title: Hedgehog signaling and human disease.
abstract: Developmental pathways first elucidated by genetic studies in the fruit fly Drosophila melanogaster are conserved in vertebrates. The hedgehog pathway, first discovered because of its involvement in early Drosophila development, plays a key role in human embryogenesis. Dissruption of this pathway has been associated with congenital anomalies of the central nervous system, axial skeleton, limbs, and occasionally other organs. Many developmental genes continue to play an important role in regulation of cell growth and differentiation after embryogenesis, and mutations that lead to activation of the hedgehog pathway result in skin cancer and other malignancies in children and adults.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA. allen.bale@yale.edu
authors.forename: Allen E
authors.initials: AE
authors.lastname: Bale
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D019465:Craniofacial Abnormalities / Q000235:genetics; D004331:Drosophila melanogaster / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D053823:Hedgehog Proteins; D006801:Humans; D008954:Models, Biological; D009369:Neoplasms / Q000235:genetics; D015398:Signal Transduction; D015534:Trans-Activators / Q000378:metabolism* / Q000502:physiology; D014407:Tumor Cells, Cultured
chemical_list: D053823:Hedgehog Proteins; D015534:Trans-Activators