:144398944:CCTTA:Cdonor_loss0.9900
7:144398945:CTTAC:Cdonor_loss0.9900
7:144398946:TTA:Tdonor_loss0.9900
7:144398948:A:Cdonor_loss0.9900

AlphaMissense

4442 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:144400284:G:CF291L0.998
7:144400284:G:TF291L0.998
7:144400286:A:GF291L0.998
7:144399855:G:CF352L0.997
7:144399855:G:TF352L0.997
7:144399857:A:GF352L0.997
7:144400240:G:TA306D0.997
7:144399832:C:GR360P0.996
7:144400285:A:GF291S0.996
7:144399856:A:GF352S0.995
7:144400297:A:GL287P0.995
7:144401055:A:CY279D0.994
7:144399848:G:TR355S0.993
7:144400210:A:GI316T0.993
7:144400253:G:TR302S0.993
7:144400285:A:CF291C0.992
7:144399837:C:AK358N0.991
7:144399837:C:GK358N0.991
7:144399847:C:GR355P0.991
7:144400210:A:CI316S0.991
7:144400241:C:GA306P0.990
7:144399834:C:AW359C0.989
7:144399834:C:GW359C0.989
7:144399836:A:GW359R0.989
7:144399836:A:TW359R0.989
7:144400252:C:GR302P0.989
7:144399856:A:CF352C0.988
7:144400286:A:CF291V0.988
7:144400306:A:GL284P0.987
7:144399849:A:CN354K0.986

dbSNP variants (sampled 300 via entrez): RS1000047551 (7:144402580 C>A,G,T), RS1000063719 (7:144404804 A>C,G,T), RS1000109299 (7:144411509 G>A), RS1000118071 (7:144408383 G>A), RS1000172259 (7:144407993 T>C), RS1000398729 (7:144402878 TC>T), RS1000451863 (7:144406897 T>C), RS1000503515 (7:144406608 T>A), RS1000883825 (7:144412148 A>G), RS1001022982 (7:144404013 T>G), RS1001229494 (7:144408143 C>A), RS1001293169 (7:144397456 T>G), RS1001558639 (7:144403022 G>A), RS1001815748 (7:144408819 G>A,T), RS1001818488 (7:144408796 G>A)

Disease associations

OMIM: gene MIM:610934 | disease phenotypes: MIM:611548, MIM:614458, MIM:311360, MIM:114480

GenCC curated gene-disease

DiseaseClassificationInheritance
premature ovarian failure 5StrongAutosomal dominant

Mondo (5): premature ovarian failure 5 (MONDO:0012689), childhood encephalopathy due to thiamine pyrophosphokinase deficiency (MONDO:0013761), premature ovarian failure 1 (MONDO:0010706), hereditary breast carcinoma (MONDO:0016419), primary ovarian failure (MONDO:0005387)

Orphanet (5): Rare genetic premature ovarian failure (Orphanet:485382), Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955), Fragile X-associated primary ovarian insufficiency (Orphanet:642691), Hereditary breast cancer (Orphanet:227535), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000786Primary amenorrhea
HP:0000869Secondary amenorrhea
HP:0008209Premature ovarian insufficiency
HP:0008724Hypoplasia of the ovary
HP:0010464Streak ovary
HP:0033085Reduced antral follicle count

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001937_6Breast cancer7.000000e-11
GCST004988_267Breast cancer1.000000e-11
GCST005169_4Diastolic blood pressure4.000000e-06
GCST009391_862Metabolite levels9.000000e-06
GCST010136_23Fruit consumption5.000000e-08
GCST010136_24Fruit consumption1.000000e-48

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0006336diastolic blood pressure
EFO:0010533sorbitol measurement
EFO:0008111diet measurement

MeSH disease descriptors (3)

DescriptorNameTree numbers
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C562840Breast Cancer, Familial (supp.)
C566921Premature Ovarian Failure 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

ChemicalActions (top 5)PubMed papers
Arsenicaffects methylation1
Valproic Acidincreases methylation1
Aflatoxin B1increases methylation1
Particulate Matterincreases methylation1

Clinical trials (associated diseases)

92 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT04009473PHASE1/PHASE2UNKNOWNStem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT05687474Not specifiedCOMPLETEDBaby Detect : Genomic Newborn Screening
NCT04031456PHASE2/PHASE3RECRUITINGAutologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT00471731Not specifiedCOMPLETEDDry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure
NCT01023178Not specifiedCOMPLETEDComparison of Transdermal and Oral Estrogens in Adolescent Girls With Ovarian Failure
NCT01177891Not specifiedCOMPLETEDGenetic Analysis of Familial Cases of Premature Ovarian Failure
NCT02780791Not specifiedTERMINATEDMaturation of Follicles After Transplantation of Ovarian Tissue Into the Pelvic Wall and the Ovary
NCT05443282Not specifiedCOMPLETEDOvarian Reserve and Matrix Metalloproteinases
NCT07117682Not specifiedNOT_YET_RECRUITINGSafety and Efficacy of Autologous Adipose-Derived Regenerative Cells (ADRCs) Injection for Improving Diminished Ovarian Reserve
NCT00040222Not specifiedCOMPLETEDClinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
NCT02557776Not specifiedCOMPLETEDWritten Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
NCT03495544Not specifiedUNKNOWNStudy Estimating Association Between Germline Mutations and PD-L1 Expression in Breast Cancer
NCT03959267Not specifiedCOMPLETEDTesting a Culturally Adapted Telephone Genetic Counseling Intervention
NCT04058418Not specifiedCOMPLETEDSpecialist Recommendation on FBC (Familial Breast Cancer) Chemoprevention Prescribing
NCT04125914Not specifiedACTIVE_NOT_RECRUITINGWeight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families
NCT04169542Not specifiedRECRUITINGImpact of COVID-19 Pandemic on Out-of-Pocket Costs, Lost Wages, and Unemployment in Patients With Breast Cancer Undergoing Breast Surgery
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