|
Ovarian Dysgenesis 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure.
|
19438907 |
2010 |
|
Ovarian Dysgenesis 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure.
|
19486016 |
2009 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.
|
19263482 |
2009 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
|
16645022 |
2006 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
|
16464940 |
2006 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the BMP15 gene are associated with ovarian failure.
|
16508750 |
2006 |
|
Ovarian Dysgenesis 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.
|
15136966 |
2004 |
|
Ovarian Dysgenesis 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Ovarian Dysgenesis 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Polycystic Ovary Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
GDF9 and BMP15 associations with oocyte number differed significantly (P < 0.05) with PCOS status.
|
31211369 |
2019 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent functional studies have validated genetic factors (Progesterone receptor membrane component 1 (<i>PGRMC1</i>)), Fragile X mental retardation 1 (<i>FMR1</i>, <i>GDF9</i> and <i>BMP15</i>) as being causative of primary ovarian insufficiency (POI), <i>BMP15/GDF9</i> gene variants were found to have a high incidence on the POI phenotype.
|
31607184 |
2019 |
|
Polycystic Ovary Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The immunoreactivity of growth differentiation factor 9 and bone morphogenetic protein 15 proteins decreased (p<0.05) in the Polycystic ovary syndrome group (27.73±8.43 and 24.85±7.03, respectively) compared with the control group (33.72±11.22 and 31.12±11.05, respectively) and vehicle group (33.95±10.75 and 29.99±10.72, respectively).
|
28903889 |
2018 |
|
Polycystic Ovary Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed.
|
29544636 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed.
|
29544636 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI.
|
29169851 |
2018 |
|
Polycystic Ovary Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In addition, the expression of BMP15 in follicular fluid and Smad1 in granulosa cells was significantly decreased in the PCOS group compared with the control (P<0.05).
|
28983616 |
2017 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Bone morphogenetic protein 15 (BMP15) variants have been described in POI.
|
28094433 |
2017 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BMP15 associated with POI reduce mature protein production, activity, or synergy with GDF9.
|
28359091 |
2017 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Coexisting gene variants in POI-related genes, such as BMP15, may act synergistically and explain the observed phenotypic variability in women with BPES (ie, BPES with or without POI).
|
25988799 |
2015 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A total of three SNPs were detected within the BMP15 gene, including rs3810682 (-9C>G), rs79377927 (788_789insTCT) and rs17003221 (852C>T), and no significant differences were observed in the frequencies of the -9C>G and 852C>T genotypes between the POF and control groups (7.94, vs. 6.90% and 4.76, vs. 3.45%, respectively).
|
25954833 |
2015 |
|
Polycystic Ovary Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In Graafian follicles, GDF9 and BMP15 expression reached comparable levels in the PCOS and control groups (P > 0.05).
|
25172094 |
2014 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A functional association between the BMP15 c.-9C>G promoter polymorphism and cause of POF have been reported.
|
25246117 |
2014 |
|
Polycystic Ovary Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The abundance of GDF9 mRNA was significantly lower (P < 0.01) while the abundance of BMP15 mRNA was significantly higher (P < 0.001) in GCs from stimulated-PCOS group than in unstimulated-PCOS group.
|
23912750 |
2013 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alterations of the BMP15 gene have been found associated with different ovarian phenotypic effects depending on the species, from sterility to increased prolificacy in sheep, slight subfertility in mouse or associated with primary ovarian insufficiency (POI) in women.
|
24147118 |
2013 |