Pediatr Surg Int. 2020 Jun 26. doi: 10.1007/s00383-020-04705-0. [Epub ahead of print] https://pmlegacy.ncbi.nlm.nih.gov/pubmed/32591848
Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways.
Nakamura H1,2, Doi T1,2, Puri P1,3, Friedmacher F4,5.
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Abstract
Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH herniation occurs at the same time as preacinar airway branching, normal lung development becomes severely disrupted, resulting almost invariably in pulmonary hypoplasia. Despite various research efforts over the past decades, the pathogenesis of CDH and associated lung hypoplasia remains poorly understood. With the advent of molecular techniques, transgenic animal models of CDH have generated a large number of candidate genes, thus providing a novel basis for future research and treatment. This review article offers a comprehensive overview of genes and signaling pathways implicated in CDH etiology, whilst also discussing strengths and limitations of transgenic animal models in relation to the human condition.
KEYWORDS:
Congenital diaphragmatic hernia; Lung development; Pulmonary hypertension; Pulmonary hypoplasia; Retinoic acid; Transgenic micePMID: 32591848 DOI: 10.1007/s00383-020-04705-0
