Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.

@article{Bronsveld2001ChlorideCA,
  title={Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.},
  author={Inez Bronsveld and Frauke Mekus and J. T. Bijman and Manfred Ballmann and Hugo R. de Jonge and Ulrike Laabs and Dicky J J Halley and Helmut Ellemunter and Gianni Mastella and St{\'e}phane Thomas and Henk J. Veeze and Burkhard T{\"u}mmler},
  journal={The Journal of clinical investigation},
  year={2001},
  volume={108 11},
  pages={1705-15}
}
To investigate the impact of chloride (Cl(-)) permeability, mediated by residual activity of the cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl(-) channels, on the manifestations of cystic fibrosis (CF), we determined Cl(-) transport properties of the respiratory and intestinal tracts in Delta F508 homozygous twins and siblings. In the majority of patients, cAMP and/or Ca(2+)-regulated Cl(-) conductance was detected in the airways and intestine. Our finding of cAMP… CONTINUE READING