Novel Molecular and Phenotypic Insights into Congenital Lung Malformations.
Daniel T SwarrWilliam H PeranteauJennifer PogorilerDavid B FrankN Scott AdzickHolly L HedrickMike MorleySu ZhouEdward E MorriseyPublished in: American journal of respiratory and critical care medicine (2019)
This study provides the first comprehensive analysis of the congenital lung malformation transcriptome and suggests that disruptions in Ras or PI3K-AKT-mTOR signaling may contribute to the pathology through an epithelial cell-autonomous defect.