(Q41936967)

English

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

scientific article published on 31 May 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

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

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

author name string

Van Khanh Tran

1

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Yasuhiro Takeshima

2

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Zhujun Zhang

3

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Mariko Yagi

4

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Atsushi Nishiyama

5

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Yasuaki Habara

6

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Masafumi Matsuo

7

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

language of work or name

0 references

publication date

31 May 2006

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

43

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

12

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

924-930

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Rescue of dystrophin mRNA of Duchenne muscular dystrophy by inducing exon skipping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Terminal antisense oligonucleotide modifications can enhance induced exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 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=2563197

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 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=2563197

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Polypurine sequences within a downstream exon function as a splicing enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 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=2563197

5 June 2018

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

5 June 2018

Point mutations 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=2563197

5 June 2018

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563197

18 August 2018

Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/16738009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16738009

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/16738009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16738009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of exonic splicing enhancer elements in human genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16738009

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/16738009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/16738009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.042317

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

ResearchGate publication ID

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