(Q80501561)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Zhujun Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Yasuaki Habara

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Atsushi Nishiyama

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Yoshinobu Oyazato

4

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1 January 2020

Mariko Yagi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Yasuhiro Takeshima

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Masafumi Matsuo

7

1 reference

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1 January 2020

publication date

20 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

1 January 2020

published in

1 reference

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1 January 2020

volume

52

1 reference

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1 January 2020

issue

7

1 reference

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1 January 2020

page(s)

607-617

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10038-007-0163-0

1 January 2020

exact match

0 references

cites work

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

1 reference

12 December 2020

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

12 December 2020

Fewer Genes, More Noncoding RNA

1 reference

12 December 2020

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

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12 December 2020

Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

1 reference

12 December 2020

Multiple splicing defects in an intronic false exon

1 reference

12 December 2020

Sequence conservation, relative isoform frequencies, and nonsense-mediated decay in evolutionarily conserved alternative splicing

1 reference

12 December 2020

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis

1 reference

12 December 2020

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

1 reference

12 December 2020

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

The evolving roles of alternative splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

Finding signals that regulate alternative splicing in the post-genomic era

1 reference

12 December 2020

Alternative splicing of dystrophin exon 4 in normal human muscle

1 reference

12 December 2020

Identification and analysis of alternative splicing events conserved in human and mouse

1 reference

12 December 2020

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

1 reference

12 December 2020

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing

1 reference

12 December 2020

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.

1 reference

12 December 2020

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

12 December 2020

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

1 reference

12 December 2020

Dystrophin in frameshift deletion patients with Becker muscular dystrophy

1 reference

12 December 2020

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

1 reference

12 December 2020

Subdivision of large introns in Drosophila by recursive splicing at nonexonic elements

1 reference

12 December 2020

The transcriptional landscape of the mammalian genome

1 reference

12 December 2020

An explanation for the constitutive exon 9 cassette splicing of the DMD gene

1 reference

12 December 2020

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

1 reference

12 December 2020

A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution

1 reference

12 December 2020

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

1 reference

12 December 2020

Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5' region of the dystrophin gene in human skeletal muscle.

1 reference

12 December 2020

An unappreciated role for RNA surveillance

1 reference

12 December 2020

A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene

1 reference

12 December 2020

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy

1 reference

12 December 2020

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

12 December 2020

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

12 December 2020

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

1 reference

12 December 2020

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Generation of alternative Ultrabithorax isoforms and stepwise removal of a large intron by resplicing at exon-exon junctions.

1 reference

12 December 2020

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene.

1 reference

12 December 2020

A new type of mutation causes a splicing defect in ATM.

1 reference

12 December 2020

Silencers regulate both constitutive and alternative splicing events in mammals

1 reference

12 December 2020

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

12 December 2020

An alternative dystrophin transcript specific to peripheral nerve

1 reference

12 December 2020

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

12 December 2020

The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene

1 reference

12 December 2020

Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain

1 reference

12 December 2020

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

12 December 2020

The structural and functional diversity of dystrophin

1 reference

12 December 2020

Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.

1 reference

12 December 2020

Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts

1 reference

12 December 2020

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

12 December 2020

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

12 December 2020

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

1 reference

12 December 2020

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

1 reference

12 December 2020

10.1007/S10038-007-0163-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17579806%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference