A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene. (Q54646120)

2 June 2018

title

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

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2 June 2018

author name string

Van Khanh Tran

1

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2 June 2018

Zhujun Zhang

2

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2 June 2018

Mariko Yagi

3

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2 June 2018

Atsushi Nishiyama

4

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2 June 2018

Yasuaki Habara

5

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2 June 2018

Yasuhiro Takeshima

6

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2 June 2018

Masafumi Matsuo

7

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2 June 2018

publication date

30 August 2005

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2 June 2018

Journal of Human Genetics

published in

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2 June 2018

volume

50

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2 June 2018

issue

8

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2 June 2018

page(s)

425-433

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2 June 2018

Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-005-0272-6

Physical Isolation of Nascent RNA Chains Transcribed by RNA Polymerase II: Evidence for Cotranscriptional Splicing

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-005-0272-6

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-005-0272-6

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs

21 January 2018

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12 December 2020

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

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12 December 2020

Detection and evaluation of intron retention events in the human transcriptome.

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12 December 2020

The regulation of splice-site selection, and its role in human disease

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12 December 2020

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

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12 December 2020

A novel dystrophin isoform is required for normal retinal electrophysiology

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

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

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12 December 2020

The structural and functional diversity of dystrophin

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12 December 2020

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

1 reference

12 December 2020

Deletions in the 5' region of dystrophin and resulting phenotypes

1 reference

12 December 2020

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

12 December 2020

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

1 reference

12 December 2020

Multiple splicing defects in an intronic false exon

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

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12 December 2020

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

1 reference

12 December 2020

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

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12 December 2020

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

1 reference

12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternative splicing of dystrophin exon 4 in normal human muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

1 reference

12 December 2020

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

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12 December 2020

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

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12 December 2020

X-linked dilated cardiomyopathy and the dystrophin gene

1 reference

12 December 2020

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

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

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12 December 2020

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

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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

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12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

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

Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy

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

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

1 reference

12 December 2020

Small molecule control of pre-mRNA splicing

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12 December 2020

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

12 December 2020

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene

1 reference

12 December 2020

A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy

1 reference

12 December 2020

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

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

10.1007/S10038-005-0272-6

Identifiers

DOI

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2 June 2018

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2 June 2018