Novel Molecular and Phenotypic Insights into Congenital Lung Malformations.

ABSTRACT:

Rationale

Disruption of normal pulmonary development is a leading cause of morbidity and mortality in infants. Congenital lung malformations are a unique model to study the molecular pathogenesis of isolated structural birth defects, as they are often surgically resected.

Objectives

To provide insight into the molecular pathogenesis of congenital lung malformations through analysis of cell-type and gene expression changes in these lesions.

Methods

Clinical data, and lung tissue for DNA, RNA, and histology, were obtained from 58 infants undergoing surgical resection of a congenital lung lesion. Transcriptome-wide gene expression analysis was performed on paired affected and unaffected samples from a subset of infants (n = 14). A three-dimensional organoid culture model

SUBMITTER: Swarr DT 

PROVIDER: S-EPMC5955056 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature