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Article

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

Genomics - 15 Jan 1994

Hull J, Shackleton S, Harris A

Abstract excerpt

Stop or nonsense mutations are known to disrupt gene function in a number of different ways. We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Four patients who were compound heterozygotes for the R553X mutation were studied. Ten non-CF control subjects were also studied. In all...

Topics

Alleles
Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exons
Frameshift Mutation
Gene Frequency
Genes
Heterozygote
Humans
Membrane Proteins
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

RNA, Messenger

Transcription, Genetic

Source

Identifiers

PMID: 7514569
DOI: 10.1006/geno.1994.1070

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7514569-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Click a neighbor to travelStep 1 · 12 closest

The stop mutation R553X in the CFTR gene results in exon skipping.PMID 7514569Read ↗

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

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 ↗

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

A cystic fibrosis patient homozygous for the nonsense mutation R553X.Semantic proximity Read ↗

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.Semantic proximity Read ↗

Open reading frame correction using antisense oligonucleotides for the treatment of cystic fibrosis caused by CFTR-W1282XSemantic proximity Read ↗

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

Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis.Semantic proximity Read ↗

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.Semantic proximity Read ↗

In-frame elimination of exon 10 in Cftrtm1Unc CF mice.Semantic proximity Read ↗

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