ArticleThe Journal of clinical investigation1991
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.
Article in The Journal of clinical investigation, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 136 citations in OpenAlex.
- No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.American journal of respiratory cell and molecular biology · 2007Trial
- Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.PloS one · 2025Article
- Mechanism of Genome Editing Tools and Their Application on Genetic Inheritance Disorders.Global medical genetics · 2024Review
- Review
- Assessing the Disease-Liability of Mutations in CFTR.Cold Spring Harbor perspectives in medicine · 2012Article
- CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Journal of medical genetics · 2011Article
- The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.PloS one · 2011Article
- Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator.Expert review of proteomics · 2010Review
- Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.Journal of medical genetics · 2007Article
- Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies.Molecular diagnosis & therapy · 2006Review
- A sensitive, real-time, RNA-specific PCR method for the detection of recombinant AAV-CFTR vector expression.Gene therapy · 2003Article
- Influence of TNFalpha on the sialylation of mucins produced by a transformed cell line MM-39 derived from human tracheal gland cells.Glycoconjugate journal · 2001Article
- Update and Review: Cystic Fibrosis.Journal of genetic counseling · 1999Article
- Novel pharmacologic therapies for cystic fibrosis.The Journal of clinical investigation · 1999Review
- Article
- Cystic fibrosis: channel, catalytic, and folding properties of the CFTR protein.Journal of bioenergetics and biomembranes · 1997Review
- Strategies for correcting the delta F508 CFTR protein-folding defect.Journal of bioenergetics and biomembranes · 1997Review
- Alterations in protein glycosylation in PMA-differentiated U-937 cells exposed to mineral particles.Environmental health perspectives · 1997Article
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.American journal of human genetics · 1997Article
- Nonstop treatment of cystic fibrosis.Nature medicine · 1996Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is the most common, lethal inherited disorder in the Caucasian population. We have recently reported two African-American patients with nonsense mutations in each CF gene and severe pancreatic disease, but mild pulmonary disease. In order to examine the effect of these nonsense mutations on CF gene expression, bronchial and nasal epithelial cells were obtained from one of these patients (no. 246), a compound heterozygote for nonsense mutations R553X and W1316X; a healthy normal individual; a patient (no. 528) homozygous for the common CF mutation (delta F508); and a CF patient (no. 272) who carries the R553X mutation and a missense mutation, S549N. When mRNA from bronchial cells of the normal individual, the delta F508 homozygote, and the S549N/R553X compound heterozygote was reverse transcribed and amplified by polymerase chain reaction using primers derived from the CF gene, DNA fragments of the predicted size were observed. However, patient no. 246 with nonsense mutations in each CF gene has no detectable cystic fibrosis transmembrane conductance regulator (CFTR) messenger RNA, and therefore should have severely diminished, and possibly absent, CFTR protein. Furthermore, less than 2% of the CFTR transcripts in nasal epithelial cells from patient no. 272 (S549N/R553X) were derived from the gene with the nonsense mutation. We conclude that severe reduction in CFTR mRNA causes CF, but can have different consequences in the lung and pancreas.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.