Citations for
1CRBM, SH3BP2
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.
Yoshitaka T, Mukai T, Kittaka M, Alford LM, Masrani S, Ishida S, Yamaguchi K, Yamada M, Mizuno N, Olsen BR, Reichenberger EJ, Ueki Y.
Cell Rep 8(6):1752-66. doi: 10.1016/j.celrep.2014.08.023. Epub 2014 Sep 15. 2014
2CRBM, RNF146, SH3BP2, TNKS, TNKS2
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.
Levaot N, Voytyuk O, Dimitriou I, Sircoulomb F, Chandrakumar A, Deckert M, Krzyzanowski PM, Scotter A, Gu S, Janmohamed S, Cong F, Simoncic PD, Ueki Y, La Rose J, Rottapel R.
Cell 147(6):1324-39. doi: 10.1016/j.cell.2011.10.045. 2011
3CRBM, TNKS, TNKS2
Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
Guettler S, LaRose J, Petsalaki E, Gish G, Scotter A, Pawson T, Rottapel R, Sicheri F.
Cell 147(6):1340-54. doi: 10.1016/j.cell.2011.10.046. Erratum in: Cell. 2012 Jan 20;148(1-2):376. 2011
4CRBM, SH3BP2
Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism.
Carvalho VM, Perdig„o PF, Amaral FR, de Souza PE, De Marco L, Gomez RS.
Oral Dis 15(1):106-10. doi: 10.1111/j.1601-0825.2008.01499.x. Epub 2008 Nov 11. 2009
5SH3BP2, CRBM
SH3BP2 is an activator of NFAT activity and osteoclastogenesis.
Lietman SA, Yin L, Levine MA.
Biochem Biophys Res Commun 371(4):644-8. Epub 2008 Apr 25. 2008
6CRBM, SH3BP2
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS.
Am J Med Genet 121A(1):37-40. 2003
7CRBM, SH3BP2
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E.
Nat Genet 28(2):125-6. 2001
8CRBM, SH3BP2
The Gene for Cherubism Maps to Chromosome 4p16.
Tiziani V, et al.
Am J Hum Genet 65(1):158-166. 1999
9CRBM, SH3BP2
The gene for cherubism maps to chromosome 4p16.3.
Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR.
Am J Hum Genet 65(1):151-7. 1999