(Q62583358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541274%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541274%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

main subject

nasal epithelial cell

1 reference

1 reference

2

1 reference

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20 October 2019

Manfred Stuhrmann

3

1 reference

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20 October 2019

author name string

Will K

1

1 reference

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20 October 2019

von der Hardt H

4

1 reference

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20 October 2019

Ellemunter H

5

1 reference

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20 October 2019

Tümmler B

6

1 reference

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20 October 2019

Schmidtke J

7

1 reference

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20 October 2019

publication date

1 January 1995

1 reference

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20 October 2019

1 reference

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20 October 2019

volume

5

1 reference

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20 October 2019

issue

3

1 reference

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20 October 2019

page(s)

210-220

1 reference

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Ribosome gymnastics--degree of difficulty 9.5, style 10.0.

20 October 2019

cites work

1 reference

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7 January 2021

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

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7 January 2021

Sex-lethal, a Drosophila sex determination switch gene, exhibits sex-specific RNA splicing and sequence similarity to RNA binding proteins

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7 January 2021

Developmentally regulated expression of an exon containing a stop codon in the gene for glutamic acid decarboxylase

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7 January 2021

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

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7 January 2021

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

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7 January 2021

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1 reference

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7 January 2021

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

1 reference

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7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Altered regulation of airway epithelial cell chloride channels in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

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7 January 2021

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Alternative splicing generates a secreted form of N-CAM in muscle and brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

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7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

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7 January 2021

Quantitation of mRNA by the kinetic polymerase chain reaction assay: A tool for monitoring P-glycoprotein gene expression

1 reference

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7 January 2021

Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5' splice site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

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

1 reference

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7 January 2021

Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050305

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541274%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference