Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
about
Drug treatment for myotoniaDrug treatment for myotoniaMuscleblind proteins regulate alternative splicingInteraction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicingCELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicingMBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophyIdentification of CELF splicing activation and repression domains in vivoMuscle channelopathies and critical points in functional and genetic studies.Chloride channels as drug targets.Coordinate regulation of mRNA decay networks by GU-rich elements and CELF1ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivoThe pathobiology of splicingIdentification and functional characterization of a voltage-gated chloride channel and its novel splice variant in taste bud cellsComparative genomics and molecular dynamics of DNA repeats in eukaryotesElevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophyAndrogen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in modelCorrection of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophyFinding signals that regulate alternative splicing in the post-genomic eraHnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.Congenital and childhood myotonic dystrophy: Current aspects of disease and future directionsThe importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteinsDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyEmerin interacts in vitro with the splicing-associated factor, YT521-BAlternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinaseStudying a Drug-like, RNA-Focused Small Molecule Library Identifies Compounds That Inhibit RNA Toxicity in Myotonic DystrophyEvaluating the effects of CELF1 deficiency in a mouse model of RNA toxicityTailoring of membrane proteins by alternative splicing of pre-mRNA.The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicingTherapeutics development in myotonic dystrophy type 1.New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeatsThe alternative heart: impact of alternative splicing in heart disease.RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophyUltrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model micePKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.
P2860
Q24244905-96FAC1F3-2594-4CC7-8DE4-6E701A523421Q24247351-3D02AE56-DEC5-417D-B748-140BE8A6C459Q24299521-B96B503B-1A90-4A30-9CD3-8F053A45798BQ24301335-B5AA6BA7-6BF1-4642-A4B5-BB1EEA7DB4C9Q24307363-E3F68695-AF8B-4510-95CF-D4A454515707Q24311381-8FE536FE-4D2A-4872-8C0A-4429C70298ADQ24337657-93505EF9-912B-4A11-824B-4ACE8BAFD002Q24527266-830DBF4A-705F-43E0-8192-308771828B2CQ24532297-54951968-C2CB-4921-AB83-DFE92EB03A44Q24601830-4B1104A6-998E-4AD7-8D17-AF90E6CED7EFQ24626214-585A3BDC-44FD-4BE0-AA7F-DFD5FE48679BQ24633700-985ED239-B20A-4A2A-8028-994E46930C7EQ24634680-F594C61E-54AF-42A5-AB0C-6772926DE9DDQ24646771-34BCA259-668F-4FD5-9DC6-C76D05134C21Q24650948-FB950FC7-AB35-4BFA-B22C-B240BCA506C5Q24670706-32449036-7F57-4BD2-9356-3B2709C4D846Q24673304-AA74B9B0-0D79-41D8-9BAC-6596845C9089Q24679378-5A9B5D5F-A050-4DDB-A3FA-E492C85FF8D9Q24806394-392FCDC9-366D-40D0-9C1A-F038D73FCC8AQ24812815-F0422F85-029D-42A3-9AD6-CAAFDBCAA1B0Q26777206-FD013679-237E-4C84-A731-840A3782189BQ26823119-26CB625A-83C3-487D-AC69-FD4EE94B710FQ28086820-F48D6792-5EC2-4F53-A8A6-F678E416C4FEQ28205048-2285F5C9-67BE-4E11-AE49-A3A1C9B7E1DCQ28244232-DDDA4A1E-752E-403C-BF32-15C463D94D08Q28293693-6C47DBE7-54C9-405F-B868-F76170AE62D1Q28306183-1F2ED8A6-A872-42D4-9E21-8DFC207A9948Q28646933-202B569D-EF95-48D8-94A9-67D53A8B1C5FQ28830592-F51ED745-3381-40C0-AEF2-B856DF1896E6Q30408570-C1F00CA5-CAEB-46BE-811C-4626706D2601Q30418167-FDB8BD94-9A6C-4958-B577-A6CAC6079C35Q30424920-E73EDF09-1051-498C-9868-02EA2CBDB68AQ30425796-763308F9-B40D-481D-95D1-F7A62A8EE21CQ30427374-39CB2555-A804-41A2-84B0-267B8CD0B929Q30432053-134338F8-0C13-4A57-8032-43DF3E0631F1Q30435396-2FB979EC-469A-4254-8CF2-765A7333EB9EQ30435398-650EF5CE-09CC-4648-B883-5B97CF2ACE61Q30441256-8F0D386C-2F32-4709-AFB8-73EEFB18F0C0Q30452003-0A772F4F-4E97-4282-B40E-A6E33E73DC22Q30492100-4235E1BC-31BC-4FE2-9363-0B45F4C89626
P2860
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Loss of the muscle-specific ch ...... egulated alternative splicing.
@ast
Loss of the muscle-specific ch ...... egulated alternative splicing.
@en
Loss of the muscle-specific ch ...... egulated alternative splicing.
@nl
type
label
Loss of the muscle-specific ch ...... egulated alternative splicing.
@ast
Loss of the muscle-specific ch ...... egulated alternative splicing.
@en
Loss of the muscle-specific ch ...... egulated alternative splicing.
@nl
prefLabel
Loss of the muscle-specific ch ...... egulated alternative splicing.
@ast
Loss of the muscle-specific ch ...... egulated alternative splicing.
@en
Loss of the muscle-specific ch ...... egulated alternative splicing.
@nl
P2093
P1433
P1476
Loss of the muscle-specific ch ...... egulated alternative splicing.
@en
P2093
Anne V Philips
Elizabeth A Grice
Gopal Singh
Nicolas Charlet-B
Rajesh S Savkur
Thomas A Cooper
P356
10.1016/S1097-2765(02)00572-5
P577
2002-07-01T00:00:00Z