Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.
about
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophyInteraction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicingFunctional analysis of the homeodomain protein SIX5.Cooperation of six and eya in activation of their target genes through nuclear translocation of EyaIn vivo co-localisation of MBNL protein with DMPK expanded-repeat transcriptsComparative genomics and molecular dynamics of DNA repeats in eukaryotesMuscle wasting in myotonic dystrophies: a model of premature agingExpanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cellsNew 5'-(CGG)n-3' repeats in the human genomeMice deficient in Six5 develop cataracts: implications for myotonic dystrophySkeletal muscle Na currents in mice heterozygous for Six5 deficiencyHeterozygous loss of Six5 in mice is sufficient to cause ocular cataractsExpression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding siteCytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.Inherited skeletal muscle disorders.DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model.Triplet repeat expansion in neuromuscular disease.Clinical and genetic heterogeneity in myotonic dystrophies.Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation.Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesTandem repeat distribution of gene transcripts in three plant families.Myotonic dystrophy: molecular windows on a complex etiology.RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.Epigenetic mechanisms and genome stability.Myotonic dystrophy: RNA pathogenesis comes into focus.Cancer risk among patients with myotonic muscular dystrophy.Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem CellsCAG/CTG repeats alter the affinity for the histone core and the positioning of DNA in the nucleosome.Alternative splicing and muscular dystrophy.Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.Dnmt1 deficiency promotes CAG repeat expansion in the mouse germlineThe biological effects of simple tandem repeats: lessons from the repeat expansion diseases.RNA-mediated toxicity in neurodegenerative diseasePathogenic mechanisms of myotonic dystrophyMyotonic dystrophy mouse models: towards rational therapy development.Epigenetic changes and non-coding expanded repeats.Partners in crime: bidirectional transcription in unstable microsatellite disease.Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.
P2860
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P2860
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@en
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@nl
type
label
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@en
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@nl
prefLabel
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@en
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@nl
P2093
P2860
P356
P1433
P1476
Expansion of the myotonic dyst ...... on of the flanking DMAHP gene.
@en
P2093
Moxley RT 3rd
Thornton CA
P2860
P2888
P304
P356
10.1038/NG0897-407
P407
P577
1997-08-01T00:00:00Z