-
1
-
-
84882914596
-
Familial multilocular cystic disease of the jaws
-
Jones WA: Familial multilocular cystic disease of the jaws. Am J Cancer (1933) 17: 946-950.
-
(1933)
Am J Cancer
, vol.17
, pp. 946-950
-
-
Jones, W.A.1
-
2
-
-
0033362150
-
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: The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet (1999) 65: 151-157.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 151-157
-
-
Mangion, J.1
Rahman, N.2
Edkins, S.3
Barfoot, R.4
Nguyen, T.5
Sigurdsson, A.6
Townend, J.V.7
Fitzpatrick, D.R.8
Flanagan, A.M.9
Stratton, M.R.10
-
4
-
-
0034977079
-
-
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 and Reichenberger E: Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet (2001) 28: 125-126.
-
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 and Reichenberger E: Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet (2001) 28: 125-126.
-
-
-
-
5
-
-
0242426493
-
-
Imai Y, Kanno K, Moriya T, Kayano S, Seino H, Matsubara Y and Yamada A: A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J (2003) 40: 632-638.
-
Imai Y, Kanno K, Moriya T, Kayano S, Seino H, Matsubara Y and Yamada A: A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J (2003) 40: 632-638.
-
-
-
-
7
-
-
33846649658
-
A novel mutation in the SH3BP2 gene causes cherubism:case report
-
Li CY and Yu SF: A novel mutation in the SH3BP2 gene causes cherubism:case report. BMC Med Genet (2006) 7: 84-87.
-
(2006)
BMC Med Genet
, vol.7
, pp. 84-87
-
-
Li, C.Y.1
Yu, S.F.2
-
8
-
-
84942746342
-
A novel mutation of the SH3BP2 gene in an aggressive case of cherubism
-
Mar 14; [Epub ahead of print
-
Carvalho VM, Perdigao PF, Pimenta FJ, de Souza PE, Gomez RS and De Marco L: A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral Oncol (2007) Mar 14; [Epub ahead of print].
-
(2007)
Oral Oncol
-
-
Carvalho, V.M.1
Perdigao, P.F.2
Pimenta, F.J.3
de Souza, P.E.4
Gomez, R.S.5
De Marco, L.6
-
9
-
-
57049088794
-
Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw
-
Jun 1; [Epub ahead of print
-
Idowu BD, Thomas G, Frow R, Diss TC and Flanagan AM: Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw. Br J Oral Maxillofac Surg (2007) Jun 1; [Epub ahead of print].
-
(2007)
Br J Oral Maxillofac Surg
-
-
Idowu, B.D.1
Thomas, G.2
Frow, R.3
Diss, T.C.4
Flanagan, A.M.5
-
10
-
-
34249931805
-
SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism
-
Lietman SA, Prescott NL, Hicks DG, Westra WH and Levine MA: SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism. Clin Orthop Relat Res (2007) 459: 22-27.
-
(2007)
Clin Orthop Relat Res
, vol.459
, pp. 22-27
-
-
Lietman, S.A.1
Prescott, N.L.2
Hicks, D.G.3
Westra, W.H.4
Levine, M.A.5
-
11
-
-
33845988776
-
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 cherubism: Mice
-
Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E and Olsen BR: Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism: mice. Cell (2007) 128: 71-83.
-
(2007)
Cell
, vol.128
, pp. 71-83
-
-
Ueki, Y.1
Lin, C.Y.2
Senoo, M.3
Ebihara, T.4
Agata, N.5
Onji, M.6
Saheki, Y.7
Kawai, T.8
Mukherjee, P.M.9
Reichenberger, E.10
Olsen, B.R.11
-
12
-
-
7944227070
-
Point mutations of 3BP2 identified in human- inherited disease cherubism result in the loss of function
-
Miah SM, Hatani T, Qu X, Yamamura H and Sada K: Point mutations of 3BP2 identified in human- inherited disease cherubism result in the loss of function. Genes Cells (2004) 9: 993-1004.
-
(2004)
Genes Cells
, vol.9
, pp. 993-1004
-
-
Miah, S.M.1
Hatani, T.2
Qu, X.3
Yamamura, H.4
Sada, K.5
-
13
-
-
0037470034
-
The Chaperone protein 14-3-3 interacts with 3BP2/SH3BP2 and regulates its adaptor function
-
Foucault I, Liu YC, Bernard A and Deckert M: The Chaperone protein 14-3-3 interacts with 3BP2/SH3BP2 and regulates its adaptor function. J Biol Chem (2003) 278: 7146-7153.
-
(2003)
J Biol Chem
, vol.278
, pp. 7146-7153
-
-
Foucault, I.1
Liu, Y.C.2
Bernard, A.3
Deckert, M.4
-
14
-
-
33746677024
-
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation
-
Lietman SA, Kalinchinko N, Deng X, Kohanski R and Levine MA: Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat (2006) 27: 717-718.
-
(2006)
Hum Mutat
, vol.27
, pp. 717-718
-
-
Lietman, S.A.1
Kalinchinko, N.2
Deng, X.3
Kohanski, R.4
Levine, M.A.5
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