Etiology of CF: knowns and unknowns.
It is still difficult to rationalize many of the features of CF with mutations in a single gene coding for a protein with one well-established function. The central question to be resolved is whether there are additional functions of CFTR to be discovered which better explain the poorly understood aspects of the molecular pathophysiology. Alternatively, each of the steps between primary chloride channel dysfunction and the different pathological processes must be elucidated.
Riordan
J R
JR
Department of Research, Mayo Clinic Scottsdale, Arizona 85259, USA.
D002648:Child; D018118:Chloride Channels / Q000378:metabolism; D003550:Cystic Fibrosis / Q000235:genetics / Q000378:metabolism*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000378:metabolism; D006801:Humans; D008168:Lung / Q000378:metabolism
C505032:CFTR protein, human; D018118:Chloride Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator