Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation (Q34166299)

31 July 2017

title

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation (English)

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31 July 2017

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transmembrane protein

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author name string

Malka Nissim-Rafinia

1

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31 July 2017

Micha Aviram

2

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31 July 2017

Scott H Randell

3

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31 July 2017

Liat Shushi

4

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31 July 2017

Efrat Ozeri

5

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31 July 2017

Ornit Chiba-Falek

6

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31 July 2017

Ofer Eidelman

7

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31 July 2017

Harvey B Pollard

8

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31 July 2017

James R Yankaskas

9

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31 July 2017

Batsheva Kerem

10

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31 July 2017

publication date

1 November 2004

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31 July 2017

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31 July 2017

volume

5

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31 July 2017

issue

11

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31 July 2017

page(s)

1071-1077

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EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

SCNM1, a putative RNA splicing factor that modifies disease severity in mice

5 July 2018

1 reference

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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Mechanisms of alternative pre-messenger RNA splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Splicing regulation as a potential genetic modifier

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Treatment of spinal muscular atrophy by sodium butyrate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Fluorescent chloride indicators to assess the efficacy of CFTR cDNA delivery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Identification of the cystic fibrosis gene: genetic analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1299168

Correction of disease-associated exon skipping by synthetic exon-specific activators

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400273

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400273

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400273

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400273

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

21 January 2018

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

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

12 December 2020

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

The dopamine transporter gene (SLC6A3) variable number of tandem repeats domain enhances transcription in dopamine neurons

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400273

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/SJ.EMBOR.7400273

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31 July 2017

1 reference

31 July 2017

1 reference