Cystic fibrosis and the use of pharmacogenomics to determine surrogate endpoints for drug discovery.

@article{Eidelman2001CysticFA,
  title={Cystic fibrosis and the use of pharmacogenomics to determine surrogate endpoints for drug discovery.},
  author={Ofer Eidelman and Jie Zhang and Meera Srivastava and Harvey B Pollard},
  journal={American journal of pharmacogenomics : genomics-related research in drug development and clinical practice},
  year={2001},
  volume={1 3},
  pages={223-38}
}
Cystic fibrosis (CF) is caused by a mutation in the CFTR gene, encoding a chloride channel. For the most common mutation, Delta F508, the basis of the deficit is the failure of the mutant CFTR channel protein to traffic properly to the apical plasma membrane of the affected epithelial cell. The trafficking failure results in loss of the cyclic adenosine monophosphate (cAMP)-activated chloride channel function of the CFTR protein in the plasma membrane. The lung is the principal site affecting… CONTINUE READING

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