2019
Complex Genetics and the Etiology of Human Congenital Heart Disease
Kim R, Gruber P. Complex Genetics and the Etiology of Human Congenital Heart Disease. Cardiac And Vascular Biology 2019, 7: 169-184. DOI: 10.1007/978-3-030-27371-2_5.Peer-Reviewed Original Research
1996
RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice.
Gruber P, Kubalak S, Pexieder T, Sucov H, Evans R, Chien K. RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice. Journal Of Clinical Investigation 1996, 98: 1332-1343. PMID: 8823298, PMCID: PMC507559, DOI: 10.1172/jci118920.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsEndocardial Cushion DefectsFetal HeartHeart Defects, CongenitalHeart Septal Defects, VentricularIn Situ HybridizationMiceMice, Inbred C57BLMice, Mutant StrainsMicroscopy, Electron, ScanningModels, BiologicalMusclesPeptide BiosynthesisPeptidesReceptors, Retinoic AcidTruncus Arteriosus, PersistentConceptsCardiac morphogenesisRXR alphaAtrioventricular cushionsHuman congenital heartMuscle defectsNormal cardiac morphogenesisDisease susceptibility genesEmbryonic day 13.5Gene dosage effectEmbryonic day 14.5Homozygous embryosAlpha mutant miceMorphogenic defectsHeterozygous embryosMLC-2aDosage effectAnatomic phenotypesDay 13.5EmbryosDay 14.5MorphogenesisPhenotypeDouble outlet right ventricleIntermediate phenotypesRidge defects