Results 1 to 10 of about 2,751,167 (169)
CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons [PDF]
Cell ReportsSummary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois +11 more
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Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction [PDF]
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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Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon [PDF]
BMC Genetics, 2020 Background The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP.
Wen-jing Yang +8 more
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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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Epigenetic Aberration of FMR1 Gene in Infertile Women with Diminished Ovarian Reserve [PDF]
Cell Journal, 2018 Objective The diminished ovarian reserve (DOR) is a condition characterized by a reduction in the number and/or quality of oocytes. This primary infertility disorder is usually accompanied with an increase in the follicle-stimulating hormone (FSH ...
Hossein Eslami +8 more
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Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene [PDF]
Cell, 2018 Charles H Li, Hao Wu, Rudolf Jaenisch
exaly +2 more sources
Molecular Therapy: Methods & Clinical Development, 2022 Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang +12 more
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Rare FMR1 Gene Mutations Causing Fragile X Syndrome: A Review [PDF]
American Journal of Medical Genetics, Part A, 2018 Randi J. Hagerman +2 more
exaly +2 more sources
Bone Research, 2023 Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale +14 more
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Cells, 2021 Fragile X syndrome (FXS) is the most common inherited cause of autism and intellectual disability. The majority of FXS cases are caused by transcriptional repression of the FMR1 gene due to epigenetic changes that are not recapitulated in current animal ...
Jack F. V. Hunt +8 more
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