Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism

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 3BP2. Most identified mutations in 3BP2 lie within the pe...

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Autori principali: Levaot, Noam, Voytyuk, Oleksandr, Dimitriou, Ioannis, Sircoulomb, Fabrice, Chandrakumar, Arun, Deckert, Marcel, Krzyzanowski, Paul M., Scotter, Andrew, Gu, Shengqing, Janmohamed, Salima, Cong, Feng, Simoncic, Paul D., Ueki, Yasuyoshi, La Rose, Jose, Rottapel, Robert
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3475183/
https://ncbi.nlm.nih.gov/pubmed/22153076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2011.10.045
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