Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Andrew Scotter"'
Autor:
Jose La Rose, Andrew Scotter, Marcel Deckert, Fabrice Sircoulomb, Yasuyoshi Ueki, Paul D. Simoncic, Feng Cong, Noam Levaot, Ioannis D. Dimitriou, Robert Rottapel, Shengqing Gu, Oleksandr Voytyuk, Arun A. Chandrakumar, Paul M. Krzyzanowski, Salima Janmohamed
Publikováno v:
Cell. 147(6):1324-1339
SUMMARY Cherubism is an autosomal-dominant syndrome characterized by inflammatory destructive bony lesions resulting in symmetrical deformities of the facial bones. Cherubism is caused by mutations in Sh3bp2, the gene that encodes the adaptor protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::288f7c4d241154ae3829db1ce780be9d
Autor:
Marc D. Grynpas, Paul D. Simoncic, Jose La Rose, Andrew Scotter, Adeline H.M. Ng, Thomas L. Willett, Noam Levaot, Salima Janmohamed, Chiachien J. Wang, Robert Rottapel, Ernst J Reichenberger, Ioannis D. Dimitriou
Publikováno v:
Bone. 48:S72
A fine balance between bone resorption by osteoclasts and bone formation by osteoblasts maintains bone homeostasis. In patients with cherubism, gain-of-function mutations in 3BP2, which is encoded by SH3-domain binding protein 2 (SH3BP2), cause cysti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f564ca5cd246c2d4cc4e24a1a5c1ea
https://doi.org/10.1016/j.bone.2011.03.080
https://doi.org/10.1016/j.bone.2011.03.080