Results 21 to 30 of about 18,012 (216)
Aging in Individuals With the FMR1 Mutation [PDF]
American Journal on Mental Retardation, 2004 Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia ...
S, Jacquemont +12 more
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Scientific Reports, 2023 Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene are linked to Fragile X Syndrome, the most common monogenic cause of intellectual disability and autism. People affected with mutations in FMR1 have higher incidence of obesity, but the
Rebecca E. Ruggiero-Ruff +6 more
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FMR1 and Autism, an Intriguing Connection Revisited [PDF]
Genes, 2021 Autism Spectrum Disorder (ASD) represents a distinct phenotype of behavioral dysfunction that includes deficiencies in communication and stereotypic behaviors. ASD affects about 2% of the US population. It is a highly heritable spectrum of conditions with substantial genetic heterogeneity.
William Fyke, Milen Velinov
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Cell Death and Disease, 2022 FMR1, a new m6A reader, is known to be involved in the regulation of cancer progression. However, its role, regulatory mechanism, and clinical significance in colorectal cancer (CRC) are elusive.
Yuhan Hu +12 more
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Frontiers in Endocrinology, 2023 IntroductionMutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability.
Pedro A. Villa +5 more
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Fragile X Premutation: Medications, Therapy and Lifestyle Advice
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
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The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
Neurobiology of Disease, 2006 The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout (Fmr1 KO) allele.
E.J. Mientjes +9 more
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Metabolic Alterations in FMR1 Premutation Carriers [PDF]
Frontiers in Molecular Biosciences, 2020 FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy.
Yiqu Cao +6 more
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Fragile X family members have important and non-overlapping functions
Biomolecular Concepts, 2011 The fragile X family of genes encodes a small family of RNA binding proteins including FMRP, FXR1P and FXR2P that were identified in the 1990s. All three members are encoded by 17 exons and show alternative splicing at the 3′ ends of their respective ...
Winograd Claudia, Ceman Stephanie
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Tau reduction attenuates autism-like features in Fmr1 knockout mice
Molecular Autism, 2023 Background Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the ...
Shanshan Zhao +9 more
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