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Start Over Author "Collette, Nicole M." Journal genome research
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1. Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

Author

Loots, Gabriela G., Kneissel, Michaela, Rubin, Edward M., Keller, Hansjoerg, Plajzer-Frick, Ingrid, Baptist, Myma, Ovcharenko, Dmitrity, Jessie Chang, and Collette, Nicole M.

Subjects
Dysplasia -- Research, Bone diseases -- Research, Health
Abstract

A comparative sequence-based approach is undertaken to characterize a large noncoding region deleted in patients affected by Van Buchem (VB) disease, a severe sclerosing bone dysplasia. A candidate enhancer element that derives human sclerostin (SOST) expression in osteoblast-like cell lines in vitro in the skeletal anlage of the embryonic day 14.5 mouse embryo is identified.

Published
2005

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