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Pathways and consequences: Hedgehog signaling in human disease
Authors:Mullor José L  Sánchez Pilar  Ruiz i Altaba Ariel
Affiliation:

Developmental Genetics Program and Dept of Cell Biology, Skirball Institute, NYU School of Medicine, 540 First Avenue, New York, NY 10016, USA

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.
Keywords:hedgehog signaling   signal transduction   cell-cell signaling   cholesterol   disease   development   gli protein   patched   smoothened
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