Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. - Wikidata - wikimedia - TriplyDB

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

http://www.wikidata.org/entity/Q34221402

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The Dystrophin Complex: Structure, Function, and Implications for Therapy Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Conserved regions of the DMD 3' UTR regulate translation and mRNA abundance in cultured myotubes A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.FUBP1: a new protagonist in splicing regulation of the DMD gene Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27 Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.Circulating Biomarkers for Duchenne Muscular Dystrophy.Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Translational development of splice-modifying antisense oligomers.Normal and altered pre-mRNA processing in the DMD gene.Optimal classification for the diagnosis of duchenne muscular dystrophy images using support vector machines.Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Genetic profile of Brazilian patients with dystrophinopathies.Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Clinical Utility Gene Card for: Becker muscular dystrophy.Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

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Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

http://www.wikidata.org/entity/Q34221402

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2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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Alan Pestronk

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Andrew von Niederhausern

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Brenda Wong

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Carsten G Bonnemann

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Christine B Anderson

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Diane M Dunn

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Jacinda B Sampson

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Jerry R Mendell

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John W Day

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Julaine M Florence

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P2860

Positive selection acting on splicing motifs reflects compensatory evolution

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

Unusual intron conservation near tissue-regulated exons found by splicing microarrays.

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

Comparative analysis of the human dystrophin and utrophin gene structures

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

Alternative splicing of the fibronectin EIIIB exon depends on specific TGCATG repeats.

Rapid direct sequence analysis of the dystrophin gene

Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing.

Deciphering the splicing code.

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10.1002/HUMU.21426

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3

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32

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Kevin M. Flanigan

Craig M. McDonald

Payam Soltanzadeh

Katherine Mathews

Kathryn J Swoboda

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2011-03-01T00:00:00Z

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51692298

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21972111

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3724403

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