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A single point mutation (G to T) in the low-density lipoprotein receptor related protein 5 (LRP5) gene results in a glycine to valine amino acid change (G171V) and is responsible for an autosomal dominant high bone mass trait (HBM) in two independent kindreds. LRP5 acts as a co-receptor to Wnts with Frizzled family members and transduces Wnt-canonical signals which can be antagonized by LRP5 ligand,...
The Runx family genes are involved in hematopoiesis, osteogenesis and neuropoiesis, and mutations in these genes have been frequently associated with human hereditary diseases and cancers. Here we report the cDNA cloning of the full Runx gene family of the pufferfish (Fugu rubripes), which comprises frRunx1, frRunx2, frRunx3, frRunt and frCbfb. Fugu is evolutionarily distant from mammals, thus the...
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