Article
High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes.
Bone - 1 Nov 2011
Niziolek Paul J, Farmer Takeisha L, Cui Yajun, Turner Charles H, Warman Matthew L, Robling Alexander G
Abstract excerpt
Mutations among genes that participate in the canonical Wnt signaling pathway can lead to drastically different skeletal phenotypes, ranging from severe osteoporosis to severe osteosclerosis. Many high-bone-mass (HBM) causing mutations that occur in the LRP5 gene appear to impart the HBM phenotype, in part, by increasing resistance to soluble Wnt signaling inhibitors, including sclerostin. Sost loss-of-function...
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