0000000000089736

AUTHOR

Guido Seitz

showing 1 related works from this author

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

EmbryologyCandidate geneGene ExpressionTranscriptomeMiceDatabase and Informatics MethodsMedicine and Health SciencesExomeExomeExome sequencingGenetics0303 health sciencesMultidisciplinaryComputer-Aided Drug DesignQ030305 genetics & hereditySequence analysisRGenomicsCongenital AnomaliesDNA-Binding Proteinsembryonic structuresAmino Acid AnalysisMedicineTranscriptome AnalysisTracheoesophageal FistulaResearch ArticleDrug Research and DevelopmentBioinformaticsSequence analysisScienceIn silicoBiologyResearch and Analysis Methods03 medical and health sciencesExome SequencingGeneticsCongenital DisordersAnimalsHumansddc:610Molecular Biology TechniquesEsophageal AtresiaMolecular BiologyDNA sequence analysis030304 developmental biologyHomeodomain ProteinsPharmacologyMolecular Biology Assays and Analysis TechniquesGene Expression ProfilingEmbryosDNA HelicasesBiology and Life SciencesComputational BiologyEmbryo MammalianGenome AnalysisFANCBRepressor ProteinsGene expression profilingBiological DatabasesDrug DesignMutation DatabasesMutationDevelopmental Biology
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