메뉴 건너뛰기




Volumn 48, Issue 3, 2011, Pages 456-460

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population

Author keywords

Haplotype; Mutation; Paget's disease of bone; Population study; SQSTM1 gene

Indexed keywords

ADENOSINE; CYTIDINE; THYMIDINE;

EID: 79751527853     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.11.004     Document Type: Article
Times cited : (29)

References (30)
  • 2
    • 0034094376 scopus 로고    scopus 로고
    • Prevalence of pelvic Paget's disease of bone in the United States
    • Altman R.D., Bloch D.A., Hochberg M.C., Murphy W.A. Prevalence of pelvic Paget's disease of bone in the United States. J Bone Miner Res 2000, 15:461-465.
    • (2000) J Bone Miner Res , vol.15 , pp. 461-465
    • Altman, R.D.1    Bloch, D.A.2    Hochberg, M.C.3    Murphy, W.A.4
  • 6
    • 0036094026 scopus 로고    scopus 로고
    • Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone
    • Laurin N., Brown J.P., Morissette J., Raymond V. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 2002, 70:1582-1588.
    • (2002) Am J Hum Genet , vol.70 , pp. 1582-1588
    • Laurin, N.1    Brown, J.P.2    Morissette, J.3    Raymond, V.4
  • 7
    • 34247861003 scopus 로고    scopus 로고
    • Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone
    • Morissette J., Laurin N., Brown J.P. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res 2006, 21(Suppl 2):P38-P44.
    • (2006) J Bone Miner Res , vol.21 , Issue.SUPPL 2
    • Morissette, J.1    Laurin, N.2    Brown, J.P.3
  • 9
    • 2342493320 scopus 로고    scopus 로고
    • Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations
    • Eekhoff E.W., Karperien M., Houtsma D., Zwinderman A.H., Dragoiescu C., Kneppers A.L., et al. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum 2004, 50:1650-1654.
    • (2004) Arthritis Rheum , vol.50 , pp. 1650-1654
    • Eekhoff, E.W.1    Karperien, M.2    Houtsma, D.3    Zwinderman, A.H.4    Dragoiescu, C.5    Kneppers, A.L.6
  • 10
    • 8644267864 scopus 로고    scopus 로고
    • Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB)
    • Falchetti A., Di Stefano M., Marini F., Del Monte F., Mavilia C., Strigoli D., et al. Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). J Bone Miner Res 2004, 19:1013-1017.
    • (2004) J Bone Miner Res , vol.19 , pp. 1013-1017
    • Falchetti, A.1    Di Stefano, M.2    Marini, F.3    Del Monte, F.4    Mavilia, C.5    Strigoli, D.6
  • 11
    • 33644689607 scopus 로고    scopus 로고
    • Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family
    • Falchetti A., Di Stefano M., Marini F., Del Monte F., Gozzini A., Masi L., et al. Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family. Arthritis Res Ther 2005, 7:R1289-R1295.
    • (2005) Arthritis Res Ther , vol.7
    • Falchetti, A.1    Di Stefano, M.2    Marini, F.3    Del Monte, F.4    Gozzini, A.5    Masi, L.6
  • 12
    • 4544371010 scopus 로고    scopus 로고
    • Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences
    • Hocking L.J., Lucas G.J., Daroszewska A., Cundy T., Nicholson G.C., Donath J., et al. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res 2004, 19:1122-1127.
    • (2004) J Bone Miner Res , vol.19 , pp. 1122-1127
    • Hocking, L.J.1    Lucas, G.J.2    Daroszewska, A.3    Cundy, T.4    Nicholson, G.C.5    Donath, J.6
  • 14
    • 58149280230 scopus 로고    scopus 로고
    • Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone
    • Falchetti A., Di Stefano M., Marini F., Ortolani S., Ulivieri M.F., Bergui S., et al. Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone. Calcif Tissue Int 2009, 84:20-37.
    • (2009) Calcif Tissue Int , vol.84 , pp. 20-37
    • Falchetti, A.1    Di Stefano, M.2    Marini, F.3    Ortolani, S.4    Ulivieri, M.F.5    Bergui, S.6
  • 15
    • 0037108914 scopus 로고    scopus 로고
    • Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease
    • Hocking L.J., Lucas G.J., Daroszewska A., Mangion J., Olavesen M., Cundy T., et al. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet 2002, 11:2735-2739.
    • (2002) Hum Mol Genet , vol.11 , pp. 2735-2739
    • Hocking, L.J.1    Lucas, G.J.2    Daroszewska, A.3    Mangion, J.4    Olavesen, M.5    Cundy, T.6
  • 16
    • 34548147590 scopus 로고    scopus 로고
    • Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone
    • Beyens G., Daroszewska A., de Freitas F., Fransen E., Vanhoenacker F., Verbruggen L., et al. Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone. J Bone Miner Res 2007, 22:1062-1071.
    • (2007) J Bone Miner Res , vol.22 , pp. 1062-1071
    • Beyens, G.1    Daroszewska, A.2    de Freitas, F.3    Fransen, E.4    Vanhoenacker, F.5    Verbruggen, L.6
  • 17
    • 33745510646 scopus 로고    scopus 로고
    • A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype
    • Rea S.L., Walsh J.P., Ward L., Yip K., Ward B.K., Kent G.N., et al. A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. J Bone Miner Res 2006, 21:1136-1145.
    • (2006) J Bone Miner Res , vol.21 , pp. 1136-1145
    • Rea, S.L.1    Walsh, J.P.2    Ward, L.3    Yip, K.4    Ward, B.K.5    Kent, G.N.6
  • 18
    • 33846479861 scopus 로고    scopus 로고
    • Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations
    • Collet C., Michou L., Audran M., Chasseigneaux S., Hilliquin P., Bardin T., et al. Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res 2007, 22:310-317.
    • (2007) J Bone Miner Res , vol.22 , pp. 310-317
    • Collet, C.1    Michou, L.2    Audran, M.3    Chasseigneaux, S.4    Hilliquin, P.5    Bardin, T.6
  • 20
    • 2942709744 scopus 로고    scopus 로고
    • Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees
    • Good D.A., Busfield F., Fletcher B.H., Lovelock P.K., Duffy D.L., Kesting J.B., et al. Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. Bone 2004, 35:277-282.
    • (2004) Bone , vol.35 , pp. 277-282
    • Good, D.A.1    Busfield, F.2    Fletcher, B.H.3    Lovelock, P.K.4    Duffy, D.L.5    Kesting, J.B.6
  • 21
    • 0030158571 scopus 로고    scopus 로고
    • The Staden sequence analysis package
    • Staden R. The Staden sequence analysis package. Mol Biotechnol 1996, 5:233-241.
    • (1996) Mol Biotechnol , vol.5 , pp. 233-241
    • Staden, R.1
  • 22
    • 50949105285 scopus 로고    scopus 로고
    • Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's disease of bone
    • Chung P.Y., Beyens G., Guanabens N., Boonen S., Papapoulos S., Karperien M., et al. Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's disease of bone. Calcif Tissue Int 2008, 83:34-42.
    • (2008) Calcif Tissue Int , vol.83 , pp. 34-42
    • Chung, P.Y.1    Beyens, G.2    Guanabens, N.3    Boonen, S.4    Papapoulos, S.5    Karperien, M.6
  • 23
    • 0018733944 scopus 로고
    • Giant cell tumor in Paget's disease of bone: familial and geographic clustering
    • Jacobs T.P., Michelsen J., Polay J.S., D'Adamo A.C., Canfield R.E. Giant cell tumor in Paget's disease of bone: familial and geographic clustering. Cancer 1979, 44:742-747.
    • (1979) Cancer , vol.44 , pp. 742-747
    • Jacobs, T.P.1    Michelsen, J.2    Polay, J.S.3    D'Adamo, A.C.4    Canfield, R.E.5
  • 24
    • 0037070216 scopus 로고    scopus 로고
    • Structure and functional properties of the ubiquitin binding protein p62
    • Geetha T., Wooten M.W. Structure and functional properties of the ubiquitin binding protein p62. FEBS Lett 2002, 512:19-24.
    • (2002) FEBS Lett , vol.512 , pp. 19-24
    • Geetha, T.1    Wooten, M.W.2
  • 25
    • 0029894586 scopus 로고    scopus 로고
    • Molecular cloning of a phosphotyrosine-independent ligand of the p56lck SH2 domain
    • Joung I., Strominger J.L., Shin J. Molecular cloning of a phosphotyrosine-independent ligand of the p56lck SH2 domain. Proc Natl Acad Sci USA 1996, 93:5991-5995.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 5991-5995
    • Joung, I.1    Strominger, J.L.2    Shin, J.3
  • 26
    • 77749301510 scopus 로고    scopus 로고
    • Recent advances in understanding the molecular basis of Paget's disease of bone
    • Goode A., Layfield R. Recent advances in understanding the molecular basis of Paget's disease of bone. J Clin Pathol 2010, 63:199-203.
    • (2010) J Clin Pathol , vol.63 , pp. 199-203
    • Goode, A.1    Layfield, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.