Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways
link.springer.com shows its articles on its own site.
Read the article on link.springer.com ↗Article · Jun 2020 · 1 min read
In brief
In brief
This comprehensive review examines transgenic animal models used to study congenital diaphragmatic hernia (CDH), a life-threatening birth defect causing incomplete diaphragm formation and pulmonary hypoplasia. The article catalogs candidate genes and signaling pathways implicated in CDH pathogenesis while critically evaluating the translational relevance of animal models to human disease.
Written by the GCMD Library team from the article.
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.