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SH3BP2
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
SH3BP2
gene.
Chen G, Dimitriou ID, La Rose J, Ilangumaran S, Yeh WC, Doody G, Turner M, Gommerman J, Rottapel R. The 3BP2 adapter protein is required for optimal B-cell activation and thymus-independent type 2 humoral response. Mol Cell Biol. 2007 Apr;27(8):3109-22. Epub 2007 Feb 5.
PubMed citation
de la Fuente MA, Kumar L, Lu B, Geha RS. 3BP2 deficiency impairs the response of B cells, but not T cells, to antigen receptor ligation. Mol Cell Biol. 2006 Jul;26(14):5214-25.
PubMed citation
de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):378-81. Epub 2006 Sep 26.
PubMed citation
Entrez
Gene
Gene Review:
Cherubism
Li CY, Yu SF. A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC Med Genet. 2006 Dec 5;7:84.
PubMed citation
Lietman SA, Kalinchinko N, Deng X, Kohanski R, Levine MA. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat. 2006 Jul;27(7):717-8.
PubMed citation
Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A. 2003 Aug 15;121A(1):37-40.
PubMed citation
Novack DV, Faccio R. Jawing about TNF: new hope for cherubism. Cell. 2007 Jan 12;128(1):15-7.
PubMed citation
Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell. 2007 Jan 12;128(1):71-83.
PubMed citation
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. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6.
PubMed citation
Reviewed: April 2007
Published: June 17, 2013