FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Participants have been investigated in cytogenetic analysis followed by FMR1 repeat size expansions and search of variants for nine premature ovarian insufficiency-associated genes. 31026518 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. 30711457 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE FMR1 premutation carriers of CGG repeats are supposed to be at increased risk for POF. 30030199 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 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
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE The association between the FMR1 premutation (50-200 CGG repeats) and the premature ovarian failure (POF) suggests that epigenetic disorders of FMR1 can act as a risk factor for the DOR as well. 29308622 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis. 27841182 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Our objective was to molecularly characterize CGG repeats and AGG interruption sequences in the FMR1 gene in women of reproductive age and in women with premature ovarian insufficiency (POI). 29188551 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), FXS depends on dysfunctional expression of the FMR1 gene on Xq27.3. 29170104 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF). 28454580 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 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
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. 28812997 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE This comprehensive review first examines where and how the dogma of a finite pool was established, how this has been challenged over the years and addresses the most pertinent questions as to the current status of their existence, their role in female fertility, and perhaps most importantly, if they do exist, how can we harness these cells to improve a woman's oocyte reserve and treat conditions such as premature ovarian insufficiency (POI: also known as premature ovarian failure, POF). 28389520 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Women who carry a fragile X premutation, defined as having 55-200 unmethylated CGG repeats in the 5' UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency (FXPOI). 28941155 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE The 'normal' range of FMR1 triple CGG repeats may be associated with primary ovarian insufficiency in China. 27916452 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Because changes in number of CGG triplets in FMR1 exon 1 (below or beyond normal values of 26-34 triplets) affect ovarian reserve and pre-mutations containing >54 CGG triplets represent a known risk factor for premature ovarian insufficiency/failure, we investigated in the human GC model (COV434) how FMR1/FMRP and mTOR/AKT are expressed and potentially interact during GC proliferation. 28826600 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. 27827529 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). 29179771 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by inheritance of the FMR1 premutation allele and approximately 20% of women with the premutation allele develop ovarian dysfunction and premature ovarian insufficiency. 27695106 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE There was no association of the shorter or longer FMR1 allele or their combined genotype with the clinically relevant end point of early menopause in our main analysis. 27614355 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Women who carry the FMR1 PM are at 20-fold increased risk to develop primary ovarian insufficiency (FXPOI). 26537920 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. 27989800 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE The FMR1 premutation (55-200 repeats) is a known cause of primary ovarian insufficiency. 26345686 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X. 25366135 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE We found no significant association between FMR1 CGG repeat premutation and POF in Indian population. 24452737 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome). 24782005 2014