Cell culture system to assay candidate genes and molecular pathways implicated in congenital diaphragmatic hernias.

ABSTRACT: The mammalian muscularized diaphragm is essential for respiration and defects in the developing diaphragm cause a common and frequently lethal birth defect, congenital diaphragmatic hernia (CDH). Human genetic studies have implicated more than 150 genes and multiple molecular pathways in CDH, but few of these have been validated because of the expense and time to generate mouse mutants. The pleuroperitoneal folds (PPFs) are transient embryonic structures in diaphragm development and defects in PPFs lead to CDH. We have developed a system to culture PPF fibroblasts from E12.5 mouse embryos and show that these fibroblasts, in contrast to the commonly used NIH 3T3 fibroblasts, maintain expression of key genes in normal diaphragm development. Using pharmacological and genetic manipulations tha

SUBMITTER: Bogenschutz EL 

PROVIDER: S-EPMC7643881 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature