Several PATCHED1 Missense Mutations Display Activity in patched1-Deficient Fibroblasts

Mutations in mouse and human patched1(ptc1) genes are associated with birth defects and cancer. Ptc1 is a receptor for Hedgehog (Hh) signaling proteins. Hh proteins activate transcription of target genes, including ptc1, and Ptc1 represses those genes, both by regulating the activity of Gli transcri...

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Veröffentlicht in:	The Journal of biological chemistry 2002-09, Vol.277 (37), p.33632-33640
Hauptverfasser:	Bailey, Evans C., Milenkovic, Ljiljana, Scott, Matthew P., Collawn, James F., Johnson, Ronald L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Basal Cell Nevus Syndrome - etiology Basal Cell Nevus Syndrome - genetics Cell Line Fibroblasts Hedgehog Proteins Humans Lac Operon Membrane Proteins - deficiency Membrane Proteins - physiology Mutation, Missense Oncogene Proteins - analysis Patched Receptors Patched-1 Receptor Receptors, Cell Surface Trans-Activators - analysis Trans-Activators - physiology Transcription Factors - analysis Transcription, Genetic Zinc Finger Protein GLI1
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