Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene (Q34221402)

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

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scholarly article

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31 July 2017

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

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31 July 2017

Becker muscular dystrophy

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Payam Soltanzadeh

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Payam Soltanzadeh

4

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Anne M Connolly

14

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Craig M. McDonald

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Craig McDonald

20

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Kevin M. Flanigan

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Kevin M Flanigan

1

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Katherine Mathews

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Katherine D Mathews

15

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Kathryn J Swoboda

7

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Kathryn J Swoboda

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31 July 2017

author name string

Diane M Dunn

2

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31 July 2017

Andrew von Niederhausern

3

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31 July 2017

Michael T Howard

5

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31 July 2017

Jacinda B Sampson

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31 July 2017

Mark B Bromberg

8

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31 July 2017

Jerry R Mendell

9

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31 July 2017

Laura E Taylor

10

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31 July 2017

Christine B Anderson

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31 July 2017

Alan Pestronk

12

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31 July 2017

Julaine M Florence

13

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31 July 2017

Brenda Wong

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31 July 2017

Richard S Finkel

17

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31 July 2017

Carsten G Bonnemann

18

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31 July 2017

John W Day

19

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31 July 2017

United Dystrophinopathy Project Consortium

21

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31 July 2017

Robert B Weiss

22

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31 July 2017

publication date

1 March 2011

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31 July 2017

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31 July 2017

32

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3

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31 July 2017

299-308

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31 July 2017

A network of conserved co-occurring motifs for the regulation of alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Rates of in situ transcription and splicing in large human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Co-transcriptional splicing of constitutive and alternative exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

STAR family RNA-binding protein ASD-2 regulates developmental switching of mutually exclusive alternative splicing in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Positive selection acting on splicing motifs reflects compensatory evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Target RNA motif and target mRNAs of the Quaking STAR protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Influence of polymerase II processivity on alternative splicing depends on splice site strength.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Rapid direct sequence analysis of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Comparative analysis of the human dystrophin and utrophin gene structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Alternative Splicing of the Fibronectin EIIIB Exon Depends on Specific TGCATG Repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

A Complex Intronic Splicing Enhancer from the c-src Pre-mRNA Activates Inclusion of a Heterologous Exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 July 2018

Deciphering the splicing code

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

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/10.1002/HUMU.21426

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

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/10.1002/HUMU.21426

21 January 2018

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

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/10.1002/HUMU.21426

21 January 2018

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724403

28 October 2018

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

1 reference

https://api.crossref.org/works/10.1002/HUMU.21426

21 January 2018

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21972111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1002/HUMU.21426

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

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Europe PubMed Central

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31 July 2017

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