(Q37374213)

English

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

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

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 (English)

1 reference

Europe PubMed Central

20 August 2017

author name string

Shiga N

1

1 reference

Europe PubMed Central

20 August 2017

Takeshima Y

2

1 reference

Europe PubMed Central

20 August 2017

Sakamoto H

3

1 reference

Europe PubMed Central

20 August 2017

Inoue K

4

1 reference

Europe PubMed Central

20 August 2017

Yokota Y

5

1 reference

Europe PubMed Central

20 August 2017

Yokoyama M

6

1 reference

Europe PubMed Central

20 August 2017

Matsuo M

7

1 reference

Europe PubMed Central

20 August 2017

language of work or name

0 references

publication date

1 November 1997

1 reference

Europe PubMed Central

20 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

20 August 2017

100

1 reference

Europe PubMed Central

20 August 2017

2204-2210

1 reference

Europe PubMed Central

20 August 2017

9

1 reference

Europe PubMed Central

20 August 2017

Glanzmann thrombasthenia. Cooperation between sequence variants in cis 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=508415

6 September 2017

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

1 reference

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6 September 2017

A complex of nuclear proteins mediates SR protein binding to a purine-rich splicing enhancer

1 reference

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6 September 2017

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

1 reference

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6 September 2017

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

1 reference

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6 September 2017

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=508415

6 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

A splicing enhancer exhibits both constitutive and regulated activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

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=508415

6 September 2017

The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

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=508415

6 September 2017

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

Pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

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=508415

6 September 2017

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

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=508415

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

6 September 2017

The structural and functional diversity of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

14 September 2017

Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

28 September 2017

Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

28 September 2017

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=508415

26 June 2018

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

26 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=508415

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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=508415

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Selective amplification of cDNA sequence from total RNA by cassette-ligation mediated polymerase chain reaction (PCR): application to sequencing 6.5 kb genome segment of hantavirus strain B-1

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26 June 2018

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

2 September 2018

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

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2 September 2018

The role of exon sequences in splice site selection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508415

2 September 2018

Synergistic interactions between two distinct elements of a regulated splicing enhancer.

1 reference

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2 September 2018

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The stop mutation R553X in the CFTR gene results in exon skipping

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/9410897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119757

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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