Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
|
17826728 |
2008 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure.
|
19486016 |
2009 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to verify the involvement of BMP15 variations in a large POF population.
|
16464940 |
2006 |
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 |
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 |
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 |
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 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Similarly, large numbers of mutations in the GDF9 and BMP15 genes have been identified in women with premature ovarian failure and in mothers of dizygotic twins.
|
21226076 |
2011 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have discovered several mutations in the screening of BMP15 in premature ovarian failure but none in PCOS.
|
22014425 |
2011 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF).
|
16645022 |
2006 |
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 |
This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI.
|
29169851 |
2018 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Nine variants of the BMP15 gene including six missense substitutions and one insertion of three nucleotides were identified in the POF group.
|
20364024 |
2010 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that mutations in BMP-15 exons, or changes in BMP-15 pro-peptide, are rare in Chinese women with POF.
|
17464588 |
2007 |
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 |
However, three single nucleotide polymorphisms in the BMP15 gene, two in the 5' untranslated region (31T>G and 71C>G) and another in exon 1 (387G>A), were found to be common in both POF and control groups.
|
17027369 |
2006 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The genetic analysis performed on a cohort of patients with POI revealed that 8% had FMR1 premutation and only one patient a previously known variant of BMP-15 gene.
|
23107817 |
2013 |
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 |
Here, screening of 300 unrelated idiopathic overt POI women with primary or secondary amenorrhea (SA) led to the identification of six heterozygous BMP15 variations in 29 of them.
|
19263482 |
2009 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the coding region of the BMP15 gene was carried out in a cohort of women with POF (n=133), primary amenorrhoea (n=60), and secondary amenorrhoea (n=9) compared with control females (n=197).
|
16508750 |
2006 |