Fibroblast phenotype in male carriers of FMR1 premutation alleles
about
Unstable mutations in the FMR1 gene and the phenotypesTranscription-associated R-loop formation across the human FMR1 CGG-repeat regionFragile X: leading the way for targeted treatments in autism.CGG repeat in the FMR1 gene: size mattersEvidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndromeCNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.Advances in understanding the molecular basis of FXTASMouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeGenomic studies in fragile X premutation carriers.Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.Clinical and molecular implications of mosaicism in FMR1 full mutations.RNA-protein interactions in unstable microsatellite diseases.CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndromeMolecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersCGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTASA Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS.Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.FMR1 premutation and full mutation molecular mechanisms related to autism.RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndromeCurrent Gaps in Understanding the Molecular Basis of FXTASTARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROMENeurodegeneration the RNA wayFragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.Developments in RNA splicing and disease.Importance of gene dosage in controlling dendritic arbor formation during development.Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies.Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1.The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.
P2860
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P2860
Fibroblast phenotype in male carriers of FMR1 premutation alleles
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@ast
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@en
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
@nl
type
label
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@ast
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@en
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
@nl
prefLabel
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@ast
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@en
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
@nl
P2093
P2860
P356
P1476
Fibroblast phenotype in male carriers of FMR1 premutation alleles
@en
P2093
Allison M Sumis
Anna Ludwig
Christine Iwahashi
Claudia Greco
Danh V Nguyen
Dolores Garcia-Arocena
Elizabeth M Berry-Kravis
Erin Howell
Flora Tassone
Jane E Yang
P2860
P304
P356
10.1093/HMG/DDP497
P577
2009-10-28T00:00:00Z