Article
Genetic variation of SCNN1A influences lung diffusing capacity in cystic fibrosis.
Medicine and science in sports and exercise - 1 Dec 2012
Baker Sarah E, Wong Eric C, Wheatley Courtney M, Foxx-Lupo William T, Martinez Marina G, Morgan Mary A, Sprissler Ryan, Morgan Wayne J, Snyder Eric M
Abstract excerpt
INTRODUCTION: Epithelial Na channels (ENaCs) play a crucial role in ion and fluid regulation in the lung. In cystic fibrosis (CF), Na hyperabsorption results from ENaC overactivity, leading to airway dehydration. Previous work has demonstrated functional genetic variation of SCNN1A (the gene encoding the ENaC α-subunit), manifesting as an alanine (A) to threonine (T) substitution at amino acid 663, with the αT663...
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