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Article

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 Jul 2000

Abstract excerpt

In monosymptomatic forms of cystic fibrosis such as congenital bilateral absence of vas deferens, variations in the TG(m) and T(n) polymorphic repeats at the 3' end of intron 8 of the cystic fibrosis transmembrane regulator (CFTR) gene are associated with the alternative splicing of exon 9, which results in a nonfunctional CFTR protein. Using a minigene model system, we have previously shown a direct relationship...

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Identifiers

PMID: 10766763
DOI: 10.1074/jbc.m910165199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic ElementPMID 10766763Read ↗

Functional Analysis of cis-Acting Elements Regulating the Alternative Splicing of Human CFTR Exon 9Semantic proximity Read ↗

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

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).Semantic proximity Read ↗

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.Semantic proximity Read ↗

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.Semantic proximity Read ↗

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.Semantic proximity Read ↗

Skipping of exon 9 of human CFTR in YAC-transgenic mice.Semantic proximity Read ↗

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.Semantic proximity Read ↗

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.Semantic proximity Read ↗

Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease PenetranceSemantic 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 ↗

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