Pathways and consequences: Hedgehog signaling in human disease.
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.
Mullor
José L
JL
Developmental Genetics Program and Dept of Cell Biology, Skirball Institute, NYU School of Medicine, New York, NY 10016, USA.
Sánchez
Pilar
P
Ruiz i Altaba
Ariel
A
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
D053823:Hedgehog Proteins; D015513:Oncogene Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D000071676:Zinc Finger Protein GLI1