(Q45855863)

English

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

scientific article published on 6 February 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

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

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

Cyril F Bourgeois

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

Sylvie Tuffery-Giraud

object named as

Sylvie Tuffery-Giraud

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

author name string

A Disset

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

N Benmalek

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

M Claustres

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

J Stevenin

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

publication date

6 February 2006

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

15

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

999-1013

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

Function of alternative splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Pre-mRNA splicing: awash in a sea of proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

A computational analysis of sequence features involved in recognition of short introns

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Mechanisms of alternative pre-messenger RNA splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Influence of RNA secondary structure on the pre-mRNA splicing process

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Understanding alternative splicing: towards a cellular code

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Sorting out the complexity of SR protein functions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Silencers regulate both constitutive and alternative splicing events in mammals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Dystrophin and muscular dystrophy: past, present, and future

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Rapid direct sequence analysis of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Up-regulation of the ubiquitous alternative splicing factor Tra2beta causes inclusion of a germ cell-specific exon

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

The cap-to-tail guide to mRNA turnover

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

BRCA2 T2722R is a deleterious allele that causes exon skipping

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Heterogeneous ribonucleoprotein A1 is part of an exon-specific splice-silencing complex controlled by oncogenic signaling pathways

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

The hnRNP A1 protein regulates HIV-1 tat splicing via a novel intron silencer element.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

SC35 and heterogeneous nuclear ribonucleoprotein A/B proteins bind to a juxtaposed exonic splicing enhancer/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

hnRNP A1 recruited to an exon in vivo can function as an exon splicing silencer

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

hnRNP A/B proteins are required for inhibition of HIV-1 pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Decrease in hnRNP A/B expression during erythropoiesis mediates a pre-mRNA splicing switch

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

A combinatorial code for splicing silencing: UAGG and GGGG motifs

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Exon Identity Established through Differential Antagonism between Exonic Splicing Silencer-Bound hnRNP A1 and Enhancer-Bound SR Proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

A Janus splicing regulatory element modulates HIV-1 tat and rev mRNA production by coordination of hnRNP A1 cooperative binding.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

hnRNP A1 controls HIV-1 mRNA splicing through cooperative binding to intron and exon splicing silencers in the context of a conserved secondary structure

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Tau 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 htra2beta1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Exonic splicing enhancer-dependent splicing of the gonadotropin-releasing hormone premessenger ribonucleic acid is mediated by tra2alpha, a 40-kilodalton serine/arginine-rich protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Cooperative actions of Tra2alpha with 9G8 and SRp30c in the RNA splicing of the gonadotropin-releasing hormone gene transcript

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Human transformer 2beta and SRp55 interact with a calcitonin-specific splice enhancer

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Enhancer-dependent 5'-splice site control of fruitless pre-mRNA splicing.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Direct repression of splicing by transformer-2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

The SR protein SRp38 represses splicing in M phase cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL015

21 January 2018

Identifiers

10.1093/HMG/DDL015

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16461336

ResearchGate publication ID

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