| http://purl.uniprot.org/citations/23650387 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23650387 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital diaphragmatic hernia (CDH) is a common birth defect that results in a high degree of neonatal morbidity and mortality, but its pathological mechanisms are largely unknown. Therefore, we performed a forward genetic screen in mice to identify unique genes, models, and mechanisms of abnormal diaphragm development. We identified a mutant allele of kinesin family member 7 (Kif7), the disorganized diaphragm (dd). Embryos homozygous for the dd allele possess communicating diaphragmatic hernias, central tendon patterning defects, and increased cell proliferation with diaphragmatic tissue hyperplasia. Because the patterning of the central tendon is undescribed, we analyzed the expression of genes regulating tendonogenesis in dd/dd mutant embryos, and we determined that retinoic acid (RA) signaling was misregulautted. To further investigate the role of Kif7 and RA signaling in the development of the embryonic diaphragm, we established primary mesenchymal cultures of WT embryonic day 13.5 diaphragmatic cells. We determined that RA signaling is necessary for the expression of tendon markers as well as the expression of other CDH-associated genes. Knockdown of Kif7, and retinoic acid receptors alpha (Rara), beta (Rarb), and gamma (Rarg) indicated that RA signaling is dependent on these genes to promote tendonogenesis within the embryonic diaphragm. Taken together, our results provide evidence for a model in which inhibition of RA receptor signaling promotes CDH pathogenesis through a complex gene network."xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1222797110"xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/author | "Ackerman K.G."xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/author | "Coles G.L."xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/pages | "E1898-905"xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/title | "Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia."xsd:string |
| http://purl.uniprot.org/citations/23650387 | http://purl.uniprot.org/core/volume | "110"xsd:string |
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