Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.

@article{Ramalho2002FivePO,
  title={Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.},
  author={A. Ramalho and S. Beck and M. Meyer and D. Penque and G. Cutting and M. Amaral},
  journal={American journal of respiratory cell and molecular biology},
  year={2002},
  volume={27 5},
  pages={
          619-27
        }
}
  • A. Ramalho, S. Beck, +3 authors M. Amaral
  • Published 2002
  • Biology, Medicine
  • American journal of respiratory cell and molecular biology
    • Estimates of the level of transcripts from the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene required to develop a CF phenotype range from 4-20% of normal. Due to the importance of obtaining reliable data on this issue for therapeutic strategies, we developed a novel polymerase chain reaction-based method to quantify CFTR transcripts and applied it to the analysis of nasal epithelium RNA of five patients with CF and the 3272-26A>G/F508del genotype. We calculated that 8.2… CONTINUE READING
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    References

    SHOWING 1-10 OF 48 REFERENCES
    The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
    • 162
    Cystic fibrosis patients with the 3272‐26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane
    • 62
    • PDF
    A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo.
    • 146
    • PDF
    A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    • 407
    A 32‐bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction
    • 9
    Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
    • 92
    • PDF
    Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study
    • 42
    Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis
    • 82
    Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • 486
    Complex cystic fibrosis allele R334W‐R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
    • 25