Evidence for a fragile X messenger ribonucleoprotein 1 ( FMR1 ) mRNA gain‐of‐function toxicity mechanism contributing to the pathogenesis of fragile X‐associated premature ovarian insufficiency [PDF]
FASEB Journal, 2022 Abstract Fragile X‐associated premature ovarian insufficiency (FXPOI) is among a family of disorders caused by expansion of a CGG trinucleotide repeat sequence located in the 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene on the X chromosome.
Roseanne Rosario +2 more
exaly +5 more sources
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea [PDF]
Reproductive Biology and EndocrinologyBackground Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI).
Bárbara Rodrigues +10 more
doaj +3 more sources
Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome [PDF]
Frontiers in Genetics, 2019 Fragile X syndrome (FXS) is the most common congenital hereditary disease of low intelligence after Down syndrome. Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X ...
Ge Huang +4 more
doaj +2 more sources
Frontiers in Genetics, 2014 Recently, research has indicated an increased risk for greater medical and emotional comorbidity and physical health symptoms among women with an FMR1 expansion.
Anne Caroline Wheeler +7 more
doaj +2 more sources
FMRpolyG accumulates in FMR1 premutation granulosa cells
Journal of Ovarian Research, 2020 Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas +7 more
doaj +2 more sources
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
doaj +2 more sources
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI) [PDF]
Menopause, 2016 Abstract Objective: Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes,
Heather S Hipp +2 more
exaly +3 more sources
Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation [PDF]
Frontiers in Psychiatry, 2021 Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Emily Graves Allen +8 more
doaj +2 more sources
Human Reproduction, 2021 Abstract Study question Does repeat-associated non-AUG (RAN) translation lead to accumulation of polyglycine- containing protein (FMRpolyG) in human lymphocytes and mural granulosa cells of FMR1 premutation carriers?
K Hinderhofer, Strowitzki T
exaly +2 more sources
Social and physical predictors of mental health impact in adult women who have an FMR1 premutation [PDF]
Genetics in Medicine Open, 2023 Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare.
Claudine M. Kraan +9 more
doaj +2 more sources