High bone density due to a mutation in LDL-receptor-related protein 5.

By L. Boyden, J. Mao, J. Belsky, L. Mitzner, Anita Farhi, M. Mitnick, Dianqing Wu, K. Insogna, R. Lifton. New England Journal of Medicine, 2002

1,544 citations recorded by the source corpus.

Subfields: Molecular Biology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/b8c6894410475f441081ea9cf03a8a078cfc5ed2

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The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

1. Hans Clevers
2. R. Nusse
3. Fanxin Long
4. Christof Niehrs
5. D. Ornitz
6. R. Moon
7. Andrea Augello
8. C. De Bari

In Rheumatology

1. Andrea Augello
2. C. De Bari
3. L. Bonewald

Citations in the corpus

• Secreted and transmembrane wnt inhibitors and activators. (2013, background): “Interestingly, for one particular LRP5 gain-of-function mutation, G171V, decreased inhibition of LRP5 by Dkk1 was suggested to account for increased LRP5 signaling (Boyden et al. 2002; Ai et al. 2005).”
• Distinct roles for Hedgehog and canonical Wnt signaling in specification, differentiation and maintenance of osteoblast progenitors (2006, background): “Human genetic analysis identified mutations in LRP5 where bone mass was increased (activating mutations) (Boyden et al., 2002), or decreased, in osteoporosis pseudoglioma syndrome (OPPG; null mutations) (Gong et al., 2001).”
• WNT and β-catenin signalling: diseases and therapies (2004, background): “The insightful referral of this patient to the Creighton Osteoporosis Research Center, and genetic analysis of her family, led to the discovery that an amino-acid change in the extracellular domain of LRP5 was linked to this high bone mass phenotyp”
• Sequential roles of Hedgehog and Wnt signaling in osteoblast development (2004, background): “Conversely, an activating mutation in Lrp5 has been linked in two separate cases to individuals with a high bone density syndrome (Boyden et al., 2002; Little et al., 2002).”
• Wnt/β-catenin signaling and disease. (2012, positive): “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.”
• Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum: an entero-bone endocrine axis (2008, background): “Other, presumably activating, mutations in LRP5 cause high bone mass syndrome (Boyden et al., 2002).”
• Osteoblasts in prostate cancer metastasis to bone (2005, background): “fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4041">LRP5 , a WNT co-receptor that regulates bone formation through β-cateni”
• The Regulation of Differentiation in Mesenchymal Stem Cells (2010, positive): “As an example, we reported that human synovium-derived clonal MSCs were all capable of osteogenic and chondrogenic differentiation although with varying potency, but only 30% of the clonal populations tested were able to differentiate into adipocytes (Karystinou et al. , 2009).”