Keywords: FXS، سندرم ضعیف X; AS, Angelman syndrome; BP, breakpoint; CaN, calcineurin; CBP, CREB-binding protein; CREB, cAMP-response element-binding protein; DNMT, DNA methyltransferases; ERK, extracellular signal-regulated kinase; FXS, Fragile X syndrome; Gdnf, glial cell-derived ne
مقالات ISI FXS، سندرم ضعیف X (ترجمه نشده)
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Fragile X syndrome: Current insight
Keywords: FXS، سندرم ضعیف X; ID, intellectual disability; FXS, fragile X syndrome; FMR1, Fragile X Mental Retardation 1; FMRP, Fragile X Mental Retardation Protein; UTR, untranslated region; PM, premutation; FM, full mutation; DNA, deoxyribo nucleic acid; FXTAS, Fragile X-associated
Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain
Keywords: FXS، سندرم ضعیف X; ASD, autism spectrum disorder; B6, C57Bl/6; DTI, diffusion tensor imaging; FMR1, Fragile X Mental Retardation 1 gene; FMRP, Fragile X Mental Retardation Protein; FXS, Fragile X Syndrome; KO, knock-out; MRI, magnetic resonance imaging; PBS, phosphate-buffe
Hippocampal neuronal subtypes develop abnormal dendritic arbors in the presence of Fragile X astrocytes
Keywords: FXS، سندرم ضعیف X; BSA, bovine serum albumin; E/I, excitatory/inhibitory; FMRP, Fragile X Mental Retardation Protein; FXS, Fragile X syndrome; GAD, glutamate decarboxylase; MAP2, microtubule-associated protein 2astrocyte; neuron; dendrite; arborization; Fragile X; FMRP
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency
Keywords: FXS، سندرم ضعیف X; POI, primary ovarian insufficiency; POF, premature ovarian failure; FSH, follicle-stimulating hormone; FXPOI, Fragile X-associated primary ovarian insufficiency; FMRP, Fragile X mental retardation protein; FXS, Fragile X syndrome; FXTAS, Fragile X-associa
Temperament factor structure in fragile X syndrome: The Children's Behavior Questionnaire
Keywords: FXS، سندرم ضعیف X; CBQ, Children's Behavior Questionnaire; FXS, Fragile X syndrome; CFA, Confirmatory Factor AnalysisTemperament; Fragile X syndrome; Factor analysis
Screening for the presence of FMR1 premutation alleles in women with fibromyalgia
Keywords: FXS، سندرم ضعیف X; FXS, fragile X syndrome; FMR1, fragile X mental retardation 1; DNA, deoxyribonucleic acid; FMRP, fragile X mental retardation protein; FXPOI, fragile X-associated primary ovarian insufficiency; FXTAS, fragile X-associated tremor/ataxia disorder; ACR, Amer
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure
Keywords: FXS، سندرم ضعیف X; FXS, fragile X syndrome; 5′ UTR, 5′-untranslated region; FMR1, fragile X mental retardation gene; FXTAS, fragile X-associated tremor/ataxia syndrome; POI, premature/primary ovarian insufficiency; FMRP, fragile X-mental retardation proteinFMR1 gene; Triple
A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability
Keywords: FXS، سندرم ضعیف X; DD/ID, developmental delay/intellectual disability; aCGH, array comparative genome hybridization; CMA, chromosomal microarray analysis; BAC, bacterial artificial chromosome; INGEMM, Instituto de Genética Médica y Molecular; FXS, fragile X syndrome; MLPA,
Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country
Keywords: FXS، سندرم ضعیف X; FMR1, Fragile X Mental Retardation 1; FXS, Fragile X Syndrome; POF, Premature Ovarian Failure; FSH, Follicle Stimulating HormoneFMR1 gene; Ovarian dysfunction; Premutation; Intermediate alleles; Basque Country
Fmr1 deletion enhances and ultimately desensitizes CB1 signaling in autaptic hippocampal neurons
Keywords: FXS، سندرم ضعیف X; DSE, depolarization-induced suppression of excitation; FXS, Fragile X Syndrome; mGluR, metabotropic glutamate receptor; FMRP, fragile X mental retardation protein; MSE, metabotropic suppression of excitation; 2-AG, 2-arachidonoyl glycerol; EPSC, excitator
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice
Keywords: FXS، سندرم ضعیف X; FMR1, fragile X mental retardation 1 gene; FMRP, fragile X mental retardation protein; mGluR5, metabotropic glutamate receptor 5; FXS, fragile X syndrome; KO, knockout; WT, wild type; LTP, long term potentiation; LTD, long term depression; PPI, prepulse i
The trouble with spines in fragile X syndrome: density, maturity and plasticity
Keywords: FXS، سندرم ضعیف X; Div, days in vitro; EM, electron microscopy; FMRP, fragile X mental retardation protein; FXS, fragile X syndrome; GFP, green fluorescent protein; KO, knockout; L, layer; LTD, long-term depression; LTP, long-term potentiation; mGluR, metabotropic glutamate
Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity
Keywords: FXS، سندرم ضعیف X; fragile X syndrome; premutation carrier; neurodevelopment; vision; RNA toxicityFMRP, fragile X mental retardation protein; FXS, fragile X syndrome; M, magnocellular; mRNA, messenger RNA; P, parvocellular; Tukey HSD, Tukey honestly significant difference
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia
Keywords: FXS، سندرم ضعیف X; FM, full mutation; FRDA, Friedreich ataxia; FS, fragile site; FXDs, Fragile X associated disorders; FXPOI, Fragile X-associated primary ovarian insufficiency; FXTAS, Fragile X-associated tremor and ataxia syndrome; FXS, Fragile X syndrome; PM, premutation
Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders
Keywords: FXS، سندرم ضعیف X; FXD, fragile X-associated disorders; FXTAS, fragile X-associated tremor/ataxia syndrome; FXS, fragile X syndrome; FMR1, fragile X mental retardation gene 1; FMRP, fragile X mental retardation protein; PPI, prepulse inhibition; MRI, magnetic resonance imag
Genetic deletion of regulator of G-protein signaling 4 (RGS4) rescues a subset of fragile X related phenotypes in the FMR1 knockout mouse
Keywords: FXS، سندرم ضعیف X; dKO, double knockout; FMRP, fragile X mental retardation protein; FXS, fragile X syndrome; GAP, GTPase activating protein; GIRK, G-protein coupled inwardly rectifying K+ channel; GPCR, G-protein coupled receptor; KO, knockout; mGluR, metabotropic glutamat
A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis
Keywords: FXS، سندرم ضعیف X; FXS, fragile X syndrome; FXPM, fragile X premutation; FMRP, fragile X mental retardation protein; rCPS, regional cerebral protein synthesis; Fmr1, fragile X mental retardation-1 geneFragile X syndrome; Fragile X premutation; FMRP; Fmr1; Hyperactivity; Anx
Evidence of reactive astrocytes but not peripheral immune system activation in a mouse model of Fragile X syndrome
Keywords: FXS، سندرم ضعیف X; ASDs, autism spectrum disorders; FXS, Fragile X syndrome; Fmr1, fragile X mental retardation 1; FRMP, fragile X mental retardation protein; GFAP, glial fibrillary acidic protein; GSK3, glycogen synthase kinase-3; IFNγ, interferon-γ; IL-6, interleukin-6; L
Testicular and Pituitary Inclusion Formation in Fragile X Associated Tremor/Ataxia Syndrome
Keywords: FXS، سندرم ضعیف X; testes; FMR1 protein; human; Leydig cells; pituitary gland; ataxiaFMR1, fragile X mental retardation 1 gene; FMRP, fragile X mental retardation 1 gene protein; FXS, fragile X syndrome; FXTAS, fragile X tremor/ataxia syndrome; MCP, middle cerebellar pedunc