TY  - JOUR
A1  - Nakamura, Hiroki
A1  - Doi, Takashi
A1  - Puri, Prem
A1  - Friedmacher, Florian Michael
T1  - Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways
T2  - Pediatric surgery international
N2  - 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.
KW  - Congenital diaphragmatic hernia
KW  - Pulmonary hypoplasia
KW  - Lung development
KW  - Pulmonary hypertension
KW  - Transgenic mice
KW  - Retinoic acid
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/79332
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-793322
SN  - 1437-9813
N1  - Open Access funding provided by Projekt DEAL.
VL  - 36
IS  - 9
SP  - 991
EP  - 997
PB  - Springer
CY  - Berlin ; Heidelberg
ER  -