Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation [PDF]
Cells, 2023 The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone +45 more
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Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size. [PDF]
Genet Med, 2021 Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk.To better understand the risk by repeat size, we collected self-reported reproductive histories on 1,
Allen EG +11 more
europepmc +4 more sources
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI). [PDF]
J Assist Reprod Genet, 2023 The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight
Poteet B +6 more
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eLifeExpansion of CGG repeats (CGGexp) in the 5’ untranslated region (5’UTR) of the FMR1 gene underlies the fragile X premutation-associated conditions including tremor/ataxia syndrome, a late-onset neurodegenerative disease and fragile X-associated primary ...
Katarzyna Tutak +6 more
doaj +2 more sources
Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). [PDF]
Reprod Health, 2014 Fragile X syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The full mutation, defined as >200 cytosine-guanine-guanine (CGG) triplet repeats, causes FXS.
Peprah E.
europepmc +4 more sources
Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool. [PDF]
J Assist Reprod GenetGaps in knowledge among women's healthcare providers have contributed to diagnostic delays and delayed care for women with fragile X-associated primary ovarian insufficiency (FXPOI). The objective of this study was to assess if an educational tool could improve women's healthcare providers' knowledge of FXPOI.A one-page educational tool about the ...
Peery E +7 more
europepmc +3 more sources
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. [PDF]
Genet Epidemiol, 2008 AbstractThe fragile X mental retardation gene (FMR1) contains a CGG repeat sequence in its 5′ untranslated region that can become unstable and expand in length from generation to generation. Alleles with expanded repeats in the range of ∼55–199, termed premutation alleles, are associated with an increased risk for fragile‐X‐associated primary ovarian ...
Hunter JE +4 more
europepmc +4 more sources
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. [PDF]
Hum Reprod, 2016 Does repeat-associated non-AUG (RAN) translation play a role in fragile X-associated primary ovarian insufficiency (FXPOI), leading to the presence of polyglycine containing protein (FMRpolyG)-positive inclusions in ovarian tissue?Ovaries of a woman with FXPOI and of an Fmr1 premutation (PM) mouse model (exCGG-KI) contain intranuclear inclusions that ...
Buijsen RA +9 more
europepmc +8 more sources
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency [PDF]
European Journal of Human Genetics, 2011 Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian ...
Jacquemont, Sebastien +4 more
openaire +6 more sources
miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis
Non-coding RNA Research, 2021 FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy +7 more
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