|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Concerning GDF9, no association was found among the studied genetic variants and POI or high FSH groups.
|
31392662 |
2019 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
The role of BMP15 and GDF9 in the pathogenesis of primary ovarian insufficiency.
|
31607184 |
2019 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified 1 homozygous 1-bp deletion variant (c.783delC) in the GDF9 gene in 1 patient with POI.
|
29044499 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in some master regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, and GDF9 have been suggested as etiological factors in the development of POI.
|
29916099 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the four SNPs identified across the GDF9 loci, D57Y (169G>T), rs1049127 (546G>A), rs254286 (447C>T) and rs254285 (969C>G), the frequencies of the 546G>A genotype and allele A were significantly higher in the POF group, compared with the normal control group (34.92, vs. 6.90%; P<0.05 and 19.05, vs. 3.23%; P<0.05, respectively), while no significant differences were observed in the occurrence of the c.447C>T and c.969C>G mutations between the two groups (60.32, vs. 50% and 50.79, vs. 55.17%, respectively).
|
25954833 |
2015 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, three prodomain mutations associated with premature ovarian failure (S186Y, V216M, and T238A) all resulted in the activation of hGDF9.
|
24438375 |
2014 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
A mutation affecting the regulatory region of growth differentiation factor 9 (GDF9) was identified for the first time together with several novel candidate genes for POI.
|
24939957 |
2014 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
As genetic studies of the BMP-15 and/or GDF-9 genes in ewes established that a reduction of these proteins is associated with an increased ovulation rate, it is conceivable that women affected with these mutations may have an increased probability of bearing dizygotic twins during active reproductive ages before diagnosis with POI at later ages due to an earlier exhaustion of ovarian reserve.
|
20547206 |
2010 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have discovered several mutations in the screening of GDF9 in premature ovarian failure but none in PCOS.
|
20705511 |
2010 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the GDF9 gene in 61 women with POF.
|
17156781 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case-control study was designed for mutational analysis of the GDF9 coding region in a cohort of women with premature ovarian failure (n = 127), primary amenorrhea (n = 58), and secondary amenorrhea (n = 10) compared with controls (n = 220).
|
16278619 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
|
17482612 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
This case-control study was designed for mutational analysis of the GDF9 coding region in a cohort of women with premature ovarian failure (n = 127), primary amenorrhea (n = 58), and secondary amenorrhea (n = 10) compared with controls (n = 220).
|
16278619 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational analysis of the GDF9 gene in 61 women with POF.
|
17156781 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
|
17482612 |
2007 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure.
|
17027369 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHalpha, GDF9, USP9X) in the leukocytes of 101 POF patients.
|
16719785 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.
|
16645022 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.
|
16645022 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The missense mutation in the GDF-9 gene or the GDF-9B/BMP-15 gene is uncommon in anovulatory Japanese women with POF and PCOS.
|
11056243 |
2000 |