Results 11 to 20 of about 815 (125)

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) [PDF]

Journal of Clinical Medicine, 2022
Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that
Estefania Martínez-Barrios, Laia Rodriguez-Revenga, Goday Anna   +2 more
exaly   +5 more sources

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
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 ...
Hazel Stewart, Nicolas Charlet, Gracjan Michlewski   +2 more
exaly   +5 more sources

The Diagnostic Experience of Women With Fragile X–Associated Primary Ovarian Insufficiency (FXPOI) [PDF]

Journal of Assisted Reproduction and Genetics, 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
Heather Hipp, Stephanie L Sherman, Cecelia A. Bellcross   +2 more
exaly   +4 more sources

Women’s Healthcare Providers’ Knowledge and Practices Surrounding Fragile-X Associated Primary Ovarian Insufficiency (FXPOI) [PDF]

Journal of Assisted Reproduction and Genetics
This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis.
Heather Hipp, Emily Graves Allen, Alexandra L Singleton   +2 more
exaly   +4 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, He Zhu, Shuying Wu, Manhua Cui, Tianmin Xu   +4 more
doaj   +2 more sources

Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency [PDF]

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, Anne Caroline Wheeler, Melissa eRaspa, Annette eGreen, Ellen eBishop, Carla eBann, Anne eEdwards, Donald B Bailey   +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, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
doaj   +2 more sources

CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules.

PLoS ONE, 2016
CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome ...
René Rovozzo, George Korza, Mei W Baker, Meng Li, Anita Bhattacharyya, Elisa Barbarese, John H Carson   +6 more
doaj   +2 more sources

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

Frontiers in Molecular Biosciences, 2020
The X-linked FMR1 premutation (PM) is characterized by a 55–200 CGG triplet expansion in the 5′-untranslated region (UTR). Carriers of the PM were originally thought to be asymptomatic; however, they may present general neuropsychiatric manifestations ...
Eleonora Napoli, Yingratana Amabel McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman, Cecilia Giulivi, Cecilia Giulivi   +9 more
doaj   +3 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj   +2 more sources