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Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.Myotonic dystrophy: is a narrow focus obscuring the rest of the field?Structure of dystrophia myotonica protein kinaseAlternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1)Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).Therapeutics development in myotonic dystrophy type 1.RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophyDevelopment of histone deacetylase inhibitors as therapeutics for neurological diseaseLong tract of untranslated CAG repeats is deleterious in transgenic miceHigh frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.The structural basis of myotonic dystrophy from the crystal structure of CUG repeatsPositional and neighboring base pair effects on the thermodynamic stability of RNA single mismatchesBidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.Structural characterization of naturally occurring RNA single mismatches.Beyond the binding site: in vivo identification of tbx2, smarca5 and wnt5b as molecular targets of CNBP during embryonic development.Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA.Elevated FMR1 mRNA in premutation carriers is due to increased transcription.The muscular dystrophies: from genes to therapies.On the Applicability of Elastic Network Models for the Study of RNA CUG Trinucleotide Repeat Overexpansion.Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.Alternative pre-mRNA splicing in the human system: unexpected role of repetitive sequences as regulatory elements.Reduction of the rate of protein translation in patients with myotonic dystrophy 2Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.Why our patients (and we) need basic science researchA Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeatRNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases.Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patientsAltered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice.RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases.Regulation of mammalian pre-mRNA splicing.Targeting RNA to treat neuromuscular disease.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Myotonic dystrophy: RNA pathogenesis comes into focus.
@ast
Myotonic dystrophy: RNA pathogenesis comes into focus.
@en
type
label
Myotonic dystrophy: RNA pathogenesis comes into focus.
@ast
Myotonic dystrophy: RNA pathogenesis comes into focus.
@en
prefLabel
Myotonic dystrophy: RNA pathogenesis comes into focus.
@ast
Myotonic dystrophy: RNA pathogenesis comes into focus.
@en
P2860
P356
P1476
Myotonic dystrophy: RNA pathogenesis comes into focus.
@en
P2093
John W Day
Laura P W Ranum
P2860
P304
P356
10.1086/383590
P407
P577
2004-04-02T00:00:00Z