Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways

  • 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.

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Author:Hiroki Nakamura, Takashi Doi, Prem PuriORCiDGND, Florian Michael FriedmacherORCiDGND
Parent Title (English):Pediatric surgery international
Place of publication:Berlin ; Heidelberg
Document Type:Article
Date of Publication (online):2020/06/26
Date of first Publication:2020/06/26
Publishing Institution:Universit├Ątsbibliothek Johann Christian Senckenberg
Release Date:2023/11/07
Tag:Congenital diaphragmatic hernia; Lung development; Pulmonary hypertension; Pulmonary hypoplasia; Retinoic acid; Transgenic mice
Page Number:7
First Page:991
Last Page:997
Open Access funding provided by Projekt DEAL.
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International