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2308-3425722020May25Journal of cardiovascular development and diseaseJ Cardiovasc Dev DisPax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development.2010.3390/jcdd7020020The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch and double outlet right ventricle, abnormalities that are a leading cause of morbidity in 22q11 Deletion Syndrome (DS) patients. We have recently shown that Pax9 functionally interacts with the 22q11DS gene Tbx1 in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos. Here, we describe the Gbx2-null cardiovascular phenotype and demonstrate a genetic interaction between Gbx2 and Pax9 in the pharyngeal endoderm during cardiovascular development.StothardCatherine ACANewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.MazzottaSilviaSNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.VyasArjunANewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.SchneiderJurgen EJEBiomedical Imaging, University of Leeds, Leeds LS2 9JT, UK.MohunTimothy JTJThe Francis Crick Institute, London NW1 1AT, UK.HendersonDeborah JDJNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.PhillipsHelen MHMNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.BamforthSimon DSDNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.engRG/12/15/29935BHF_British Heart FoundationUnited KingdomFS/16/8/31984BHF_British Heart FoundationUnited KingdomRG/19/2/34256BHF_British Heart FoundationUnited KingdomFS/11/50/29038BHF_British Heart FoundationUnited KingdomPG/16/39/32115BHF_British Heart FoundationUnited KingdomJournal Article20200525
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