title: Probing the basic defect in cystic fibrosis.
abstract: The concurrent developments in electrophysiology studies and the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has provided a unique opportunity to probe the basic cellular defect underlying cystic fibrosis. Various properties of the CFTR protein have been deduced from its primary sequence, the variety of mutations in patients and genotype-phenotype correlations, as well as the results of more recent DNA transfection studies. The most exciting observation is the fact that CFTR acts like a cAMP-regulated Cl- channel.
authors.affiliation: Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D018118:Chloride Channels; D002712:Chlorides / Q000378:metabolism; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007473:Ion Channels / Q000378:metabolism; D008168:Lung / Q000503:physiopathology; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D008954:Models, Biological; D009154:Mutation; D010179:Pancreas / Q000503:physiopathology; D010641:Phenotype; D011487:Protein Conformation; D013329:Structure-Activity Relationship; D014162:Transfection
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D002712:Chlorides; D007473:Ion Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA