Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

By W. Balemans, Neela M. Patel, M. Ebeling, E. Hul, W. Wuyts, C. Lacza, M. Dioszegi, F. Dikkers, P. Hildering, P. Willems and 5 more. Journal of Medical Genetics, 2002

718 citations recorded by the source corpus.

Subfields: Cell Biology, Clinical Biochemistry, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/4f9b73a9113f28c026ec9e8a87c7a91220e54626

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In Cell Biology

1. Christof Niehrs
2. D. Ornitz
3. L. Bonewald

In Molecular Biology

1. Fanxin Long
2. Cristina Cruciat
3. D. Ornitz
4. L. Bonewald
5. Christof Niehrs
6. S. Angers
7. P. ten Dijke
8. Mark L. Johnson

Citations in the corpus

• Sclerostin Is an Osteocyte-expressed Negative Regulator of Bone Formation, But Not a Classical BMP Antagonist (2004, background): “Van Buchem disease (OMIM 239100), a condition resembling sclerosteosis but differentiated by its less severe character and absence of hand malformations (3, 5) was recently found to result from a homozygous 52-kb deletion some 35-kb downstream of the SOST gene (17, 18).”
• Secreted and transmembrane wnt inhibitors and activators. (2013, background): “2001), and van Buchem disease (Balemans et al. 2002; Staehling-Hampton et al. 2002), which are characterized by overgrowth of bone tissue.”
• Osteocytes, mechanosensing and Wnt signaling. (2008, background): “Mutations in Sost and Dkk-1 in humans and/or mice have been shown to result in increased bone mass (10)(9)(111)(84) consistent with a role of the Wnt/βcatenin signaling pathway in bone mass regulation.”
• Wnt signaling in development and tissue homeostasis (2018, background): “…example is mutations discovered in SOST (sclerostin), a negative regulator of LRP5/6 that was found to be causally linked to high bone density pathology via loss-of-function mutations (Brunkow et al., 2001) or mutations that decrease its expression (Balemans et al., 2002; Loots et al., 2005).”
• Development of the endochondral skeleton. (2013, background): “…bone formation, loss-of-function or loss-of-expression mutations in Sost, which are expected to enhance LRP5 signaling, result in the bone-thickening diseases known as sclerosteosis or van Buchem disease, respectively (Balemans et al. 2001, 2002; Brunkow et al. 2001; Staehling-Hampton et al. 2002).”