FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition

Cystic fibrosis (CF) lung disease severity is highly variable and dependent on several factors including genetic modifiers. Family with sequence similarity 13 member A (FAM13A) has been previously associated with lung function in the general population as well as in several chronic lung diseases, such as chronic obstructive pulmonary disease (COPD), we examined whether FAM13A is a modifier gene of CF lung phenotype. We also studied how FAM13A may contribute to the physiopathological mechanisms associated with CF.

Source: Journal of Cystic Fibrosis - November 24, 2017 Category: Respiratory Medicine Authors: Harriet Corvol, Nathalie Rousselet, Kristin E. Thompson, Laura Berdah, Guillaume Cottin, Tobias Foussigniere, Elisabeth Longchampt, Laurence Fiette, Edouard Sage, C éline Prunier, Mitchell Drumm, Craig A. Hodges, Pierre-Yves Boëlle, Loic Guillot Tags: Original Article Source Type: research