An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. - Wikidata - awgldk - TriplyDB

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

http://www.wikidata.org/entity/Q45855863

about

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications Asyn-anticonformational difference allows SRSF2 to recognize guanines and cytosines equally well Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development RNA and disease Antagonistic factors control the unproductive splicing of SC35 terminal intron.RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish.Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.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 An intronic element contributes to splicing repression in spinal muscular atrophy.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.RNA processing and mRNA surveillance in monogenic diabetes.The incredible complexity of RNA splicing.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.hnRNP A1: the Swiss army knife of gene expression.Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms.Alternative splicing as a biomarker and potential target for drug discovery.RNA mis-splicing in disease.Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.Random Splicing of Several Exons Caused by a Single Base Change in the Target Exon of CRISPR/Cas9 Mediated Gene Knockout.Targeting Splicing in the Treatment of Human Disease Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.Normal and altered pre-mRNA processing in the DMD gene.Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.Clinical Utility Gene Card for: Becker muscular dystrophy.Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension

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P2860

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

http://www.wikidata.org/entity/Q45855863

description

2006 nî lūn-bûn

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2006年の論文

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name

An exon skipping-associated no ...... ntagonistic splicing elements.

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An exon skipping-associated no ...... ntagonistic splicing elements.

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An exon skipping-associated no ...... ntagonistic splicing elements.

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An exon skipping-associated no ...... ntagonistic splicing elements.

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An exon skipping-associated no ...... ntagonistic splicing elements.

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Human Molecular Genetics

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An exon skipping-associated no ...... ntagonistic splicing elements.

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A Disset

http://www.w3.org/2001/XMLSchema#string

J Stevenin

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M Claustres

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N Benmalek

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P2860

RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing

HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing

Sorting out the complexity of SR protein functions

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta

A combinatorial code for splicing silencing: UAGG and GGGG motifs

Mechanisms of alternative pre-messenger RNA splicing

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999-1013

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10.1093/HMG/DDL015

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6

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15

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Cyril F Bourgeois

Sylvie Tuffery-Giraud

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2006-02-06T00:00:00Z

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7313602

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