메뉴 건너뛰기




Volumn 44, Issue 2, 2008, Pages 153-155

A novel mutation of the SH3BP2 gene in an aggressive case of cherubism

Author keywords

Cherubism; Pleckstrin homology domain; SH3BP2

Indexed keywords

PLECKSTRIN;

EID: 38749140590     PISSN: 13688375     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.oraloncology.2007.01.012     Document Type: Article
Times cited : (19)

References (17)
  • 1
    • 84882914596 scopus 로고
    • Familial multilocular cystic disease of the jaw
    • Jones W.A. Familial multilocular cystic disease of the jaw. Am J Cancer 17 (1933) 946-950
    • (1933) Am J Cancer , vol.17 , pp. 946-950
    • Jones, W.A.1
  • 2
    • 0033362150 scopus 로고    scopus 로고
    • The gene for cherubism maps to chromosome 4p16.3
    • Mangion J., et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 65 1 (1999) 151-157
    • (1999) Am J Hum Genet , vol.65 , Issue.1 , pp. 151-157
    • Mangion, J.1
  • 3
    • 0034977079 scopus 로고    scopus 로고
    • Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
    • Ueki Y., et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 28 (2001) 125-126
    • (2001) Nat Genet , vol.28 , pp. 125-126
    • Ueki, Y.1
  • 4
    • 0041321493 scopus 로고    scopus 로고
    • Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism
    • Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.C., and Teebi A.S. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet 121A (2003) 37-40
    • (2003) Am J Med Genet , vol.121 A , pp. 37-40
    • Lo, B.1    Faiyaz-Ul-Haque, M.2    Kennedy, S.3    Aviv, R.4    Tsui, L.C.5    Teebi, A.S.6
  • 5
    • 7944227070 scopus 로고    scopus 로고
    • Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function
    • Miah S.M., 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 9 (2004) 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
  • 6
    • 33746677024 scopus 로고    scopus 로고
    • Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation
    • Lietman S.A., Kalinchinko N., Deng X., Kohanski R., and Levine M.A. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat 27 7 (2006) 717-718
    • (2006) Hum Mutat , vol.27 , Issue.7 , pp. 717-718
    • Lietman, S.A.1    Kalinchinko, N.2    Deng, X.3    Kohanski, R.4    Levine, M.A.5
  • 7
    • 0018239560 scopus 로고
    • Cherubism: an initial unilateral presentation
    • Arnott D.G. Cherubism: an initial unilateral presentation. Br J Oral Surg 16 (1979) 38-46
    • (1979) Br J Oral Surg , vol.16 , pp. 38-46
    • Arnott, D.G.1
  • 8
    • 0022532258 scopus 로고
    • An usually extensive case of cherubism
    • Ramon Y., and Engelberg I.S. An usually extensive case of cherubism. J Oral Maxillofac Surg 44 (1986) 325-328
    • (1986) J Oral Maxillofac Surg , vol.44 , pp. 325-328
    • Ramon, Y.1    Engelberg, I.S.2
  • 9
    • 0031765758 scopus 로고    scopus 로고
    • Treatment of cherubism with locally aggressive behaviour presenting in adulthood: Report of four cases and a proposed new grading system
    • Motamedi M.H.K. Treatment of cherubism with locally aggressive behaviour presenting in adulthood: Report of four cases and a proposed new grading system. J Oral Maxillofac Surg 56 (1998) 1336-1342
    • (1998) J Oral Maxillofac Surg , vol.56 , pp. 1336-1342
    • Motamedi, M.H.K.1
  • 10
    • 0031238792 scopus 로고    scopus 로고
    • Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer
    • Bell S.M., Shaw M., Jou Y.S., Myers R.M., and Knowles M.A. Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. Genomics 44 (1997) 163-170
    • (1997) Genomics , vol.44 , pp. 163-170
    • Bell, S.M.1    Shaw, M.2    Jou, Y.S.3    Myers, R.M.4    Knowles, M.A.5
  • 12
    • 0028143269 scopus 로고
    • Analysis of changes in DNA sequences copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
    • Isola J., DeVries S., Ghazvini S., and Waldman F. Analysis of changes in DNA sequences copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145 (1994) 1301-1308
    • (1994) Am J Pathol , vol.145 , pp. 1301-1308
    • Isola, J.1    DeVries, S.2    Ghazvini, S.3    Waldman, F.4
  • 13
    • 0242426493 scopus 로고    scopus 로고
    • A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism
    • Imai Y., et al. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Cran J 40 (2003) 632-638
    • (2003) Cleft Palate Cran J , vol.40 , pp. 632-638
    • Imai, Y.1
  • 15
    • 0034684044 scopus 로고    scopus 로고
    • Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
    • Zollino M., et al. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94 3 (2000) 254-261
    • (2000) Am J Med Genet , vol.94 , Issue.3 , pp. 254-261
    • Zollino, M.1
  • 16
    • 13944273804 scopus 로고    scopus 로고
    • The etiology of Wolf-Hirschhorn syndrome
    • Review
    • Bergemann A.D., Cole F., and Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet 21 3 (2005) 188-195 Review
    • (2005) Trends Genet , vol.21 , Issue.3 , pp. 188-195
    • Bergemann, A.D.1    Cole, F.2    Hirschhorn, K.3
  • 17
    • 13444262384 scopus 로고    scopus 로고
    • CDD: a Conserved Domain Database for protein classification
    • Marchler-Bauer A., et al. CDD: a Conserved Domain Database for protein classification. Nucleic Acids Res 33 (2005) D192-D196
    • (2005) Nucleic Acids Res , vol.33
    • Marchler-Bauer, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.