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cyclopamine

cyclopamine  

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An alkaloid, produced by the skunk cabbage Veratrum californicum, that is a potent teratogen and causes major developmental defects (e.g. cyclopia) by blocking the hedgehog signalling pathway. ...
Gorlin syndrome

Gorlin syndrome  

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A genetic condition characterized by disorders of the skin, bones, and nervous system, with a markedly increased risk of developing multiple basal cell carcinomas. R. J. Gorlin (1923), US pathologist
hedgehog

hedgehog  

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A secreted morphogen originally discovered in Drosophila; various mammalian homologues have subsequently been identified (sonic hedgehog (462 aa), Indian hedgehog (411 aa), and desert hedgehog (396 ...
holoprosencephaly

holoprosencephaly  

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A craniofacial developmental disorder in which there is a failure of the prosencephalon (embryonic forebrain) to develop; severe forms may cause cyclopia. The genetic basis is diverse: ...
Niemann-Pick disease

Niemann-Pick disease  

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An inherited (autosomal recessive) disorder of lipid metabolism due to a defect in the enzyme sphingomyelinase and resulting in accumulation of sphingomyelin (a sphingolipid) and other phospholipids ...
smoothened

smoothened  

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(Smo)A G-protein-coupled receptor, the homologue of the Drosophila protein, that is translocated to the primary cilium when acted upon by patched that has bound the sonic hedgehog ligand. Smoothened ...
SUFU

SUFU  

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The major negative regulator of the sonic hedgehog/*patched signalling pathway in vertebrates (suppressor of fused). The human gene has 40% homology with the Drosophila gene and the product (484 aa) ...

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