(Q42807733)

7 November 2017

title

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

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7 November 2017

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transmembrane protein

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author name string

Friedman KJ

1

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7 November 2017

Kole J

2

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7 November 2017

Cohn JA

3

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7 November 2017

Knowles MR

4

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7 November 2017

Silverman LM

5

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7 November 2017

Kole R

6

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7 November 2017

language of work or name

English

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publication date

1 December 1999

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Journal of Biological Chemistry

7 November 2017

published in

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7 November 2017

volume

274

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7 November 2017

issue

51

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7 November 2017

page(s)

36193-36199

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Insight into adenosine receptor function using antisense and gene-knockout approaches

7 November 2017

cites work

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

The spectrum of cystic fibrosis mutations

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

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

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

21 January 2018

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Abnormal RNA processing due to the exon mutation of βE-globin gene

21 January 2018

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Abnormal splice in a mutant human beta-globin gene not at the site of a mutation

21 January 2018

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beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

21 January 2018

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Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

21 January 2018

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Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

A Novel Splicing Junction Mutation in the Gene for the Steroidogenic Acute Regulatory Protein Causes Congenital Lipoid Adrenal Hyperplasia1

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Abnormal splicing of the leptin receptor in diabetic mice

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Correction of the apical membrane chloride permeability defect in polarized cystic fibrosis airway epithelia following retroviral-mediated gene transfer

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

DNA sequencing with dye-labeled terminators and T7 DNA polymerase: effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragments

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Optimization of plasmid vectors for high-level expression in lung epithelial cells

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Characterization of the cystic fibrosis transmembrane conductance regulator in a colonocyte cell line

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Exon recognition in vertebrate splicing

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

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

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

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

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Identification and characterization by antisense oligonucleotides of exon and intron sequences required for splicing

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

21 January 2018

Antisense therapeutics

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

DNA antisense therapy for asthma in an animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.51.36193

21 January 2018

Identifiers

DOI

10.1074/JBC.274.51.36193

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7 November 2017

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