title: Pathways and consequences: Hedgehog signaling in human disease.
abstract: Signaling pathways that play a fundamental role during development are turning out to underlie many disease states when misregulated. Here, we review some of the recent findings in the Hedgehog (Hh) pathway and the role it plays in different human diseases. We present a summary of the diseases that result from the inactivation or inappropriate activation of the Hh pathway. The human phenotypes generally fit the findings in model organisms and help to identify some potential targets for therapy.
authors.affiliation: Developmental Genetics Program and Dept of Cell Biology, Skirball Institute, NYU School of Medicine, New York, NY 10016, USA.
authors.forename: José L
authors.initials: JL
authors.lastname: Mullor
authors.forename: Pilar
authors.initials: P
authors.lastname: Sánchez
authors.forename: Ariel
authors.initials: A
authors.lastname: Ruiz i Altaba
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000378:metabolism; D004194:Disease; D053823:Hedgehog Proteins; D006801:Humans; D009369:Neoplasms / Q000378:metabolism; D015513:Oncogene Proteins / Q000378:metabolism; D015398:Signal Transduction; D015534:Trans-Activators / Q000378:metabolism*; D014157:Transcription Factors / Q000378:metabolism; D000071676:Zinc Finger Protein GLI1
chemical_list: D053823:Hedgehog Proteins; D015513:Oncogene Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D000071676:Zinc Finger Protein GLI1