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

doi:10.1136/jmg.30.10.833

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

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

Journal of medical genetics - 1 Oct 1993

Will K, Reiss J, Dean M, Schlösser M, Slomski R, Schmidtke J, Stuhrmann M

Abstract excerpt

In order to analyse the influence of the nonsense mutation R553X on CFTR gene expression, transcripts from epithelial cells and lymphocytes were examined from nine subjects (one CF patient homozygous for R553X, one CF patient compound heterozygous for R553X/delta F508, four CF carriers heterozygous for R553X, one CF carrier with the genotype delta F508/N, and two uncharacterized normal adults). After reverse...

Topics

Adolescent
Adult
Alleles
Child
Codon
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Cytoplasm
DNA, Complementary
Female
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Lymphocytes

Male

Membrane Proteins

Mutation

Nasal Mucosa

Source

Open in PubMed Open full text

Identifiers

PMID: 7693946
DOI: 10.1136/jmg.30.10.833
PMCID: PMC1016565

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7693946-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.PMID 7693946Read ↗

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

The stop mutation R553X in the CFTR gene results in exon skipping.Semantic proximity Read ↗

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

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

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.Semantic proximity Read ↗

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

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.Semantic proximity Read ↗

Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial originSemantic proximity Read ↗

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.