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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FMR1 promotes the progression of colorectal cancer cell by stabilizing EGFR mRNA in an m6A-dependent manner [PDF]
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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Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models [PDF]
Molecular AutismBackground Fragile X syndrome (FXS) is the most common inherited intellectual disability, caused by the loss of fragile X mental retardation protein (FMRP), which regulates neuronal signaling and plasticity.
Evangelia Pollali +7 more
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Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation [PDF]
Stem Cell Reports, 2014 Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch +14 more
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Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC [PDF]
Journal of Translational MedicineBackground Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric ...
Yiqian Han +8 more
doaj +2 more sources
BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"? [PDF]
PLoS ONE, 2012 BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer +6 more
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Development and validation of a single‐tube multiplex PCR for rapid screening of Fragile X and Fragile XE syndromes of FMR1 and FMR2 genes [PDF]
Songklanakarin Journal of Science and Technology (SJST), 2021 Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the expansion of a trinucleotide repeat in the FMR1 and FMR2 genes, respectively.
Areerat Hnoonual +3 more
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Mathematical Biosciences and Engineering, 2022 WW domain-containing transcription regulator 1 (TAZ, or WWTR1) and Yes-associated protein 1 (YAP) are both important effectors of the Hippo pathway and exhibit different functions.
Sufang Wu +7 more
doaj +1 more source
Current Research in Toxicology, 2020 Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life ...
Lauren Matelski +5 more
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Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]
, 2014 BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul +5 more
core +6 more sources