Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
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Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutationThe fragile-X premutation: a maturing perspective.Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effectUnstable mutations in the FMR1 gene and the phenotypesRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersPremutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.From FMRP function to potential therapies for fragile X syndrome.Differential increases of specific FMR1 mRNA isoforms in premutation carriersIdentifying intrinsic and extrinsic determinants that regulate internal initiation of translation mediated by the FMR1 5' leader.Fibroblast phenotype in male carriers of FMR1 premutation allelesCGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Aging in fragile X syndrome.Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.Emerging topics in FXTAS.Clinical and molecular implications of mosaicism in FMR1 full mutations.Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome.Fragile X mental retardation protein expression in Alzheimer's diseaseInitiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanningRare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disordersMouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.Selective executive markers of at-risk profiles associated with the fragile X premutation.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyRepeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Lipoprotein(a): an elusive cardiovascular risk factorAnalysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.RNA-binding protein misregulation in microsatellite expansion disordersA Cdh1-APC/FMRP Ubiquitin Signaling Link Drives mGluR-Dependent Synaptic Plasticity in the Mammalian Brain.Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse modelThe tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersMaternal predictors of anxiety risk in young males with fragile XFragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Neurodegenerative diseases: quantitative predictions of protein-RNA interactions.Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice
P2860
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P2860
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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name
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@en
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@nl
type
label
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@en
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@nl
prefLabel
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@en
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@nl
P2093
P2860
P1476
Fragile X males with unmethyla ...... levels of FMR1 messenger RNA.
@en
P2093
Hagerman PJ
Hagerman RJ
Lachiewicz A
P2860
P304
P356
10.1002/1096-8628(20000918)94:3<232::AID-AJMG9>3.0.CO;2-H
P577
2000-09-01T00:00:00Z