title: Genetic and cellular mechanisms of the formation of esophageal atresia and tracheoesophageal fistula.
abstract: Foregut separation involves dynamic changes in the activities of signaling pathways and transcription factors. Recent mouse genetic studies demonstrate that some of these pathways interact with each other to form a complex network, leading to a unique dorsal-ventral patterning in the early foregut. In this review, it is discussed how this unique dorsal-ventral patterning is set prior to the foregut separation and how disruption of this patterning affects the separation process. Roles of downstream targets of these pathways in regulating separation at cellular and molecular levels would be discussed further. Understanding the mechanism of normal separation process will provide insights into the pathobiology of a relatively common birth defect, esophageal atresia with/without tracheoesophageal fistula.
authors.affiliation: Department of Biology, University of Rochester, Rochester, New York 14642, USA.
authors.forename: I J
authors.initials: IJ
authors.lastname: Jacobs
authors.forename: J
authors.initials: J
authors.lastname: Que
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000378:metabolism; D004933:Esophageal Atresia / Q000196:embryology* / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D053823:Hedgehog Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051379:Mice; D009154:Mutation; D055748:SOXB1 Transcription Factors / Q000235:genetics / Q000378:metabolism; D014138:Tracheoesophageal Fistula / Q000196:embryology* / Q000235:genetics / Q000378:metabolism; D060449:Wnt Signaling Pathway / Q000502:physiology
chemical_list: D015415:Biomarkers; D019485:Bone Morphogenetic Proteins; D053823:Hedgehog Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; C527783:Sox2 protein, mouse