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Article

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

The Journal of clinical investigation - 1 Dec 1993

Rolfini R, Cabrini G

Abstract excerpt

Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. CF gene expression was found absent in respiratory tissues with mutations R553X and W1316X, which led...

Topics

Amino Acid Sequence
Base Sequence
Colonic Neoplasms
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Primers
DNA, Complementary
Epithelium
Female
Gene Expression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Leukocytes

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Nasal Polyps

Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 7504691
DOI: 10.1172/JCI116885
PMCID: PMC288466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7504691-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.PMID 7504691Read ↗

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.Semantic proximity Read ↗

Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.Semantic proximity Read ↗

Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.Semantic proximity Read ↗

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.Semantic proximity Read ↗

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.Semantic proximity Read ↗

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

Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis.Semantic proximity Read ↗

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Semantic proximity Read ↗

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.Semantic proximity Read ↗

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.Semantic proximity Read ↗

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

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.Semantic proximity Read ↗

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