The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population
Abstract
Van Buchem disease is an autosomal recessive sclerosing bone dysplasia characterized by skeletal hyperostosis, overgrowth of the mandible, and a liability to entrapment of the seventh and eighth cranial nerves. The genetic determinant maps to chromosome 17q12‐q21. We refined the critical interval to the < 1‐Mb region between D17S2250 and D17S2253 in 15 affected individuals, all of whom shared a common disease haplotype. Furthermore, we report here the identification of a 52‐kb deletion located within the interval and encompassing D17S1789 that is 100% concordant with the disorder. Although the deletion itself does not appear to disrupt the coding region of any known or novel gene(s), the closest flanking genes are MEOX1 on the proximal side, and SOST on the distal side of the deletion. MEOX1 is known to be important for the development of the axial skeleton, whereas the SOST gene is the determinant of sclerosteosis, a disorder that shares many features with van Buchem disease, thus raising the possibility that van Buchem disease results from dysregulation of the expression of one or both of these genes. © 2002 Wiley‐Liss, Inc.
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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Balemans, W. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.5.537 · Cited by 1,147
Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318811 · Cited by 1,011
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Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21
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Li, X., Ominsky, M. S., Niu, Q.-T., Sun, N., Daugherty, B., D'Agostin, D., Kurahara, C., Gao, Y., Cao, J., Gong, J., et al. (2008) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.080216 · Cited by 936
van Bezooijen, R. L., Roelen, B. A. J., Visser, A., van der Wee-Pals, L., de Wilt, E., Karperien, M., Hamersma, H., Papapoulos, S. E., ten Dijke, P., & Löwik, C. W. G. M. (2004) · The Journal of Experimental Medicine · doi:10.1084/jem.20031454 · Cited by 892
Self-citationSingle-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody
Padhi, D., Jang, G., Stouch, B., Fang, L., & Posvar, E. (2011) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.173 · Cited by 786
SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor
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Metadata
- Authors
- Staehling‐Hampton, K., Proll, S., Paeper, B. W., Zhao, L., Charmley, P., Brown, A., Gardner, J. C., Galas, D., Schatzman, R. C., Beighton, P., Papapoulos, S., Hamersma, H., & Brunkow, M. E.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 2002-05-22
- Volume
- 110
- Issue
- 2
- Pages
- 144-152
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2161984225
- Cited by
- 294
- References
- 33
- FWCI
- 3.00
- Type
- journal article
- Language
- en
- Open access
- closed
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- Staehling‐Hampton, K., Proll, S., Paeper, B. W., Zhao, L., Charmley, P., Brown, A., Gardner, J. C., Galas, D., Schatzman, R. C., Beighton, P., Papapoulos, S., Hamersma, H., & Brunkow, M. E. (2002). A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.10401
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