Genetics of primary ovarian insufficiency: new developments and opportunities

scientific article (publication date: 2015)

Genetics of primary ovarian insufficiency: new developments and opportunities is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1093/HUMUPD/DMV036
P8608Fatcat IDrelease_rnl462u5vzgebofe2ycubj3acm
P3181OpenCitations bibliographic resource ID1220359
P932PMC publication ID4594617
P698PubMed publication ID26243799
P5875ResearchGate publication ID280871960

P50authorZi-Jiang ChenQ56959890
Xue JiaoQ87729947
Yingying QinQ89671219
P2093author name stringJoe Leigh Simpson
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No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failureQ60678065
Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failureQ61705339
INHA promoter polymorphisms are associated with premature ovarian failureQ61705520
Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndromeQ62066205
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Hypergonadotropic hypogonadism in female patients with galactosemiaQ71539411
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A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) miceQ73006816
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X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriersQ82647770
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New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expressionQ86303712
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Transcription factor FIGLA is mutated in patients with premature ovarian failureQ21710713
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Identification of novel mutations in FOXL2 associated with premature ovarian failureQ24302455
FOXL2 mutation screening in a large panel of POF patients and XX malesQ24303685
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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityQ24316260
Ovarian failure related to eukaryotic initiation factor 2B mutationsQ24532076
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) geneQ24533489
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failureQ24546729
MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female miceQ24606421
Mutations in NR5A1 associated with ovarian insufficiencyQ24655709
NOBOX homeobox mutation causes premature ovarian failureQ24677575
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive mannerQ28140406
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failureQ28236974
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instabilityQ28252485
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instabilityQ28253387
Genetic investigation of four meiotic genes in women with premature ovarian failureQ28263196
Sall4 modulates embryonic stem cell pluripotency and early embryonic development by the transcriptional regulation of Pou5f1Q28264106
WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survivalQ28266594
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Growth differentiating factor-9 mutations may be associated with premature ovarian failureQ28277944
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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndromeQ36742557
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseQ36742584
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BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinQ37179550
Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genesQ37198431
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failureQ37294816
A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiencyQ37299661
Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF).Q37331637
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Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.Q37399152
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Screening for mutations of the FOXO4 gene in premature ovarian failure patients.Q39007545
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Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.Q39318931
Similar phenotype characteristics comparing familial and sporadic premature ovarian failureQ39882503
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Progesterone receptor membrane component 1--many tasks for a versatile proteinQ40016630
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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.Q40336505
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Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.Q41665859
HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cellsQ42611514
Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.Q43488491
Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiationQ43678615
Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in cultureQ43985808
Genome-wide copy number scan in Chinese patients with premature ovarian failureQ43988996
Chromosome studies and fertility treatment in women with ovarian failureQ44124005
A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).Q44295477
Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failureQ44428013
Mutational analysis of SKP2 and P27 in Chinese Han women with premature ovarian failureQ44519391
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patientsQ44732116
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.Q44831922
Long-range activation of Sox9 in Odd Sex (Ods) mice.Q44872341
Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failureQ44942825
Cytogenetic analysis of 179 Iranian women with premature ovarian failureQ45228362
Missense mutations in the BMP15 gene are associated with ovarian failureQ28299705
Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repairQ28474807
Microarray analyses of newborn mouse ovaries lacking NoboxQ28504455
The Gs-linked receptor GPR3 maintains meiotic arrest in mammalian oocytesQ28505809
NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expressionQ28507671
Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosisQ28512386
Conserved role of nanos proteins in germ cell developmentQ28590495
Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expressionQ28592246
MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombinationQ28592250
Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8Q28592283
Clast4, the murine homologue of human eIF4E-Transporter, is highly expressed in developing oocytes and post-translationally modified at meiotic maturationQ28593200
Genome-wide association study identifies eight new risk loci for polycystic ovary syndromeQ28943332
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3Q28943454
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Progesterone receptor membrane component 1: an integrative review.Q30157942
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.Q30358065
Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.Q30387625
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataQ30573331
Blood cell mitochondrial DNA content and premature ovarian agingQ31083169
47,XXX in an adolescent with premature ovarian failure and autoimmune diseaseQ33338344
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disordersQ33357146
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)Q33592402
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentrationQ33766080
Ovarian differentiation and gonadal failureQ33869535
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 platformQ33888318
Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.Q33903951
Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate geneQ33909570
FMR1 premutation is an uncommon explanation for premature ovarian failure in Han ChineseQ33933573
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patientsQ33953723
Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.Q33962599
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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeQ34050925
Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregionQ34108150
Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expressionQ34154635
FSH receptor gene variants are rarely associated with premature ovarian failure.Q45488944
Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.Q45728755
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.Q45931023
Expression of forkhead transcription factors in human granulosa cells.Q45950999
Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women.Q45959369
New candidate gene POU5F1 associated with premature ovarian failure in Chinese patientsQ46136241
Mutations in HFM1 in recessive primary ovarian insufficiencyQ46334284
Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotypeQ46509003
Copy number variants on the X chromosome in women with primary ovarian insufficiencyQ46646614
Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns.Q46748835
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Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failureQ47580970
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failureQ47681205
Mutational analysis of the PTEN gene in women with premature ovarian failureQ47779970
Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failureQ47810869
The human FOXL2 mutation databaseQ48178298
"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.Q48573378
GPR3 may not be a potential candidate gene for premature ovarian failure.Q48705418
Leukodystrophy in patients with ovarian dysgenesis.Q48718493
Oocyte-specific G-protein-coupled receptor 3 (GPR3): no perturbations found in 82 women with premature ovarian failure (first report).Q48774801
p27kip1 (cyclin-dependent kinase inhibitor 1B) controls ovarian development by suppressing follicle endowment and activation and promoting follicle atresia in mice.Q48790146
The ovarioleukodystrophy.Q49013494
ACOG committee opinion. No. 338: Screening for fragile X syndrome.Q50303684
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.Q50494177
Incidence of premature ovarian failure.Q50578284
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.Q50639684
Infertility caused by retardation of follicular development in mice with oocyte-specific expression of Foxo3a.Q50641713
Low oocyte mitochondrial DNA content in ovarian insufficiency.Q50667877
Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome.Q50715202
Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function.Q50715267
Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure.Q50722148
Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure.Q50760860
Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.Q50785846
CITED2 mutations potentially cause idiopathic premature ovarian failure.Q50801004
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure.Q50852776
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).Q50992286
Progesterone regulation of human granulosa/luteal cell viability by an RU486-independent mechanism.Q51131168
Genetics of female infertility due to anomalies of the ovary and mullerian ducts.Q51142655
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).Q51403495
Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.Q51575318
Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.Q51633143
Absence of 566C>T mutation in exon 7 of the FSHR gene in Indian women with premature ovarian failure.Q51740733
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.Q51820070
Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.Q51947721
Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure.Q52019268
Long‐term prognosis in galactosaemia: Results of a survey of 350 casesQ52243798
The cytogenetics of premature ovarian failureQ52477620
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.Q52605923
Guidelines for the appropriate use of genetic tests in infertile couples.Q53313560
Mitotic cell-cycle progression is regulated by CPEB1 and CPEB4-dependent translational control.Q53331702
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.Q53612457
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).Q53891439
Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure.Q54469176
POLG mutations and age at menopause.Q54513525
Premature ovarian failure in a 35-year-old woman with a Robertsonian translocation.Q54577722
[Follicular stimulating hormone receptor gene C566T mutation in premature ovarian failure].Q54597806
Ovarian function in Duarte galactosemiaQ34196652
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian FailureQ34200920
Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging processQ34231189
Premature ovarian failure in androgen receptor-deficient miceQ34248205
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiencyQ34354181
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.Q34354760
Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiencyQ34430861
Cytogenetics of premature ovarian failure: an investigation on 269 affected women.Q34521311
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresQ34591212
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failureQ34708642
Ovarian function in girls and women with GALT-deficiency galactosemiaQ34714428
Parathyroid hormone-responsive B1 gene is associated with premature ovarian failureQ34762751
A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locusQ34806051
Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failureQ34859528
Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groupsQ35000710
Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failureQ35071685
Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdownQ35181950
Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosisQ35190411
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two typesQ35203221
X inactivation in man: a woman with t(Xq--;12q+)Q35569996
ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failureQ35744778
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe StudyQ35771001
Mental status of females with an FMR1 gene full mutationQ35881685
The genetics of XX gonadal dysgenesisQ35889339
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosineQ36253589
An encyclopedia of mouse DNA elements (Mouse ENCODE).Q36377972
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.Q36404667
The FMR1 premutation and reproductionQ36639128
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectobstetrics and gynaecologyQ80015
genetic variationQ349856
reproductive medicineQ351870
premature ovarian failureQ647630
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)787-808
P577publication date2015-01-01
2015-08-04
P1433published inHuman Reproduction UpdateQ15724523
P1476titleGenetics of primary ovarian insufficiency: new developments and opportunities
P478volume21

Reverse relations

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Q33667578Role of microRNAs in premature ovarian insufficiency
Q57167291Scans for signatures of selection in Russian cattle breed genomes reveal new candidate genes for environmental adaptation and acclimation
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