A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

By R. D. Little, J. Carulli, R. D. Del Mastro, J. Dupuis, M. Osborne, C. Folz, S. P. Manning, P. Swain, Shan-Chuan Zhao, Brenda K. Eustace and 25 more. American Journal of Human Genetics, 2002

1,307 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/a2cf601666780607c1d34b8988e07a6ba07c839b

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In Genetics

1. Christof Niehrs
2. Fanxin Long
3. Rocky S. Tuan
4. L. Bonewald
5. D. Ornitz
6. S. Angers
7. Z. Steinhart
8. Hans Clevers

In Molecular Biology

1. Christof Niehrs
2. Fanxin Long
3. D. Ornitz
4. Xi He
5. Cristina Cruciat
6. L. Bonewald
7. S. Harada
8. G. Rodan

Citations in the corpus

• LDL receptor-related proteins 5 and 6 in Wnt/β-catenin signaling: Arrows point the way (2004, background): “…several groups of autosomal-dominant bone disorders, characterized by high bone density traits, are also associated with LRP5 mutations, which are missense in nature and clustered in the first β-propeller region of LRP5 (Boyden et al., 2002; Little et al., 2002; Van Wesenbeeck et al., 2003) (Fig.”
• Adult mesenchymal stem cells and cell-based tissue engineering (2002, background): “An established Wnt coreceptor, the low-density lipoprotein receptor-related peptide 5 (LRP-5) has been linked to osteoporosis–pseudoglioma syndrome in humans [68].”
• Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (2004, methodology): “…the missense mutations found in this study, as well as those missense mutations identified in patients with OPPG and high bone mass in other studies (Gong et al. 2001; Boyden et al. 2002; Little et al. 2002; Van Wesenbeeck et al. 2003), onto the three-dimensional structure of the LRP5 protein (fig.”
• Development of the endochondral skeleton. (2013, background): “Conversely, a different set of mutations in Lrp5 that render the coreceptor refractory to extracellular WNT inhibitors DKK1 and Sclerostin (encoded by Sost) cause high-bonemass syndrome (Boyden et al. 2002; Little et al. 2002; Ai et al. 2005; Ellies et al. 2006; Semenov and He 2006).”
• Wnt/β-catenin signaling and disease. (2012, neutral): “Subsequently, patients with distinct types of hereditary high bone mass diseases were found to carry mutations in the LRP5 extracellular domain (Boyden et al., 2002; Little et al., 2002), which render LRP5 resistant to binding of the antagonist SOST (Ellies et al.”
• Control of osteoblast function and regulation of bone mass (2003, background): “This trait was mapped to chromosome 11q13 (the long arm of chromosome 11 at band 13) where a single mutation, G171V, was found in all affected individual”
• BMP‐2 Controls Alkaline Phosphatase Expression and Osteoblast Mineralization by a Wnt Autocrine Loop (2003, background): “More recently, it has been shown that loss of function of the Wnt coreceptor, LRP5, in both humans and mice leads to decreased bone formation postnatally, and a point mutation in this same receptor results in a high bone mass trait.((10,11)) These reports show the crucial role that Wnt/LRP5 signal t”
• Sequential roles of Hedgehog and Wnt signaling in osteoblast development (2004, methodology): “The Smo* cDNA was as previously described (Long et al., 2001).”