|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome.
|
18165276 |
2008 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
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 |
The risk for premature ovarian failure increases in association with two principal known etiologies: in the presence of excessive triple CGG expansions on the FMR1 (fragile X) gene (genetic etiology) and in association with a variety of autoimmune conditions (autoimmune etiology).
|
19197218 |
2009 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Analysis of the CGG expansion in the FMR1 gene may be justified in women with POF and EM until the real role of the FMR1 premutation is determined.
|
11256870 |
2001 |
|
Ovarian Failure, Premature
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
To study three molecular parameters (number of CGG repeats, X-inactivation ratio, and expression of FMR1 mRNA) in premutation carriers of fragile X syndrome with and without premature ovarian failure (POF) to find differences between these two groups that could be useful in reproductive counseling.
|
18427356 |
2009 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
LHGDN |
The results obtained strengthen the correlation between FMR1 expansion and POF and suggest that the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
|
16361284 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conducted molecular analysis of the FMR1 gene from 300 women of reproductive age and 140 women with POI using triplet primed-polymerase chain reaction.
|
29188551 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome).
|
24782005 |
2014 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3-q27 [Krauss et al., N Engl J Med 317:125-131, 1987; Davies et al., Cytogenet Cell Genet 58:853-966, 1991] or within Xq26.1-q27 [Tharapel et al., Am J Hum Genet 52:463-471, 1993] responsible for POF.(ABSTRACT TRUNCATED AT 250 WORDS)
|
7977456 |
1994 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles.
|
24788194 |
2014 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Carriers of a premutation (CGG repeat length 55-200) in the fragile X mental retardation (FMR1) gene are at risk for primary ovarian insufficiency (FXPOI).
|
21576079 |
2011 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR.
|
27876427 |
2017 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of the FMR1 premutation and intermediate alleles was examined and allele length was compared between controls and women with occult POI.
|
21646280 |
2011 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Women with spontaneous premature ovarian failure are at increased risk of having an FMR1 premutation and should be informed of the availability of fragile X testing.
|
16275254 |
2005 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A recent study has reported that the POI in BRCA1/2-mutation carriers is most likely due to low FMR1 sub-genotype (CGG n < 26) and the authors also suggested that low sub-genotypes of the FMR1 gene might be important to rescue the BRCA1/2 embryos, which would otherwise be embryonically-lethal.
|
23760159 |
2013 |
|
Ovarian Failure, Premature
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
DNA and RNA samples were isolated from 74 patients with idiopathic POF to evaluate quantitatively the expression of FMR1 in leukocytes and CGG triplet number on FMR1 gene alleles. mRNA levels were normalized and compared with those of control women.
|
21335413 |
2011 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this work we describe a large Brazilian family in which a POF/premutated woman has transmitted to five out of seven daughters a FMR1 premutated allele.
|
12119565 |
2002 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fewer than 26 or more than 28 CGG repeats in FMR1 allele1 were both risk factors of POI occurrence.
|
27916452 |
2017 |
|
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 |
FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
|
25366135 |
2015 |
|
Ovarian Failure, Premature
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
POF and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels.
|
12952862 |
2003 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
|
29986653 |
2018 |
|
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
The results obtained strengthen the correlation between FMR1 expansion and POF and suggest that the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
|
16361284 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency.
|
19460937 |
2009 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results together suggest that FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI.
|
22914733 |
2012 |