Ontology highlight
ABSTRACT:
SUBMITTER: Goncharova EA
PROVIDER: S-EPMC4034569 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Goncharova Elena A EA Goncharov Dmitry A DA James Melane L ML Atochina-Vasserman Elena N EN Stepanova Victoria V Hong Seung-Beom SB Li Hua H Gonzales Linda L Baba Masaya M Linehan W Marston WM Gow Andrew J AJ Margulies Susan S Guttentag Susan S Schmidt Laura S LS Krymskaya Vera P VP
Cell reports 20140413 2
Spontaneous pneumothoraces due to lung cyst rupture afflict patients with the rare disease Birt-Hogg-Dubé (BHD) syndrome, which is caused by mutations of the tumor suppressor gene folliculin (FLCN). The underlying mechanism of the lung manifestations in BHD is unclear. We show that BHD lungs exhibit increased alveolar epithelial cell apoptosis and that Flcn deletion in mouse lung epithelium leads to cell apoptosis, alveolar enlargement, and an impairment of both epithelial barrier and overall lu ...[more]