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cyclopamine

Overview page. Subjects: Medicine and Health.

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...

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Gorlin syndrome

Overview page. Subjects: Medicine and Health.

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...

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hedgehog

Overview page. Subjects: Medicine and Health.

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

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holoprosencephaly

Overview page. Subjects: Plastic and Reconstructive Surgery.

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:...

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Niemann-Pick disease

Overview page. Subjects: Medicine and Health — Genetics and Genomics.

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...

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smoothened

Overview page. Subjects: Medicine and Health.

(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...

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SUFU

Overview page. Subjects: Medicine and Health.

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...

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