| Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome. | Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.
Srivastava T, Garola RE, Zhou J, Boinpelly VC, Rezaiekhaligh MH, Joshi T, Jiang Y, Ebadi D, Sharma S, Sethna C, Staggs VS, Sharma R, Gipson DS, Hao W, Wang Y, Mariani LH, Hodgin JB, Rottapel R, Yoshitaka T, Ueki Y, Sharma M., Free PMC Article | 02/12/2024 |
| Cherubism in three siblings.", trans "A cherubismus elofordulasa harom testverben. | [Cherubism in three siblings].
Jákob N, Pintér GT, Kotmayer L, Nagy P, Bödör C, Barabás P, Bécser J, Szabó G, Bogdán S. | 03/26/2022 |
| SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review. | SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review.
Kueper J, Tsimbal C, Olsen BR, Kaban L, Liao EC. | 01/15/2022 |
| The current study shows that SH3BP2 is expressed in primary tumors and cell lines from Gastrointestinal stromal tumors (GISTs) patients and that SH3BP2 silencing leads to a downregulation of oncogenic KIT and PDGFRA expression and an increase in apoptosis in imatinib-sensitive and imatinib-resistant GIST cells. | Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth.
Serrano-Candelas E, Ainsua-Enrich E, Navinés-Ferrer A, Rodrigues P, García-Valverde A, Bazzocco S, Macaya I, Arribas J, Serrano C, Sayós J, Arango D, Martin M., Free PMC Article | 07/6/2019 |
| All members featured a heterozygous missense c.1244G>C; p.Arg415Pro SH3BP2 mutation | Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.
Argyris PP, Gopalakrishnan R, Hu Y, Reichenberger EJ, Koutlas IG., Free PMC Article | 09/1/2018 |
| The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. | The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.
Ainsua-Enrich E, Serrano-Candelas E, Álvarez-Errico D, Picado C, Sayós J, Rivera J, Martín M., Free PMC Article | 07/4/2015 |
| A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family | A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.
Sekerci AE, Balta B, Dundar M, Hu Y, Reichenberger EJ, Etoz OA, Nazlim S, Bayrakdar IS., Free PMC Article | 04/11/2015 |
| Authors conclude that a novel p.Asp419Tyr alteration in SH3BP2 to be a cherubism-causing mutation in a Turkish family. | A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.
Dinckan N, Guven Y, Kayserili H, Aktoren O, Uyguner OZ. | 07/20/2013 |
| In the first family, a missense mutation Arg415Gln was found in exon 9 of SH3BP2 in all affected individuals. The unaffected individuals did not have the mutation. In the second family, a missense mutation Pro418Thr was identified in exon 9 of the SH3BP2 | Mutations of the SH3BP2 gene in 2 families of cherubism.
Tuna EB, Shimizu T, Seymen F, Yildirim M, Gencay K, Maeda T. | 05/18/2013 |
| These results demonstrate that PARP1 regulates expression of SH3BP2. | Cloning and characterization of the human SH3BP2 promoter.
Fan C, Gaivin RJ, Marth TA, Willard B, Levine MA, Lietman SA., Free PMC Article | 02/23/2013 |
| P416R mutation of 3BP2 causes the gain of function in B cells by increasing the interaction with specific signaling molecules. | Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.
Ogi K, Nakashima K, Chihara K, Takeuchi K, Horiguchi T, Fujieda S, Sada K. | 01/7/2012 |
| if a primary genetic defect is the cause for CGCG it is either located in SH3BP2 gene exons not yet related to cherubism or in a different gene. | SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma.
Teixeira RC, Horz HP, Damante JH, Garlet GP, Santos CF, Nogueira RL, Cavalcante RB, Conrads G. | 12/31/2011 |
| The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism. | [Gene mutation and expression of SH-3BP-2 in cherubism].
Li YW, Meng XM, Yu SF, Gao P. | 03/19/2011 |
| over expression of SH3BP2 in RAW 264.7 cells potentiates sRANKL-stimulated phosphorylation of PLCgamma1 and PLCgamma2. | SH3BP2 mutations potentiate osteoclastogenesis via PLCγ.
Lietman SA, Yin L, Levine MA., Free PMC Article | 10/23/2010 |
| No SH3BP2 gene mutation was found in PGCL. | NFATc1 and TNFalpha expression in giant cell lesions of the jaws.
Amaral FR, Brito JA, Perdigão PF, Carvalho VM, de Souza PE, Gomez MV, De Marco L, Gomez RS. | 07/19/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | New genetic associations detected in a host response study to hepatitis B vaccine.
Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M. | 04/7/2010 |
| 3BP2 induces the protein complex with cellular signaling molecules through phosphorylation of Tyr(183) and SH2 domain leading to the activation of NFAT in B cells | Tyrosine phosphorylation of 3BP2 regulates B cell receptor-mediated activation of NFAT.
Shukla U, Hatani T, Nakashima K, Ogi K, Sada K., Free PMC Article | 01/21/2010 |
| 2 novel mutations were found; heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. | Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism.
Carvalho VM, Perdigão PF, Amaral FR, de Souza PE, De Marco L, Gomez RS. | 01/21/2010 |
| Point mutations in the SH3BP2 gene have been revealed in cherubism patients. | Investigation of the SH3BP2 gene mutation in cherubism.
Lee JY, Jung YS, Kim SA, Lee SH, Ahn SG, Yoon JH. | 01/21/2010 |
| 3BP2 acts downstream of SAP, increases CD244 phosphorylation and links the receptor with PI3K, Vav, PLC gamma, and PKC downstream events in order to achieve maximum natural killer cell killing function. | The adaptor 3BP2 activates CD244-mediated cytotoxicity in PKC- and SAP-dependent mechanisms.
Saborit-Villarroya I, Martinez-Barriocanal A, Oliver-Vila I, Engel P, Sayos J, Martin M. | 01/21/2010 |
| People with Giant Cell Granuloma of the Jaw do not harbour cherubism-related germline SH3BP2 mutations. | Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw.
Idowu BD, Thomas G, Frow R, Diss TC, Flanagan AM. | 01/21/2010 |
| no mutations...in giant cell granuloma | DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. | 01/21/2010 |
| A new mutation in a family affected with cherubism | A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.
de Lange J, van Maarle MC, van den Akker HP, Redeker EJ. | 01/21/2010 |
| unexpected role of 3BP2 in endocytic and cytoskeletal regulation through its interaction with CIN85 and HIP-55 | Abl-SH3 binding protein 2, 3BP2, interacts with CIN85 and HIP-55.
Le Bras S, Moon C, Foucault I, Breittmayer JP, Deckert M. | 01/21/2010 |