ArticleThe EMBO journal1991
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
Article in The EMBO journal, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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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Who cites it
34 citing papers in PubMed, 137 citations in OpenAlex.
- Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus.The Journal of clinical investigation · 1999Trial
- Identified five variants in CFTR gene that alter RNA splicing by minigene assay.Frontiers in genetics · 2025Article
- CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.JCI insight · 2022Article
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- Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Human mutation · 2021Article
- Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.PLoS genetics · 2020Article
- The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.Molecular and cellular pediatrics · 2018Review
- The magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurements.PloS one · 2017Article
- CFTR Modulator Therapies in Pediatric Cystic Fibrosis: Focus on Ivacaftor.Expert opinion on orphan drugs · 2016Article
- Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.Critical care (London, England) · 2016Article
- Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.American journal of physiology. Lung cellular and molecular physiology · 2016Article
- Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Genome research · 2015Article
- The cystic fibrosis gene: a molecular genetic perspective.Cold Spring Harbor perspectives in medicine · 2013Review
- In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands.PloS one · 2013Article
- Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.Critical care medicine · 2012Article
- The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.Asian journal of andrology · 2012Article
- CFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and Nanjing.Nagoya journal of medical science · 2012Article
- CFTR expression from a BAC carrying the complete human gene and associated regulatory elements.Journal of cellular and molecular medicine · 2009Article
- Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.The Journal of molecular diagnostics : JMD · 2004Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The predicted protein domains coded by exons 9-12 and 19-23 of the 27 exon cystic fibrosis transmembrane conductance regulator (CFTR) gene contain two putative nucleotide-binding fold regions. Analysis of CFTR mRNA transcripts in freshly isolated bronchial epithelium from 12 normal adult individuals demonstrated that all had some CFTR mRNA transcripts with exon 9 completely deleted (exon 9- mRNA transcripts). In most (9 of 12), the exon 9- transcripts represented less than or equal to 25% of the total CFTR transcripts. However, in three individuals, the exon 9- transcripts were more abundant, comprising 39, 62 and 66% of all CFTR transcripts. Re-evaluation of the same individuals 2-4 months later showed the same proportions of exon 9- transcripts. Of the 24 CFTR alleles in the 12 individuals, the sequences of the exon-intron junctions relevant to exon 9 deletion (exon 8-intron 8, intron 8-exon 9, exon 9-intron 9, and intron 9-exon 10) were identical except for the intron 8-exon 9 region sequences. Several individuals had varying lengths of a TG repeat in the region between splice branch and splice acceptor consensus sites. Interestingly, one allele in each of the two individuals with 62 and 66% exon 9- transcripts had a TT deletion in the splice acceptor site for exon 9. These observations suggest either the unlikely possibility that sequences in exon 9 are not critical for the functioning of the CFTR or that only a minority of the CFTR mRNA transcripts need to contain exon 9 sequences to produce sufficient amounts of a normal CFTR to maintain a normal clinical phenotype.
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