(Q34141568)

English

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

cystic fibrosis

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transmembrane protein

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Thomas Meitinger

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

2

object named as

Dörk T

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Will K

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Stuhrmann M

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Bertele-Harms R

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Tümmler B

6

1 reference

Europe PubMed Central

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31 July 2017

Schmidtke J

7

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Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

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publication date

1 April 1994

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Europe PubMed Central

PubMed publication ID

31 July 2017

Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

31 July 2017

93

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1852-1859

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

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=294265

5 July 2018

On/off regulation of gene expression at the level of splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Effect of 5' splice site mutations on splicing of the preceding intron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Vectorette PCR: a novel approach to genomic walking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

In vivo splicing of the beta tropomyosin pre-mRNA: a role for branch point and donor site competition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

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=294265

5 July 2018

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

5 July 2018

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

The protein Sex-lethal antagonizes the splicing factor U2AF to regulate alternative splicing of transformer pre-mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294265

28 October 2018

The organization of 3' splice-site sequences in mammalian introns

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing in the first nucleotide binding fold of CFTR

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal mRNA splicing resulting from three different mutations in the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered regulation of airway epithelial cell chloride channels in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7512993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117172

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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