Cystic fibrosis is a heterogeneous condition caused by mutationsin the cystic fibrosis transmembrane conductance regulator (CFTR)gene.1 The gene product, a regulated chloride channel, is expressedin the apical plasma membrane of secretory and reabsorptiveepithelia of affected organs and allows the transepithelialmovement of water and solute by mediating chloride translocationacross the plasma membrane. Although the mechanism underlyingthe CFTR-induced regulation of chloride transport activity haslargely been elucidated, other effector functions are less wellunderstood.
More than 1000 alterations have been identified in the CFTRgene (for a list, see http://www.genet.sickkids.on.ca/cftr/).Cystic fibrosis . . . [Full Text of this Article]
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From the Programs in Cell Biology (G.L.L.) and Integrative Biology (P.R.D.), Research Institute, Hospital for Sick Children; and the Departments of Laboratory Medicine and Pathobiology (G.L.L.), Pediatrics (P.R.D.), and Medicine (G.L.L.), University of Toronto — both in Toronto.
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