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Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
Hedgehog Signaling Pathway and Human Disorders
Katsunori FujiiToshiyuki Miyashita
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Keywords: PTCH, SMO, GLI
JOURNAL FREE ACCESS

2009 Volume 41 Issue 4 Pages 247-252

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Abstract
  The hedgehog signaling pathway plays pivotal roles in embryonic development and cancer formation. This pathway in mammals consists of multiple molecules such as Sonic Hedgehog, PTCH, SMO, and GLI. Mutations of these components result in various human malformations or tumors, i.e., holoprosencephaly, Gorlin syndrome, Greig encephalopolysyndactyly, Pallister-Hall syndrome, Rubinstein-Taybi syndrome, basal cell carcinomas, and medulloblastomas. Recently, small molecules that inhibit this signaling pathway were developed, and clinically applied to cancer therapy. Thus, understanding of these molecular relationships may facilitate the development of new therapies and treatments for diseases caused by hedgehog signaling disorders.
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© 2009 The Japanese Society of Child Neurology
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