Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy - Test2 - elhamkhani - TriplyDB

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

http://www.wikidata.org/entity/Q24679378

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MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 The pathobiology of splicing Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions Myotonic dystrophy: is a narrow focus obscuring the rest of the field?RNA protein interaction in neurons Progress toward therapy with antisense-mediated splicing modulation Regulation of vascular endothelial growth factor (VEGF) splicing from pro-angiogenic to anti-angiogenic isoforms: a novel therapeutic strategy for angiogenesis Studying a Drug-like, RNA-Focused Small Molecule Library Identifies Compounds That Inhibit RNA Toxicity in Myotonic Dystrophy RNA and disease Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity Tailoring of membrane proteins by alternative splicing of pre-mRNA.Therapeutics development in myotonic dystrophy type 1.Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.Computational investigation of RNA CUG repeats responsible for myotonic dystrophy 1 Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.Increase in hypotonic stress-induced endocytic activity in macrophages via ClC-3.Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.Therapeutic potential of manipulating VEGF splice isoforms in oncology Splicing biomarkers of disease severity in myotonic dystrophy A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1.RNA-protein interactions in unstable microsatellite diseases.Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients.Targeting nuclear RNA for in vivo correction of myotonic dystrophy Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms.Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.RNA splicing is responsive to MBNL1 dose Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein.Alternative splicing dysregulation secondary to skeletal muscle regeneration.RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.

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Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

http://www.wikidata.org/entity/Q24679378

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2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Journal of Clinical Investigation

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Correction of ClC-1 splicing e ...... e models of myotonic dystrophy

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Charles A Thornton

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John D Lueck

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Robert T Dirksen

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Thurman M Wheeler

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P2860

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

Drug treatment for myotonia

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells

A muscleblind knockout model for myotonic dystrophy

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

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10.1172/JCI33355

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12

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117

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Maurice S. Swanson

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2007-12-01T00:00:00Z

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18008009

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2075481

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