Article
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Human mutation - 1 Jun 2010
Nikopoulos Konstantinos, Venselaar Hanka, Collin Rob W J, Riveiro-Alvarez Rosa, Boonstra F Nienke, Hooymans Johanna M M, Mukhopadhyay Arijit, Shears Deborah, van Bers Marleen, de Wijs Ilse J, van Essen Anthonie J, Sijmons Rolf H, Tilanus Mauk A D, van Nouhuys C Erik, Ayuso Carmen, Hoefsloot Lies H, Cremers Frans P M
Abstract excerpt
Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the genes encoding the low density lipoprotein receptor protein 5 (LRP5) and frizzled 4 (FZD4), acting as coreceptors...
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