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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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
doaj +3 more sources
In Silico Analysis of FMR1 Gene Missense SNPs [PDF]
Cell Biochemistry and Biophysics, 2016 WOS: 000377830900004PubMed ID: 26880065The FMR1 gene, a member of the fragile X-related gene family, is responsible for fragile X syndrome (FXS). Missense single-nucleotide polymorphisms (SNPs) are responsible for many complex diseases.
Akin Tekcan
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Rare FMR1 gene mutations causing fragile X syndrome: A review [PDF]
American Journal of Medical Genetics, Part A, 2018 Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, typically due to CGG-repeat expansions in the FMR1 gene leading to lack of expression.
Adam F Sitzmann +2 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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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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The association of FMR1 gene (CGG)n variation with idiopathic female infertility [PDF]
Archives of Medical Science, 2019 Introduction The FMR1 gene plays an important role in brain development and in the regulation of ovarian function. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome,
Adele Grasmane +4 more
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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. [PDF]
Genes (Basel), 2022 Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients.
Gómez-Rodríguez MJ +12 more
europepmc +2 more sources
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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Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression. [PDF]
PLoS ONEFragile X Syndrome (FXS) is a genetic disorder caused by increased CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene which encodes an RNA-binding protein that can alter mRNA processing, translation and stability. Among the effects of
Xiaoning Zhao +6 more
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