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Volumn 25, Issue 6, 2010, Pages 1375-1384

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

Author keywords

Environment; Genetics; Giant cell tumor; Paget's disease of bone; SQSTM1

Indexed keywords

PROTEIN; SEQUESTOSOME 1; UNCLASSIFIED DRUG;

EID: 77953478842     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.31     Document Type: Article
Times cited : (63)

References (49)
  • 1
    • 0002640802 scopus 로고
    • On a form of chronic inflammation of bones (osteitis deformans)
    • Paget J. On a form of chronic inflammation of bones (osteitis deformans). Med Chir Trans. 1877;60:37-63.
    • (1877) Med Chir Trans , vol.60 , pp. 37-63
    • Paget, J.1
  • 3
    • 46749127771 scopus 로고    scopus 로고
    • Pathogenesis and management of Paget's disease of bone
    • DOI 10.1016/S0140-6736(08)61035-1, PII S0140673608610351
    • Ralston SH, Langston AL, Reid IR. Pathogenesis and management of Paget's disease of bone. Lancet. 2008;72:155-163. (Pubitemid 351952259)
    • (2008) The Lancet , vol.372 , Issue.9633 , pp. 155-163
    • Ralston, S.H.1    Langston, A.L.2    Reid, I.R.3
  • 4
    • 0013515410 scopus 로고
    • Paget's disease (osteitis deformans) and hereditary
    • Montagu MFA. Paget's disease (osteitis deformans) and hereditary. Am J Hum Genet. 1949;1:94-95.
    • (1949) Am J Hum Genet , vol.1 , pp. 94-95
    • Montagu, M.F.A.1
  • 6
    • 0028221605 scopus 로고
    • Epidemiological aspects of Paget's disease: Family history and relationship to other medical conditions
    • Siris ES. Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum. 1994;23:222-225.
    • (1994) Semin Arthritis Rheum , vol.23 , pp. 222-225
    • Siris, E.S.1
  • 7
    • 25144442611 scopus 로고    scopus 로고
    • Genetics of Paget's disease of bone
    • Lond
    • Daroszewska A, Ralston SH. Genetics of Paget's disease of bone. Clin Sci (Lond). 2005;109:257-263.
    • (2005) Clin Sci , vol.109 , pp. 257-263
    • Daroszewska, A.1    Ralston, S.H.2
  • 8
    • 0036094026 scopus 로고    scopus 로고
    • Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in paget disease of bone
    • DOI 10.1086/340731
    • Laurin N, Brown JP, 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. (Pubitemid 34533906)
    • (2002) American Journal of Human Genetics , vol.70 , Issue.6 , pp. 1582-1588
    • Laurin, N.1    Brown, J.P.2    Morissette, J.3    Raymond, V.4
  • 10
    • 0142148013 scopus 로고    scopus 로고
    • Three novel mutations in SQSTM1 identified in familial Paget's disease of bone
    • Johnson-Pais TL, Wisdom JH, Weldon KS, et al. Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res. 2003;18:1748-1753.
    • (2003) J Bone Miner Res , vol.18 , pp. 1748-1753
    • Johnson-Pais, T.L.1    Wisdom, J.H.2    Weldon, K.S.3
  • 18
    • 43049108052 scopus 로고    scopus 로고
    • Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States
    • Rhodes EC, Johnson-Pais TL, Singer FR, et al. Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States. Calcif Tissue Int. 2008;82:271-277.
    • (2008) Calcif Tissue Int , vol.82 , pp. 271-277
    • Rhodes, E.C.1    Johnson-Pais, T.L.2    Singer, F.R.3
  • 19
    • 70349101680 scopus 로고    scopus 로고
    • Sequestosome 1 Mutations in Paget's Disease of Bone in Australia: Prevalence, Genotype/Phenotype Correlation and a Novel Non-UBA Domain Mutation (P364S) Associated with Increased NF-κB Signaling Without Loss of Ubiquitin-Binding
    • Rea SL, Walsh JP, Ward L, et al. Sequestosome 1 Mutations in Paget's Disease of Bone in Australia: Prevalence, Genotype/Phenotype Correlation and a Novel Non-UBA Domain Mutation (P364S) Associated with Increased NF-κB Signaling Without Loss of Ubiquitin-Binding. J Bone Miner Res. 2009;24:1216-1223.
    • (2009) J Bone Miner Res , vol.24 , pp. 1216-1223
    • Rea, S.L.1    Walsh, J.P.2    Ward, L.3
  • 22
    • 34247861003 scopus 로고    scopus 로고
    • Sequestosome 1: Mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone
    • Morissette J, Laurin N, Brown JP. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res. 2006;21:P38-44.
    • (2006) J Bone Miner Res , vol.21 , pp. 38-44
    • Morissette, J.1    Laurin, N.2    Brown, J.P.3
  • 23
    • 33846009075 scopus 로고    scopus 로고
    • Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease
    • Kurihara N, Hiruma Y, Zhou H, et al. Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease. J Clin Invest. 2007;117:133-142.
    • (2007) J Clin Invest , vol.117 , pp. 133-142
    • Kurihara, N.1    Hiruma, Y.2    Zhou, H.3
  • 24
    • 33645046107 scopus 로고    scopus 로고
    • Etiologic factors in Paget's disease of bone
    • Reddy SV. Etiologic factors in Paget's disease of bone. Cell Mol Life Sci. 2006;63:391-398.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 391-398
    • Reddy, S.V.1
  • 29
    • 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
    • GenePage Project
    • Falchetti A, Di Stefano M, Marini F, et al. GenePage Project. 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
  • 30
    • 19944434345 scopus 로고    scopus 로고
    • Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a founder effect in patients of British descent
    • Lucas GJ, Hocking LJ, Daroszewska A, et al. Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. J Bone Miner Res. 2005;20:227-231.
    • (2005) J Bone Miner Res , vol.20 , pp. 227-231
    • Lucas, G.J.1    Hocking, L.J.2    Daroszewska, A.3
  • 31
    • 50949105285 scopus 로고    scopus 로고
    • Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone
    • Chung PY, Beyens G, Guañabens N, 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    Guañabens, N.3
  • 33
    • 33846433786 scopus 로고    scopus 로고
    • Canine distemper virus induces human osteoclastogenesis through NF-κB and sequestosome 1/P62 activation
    • DOI 10.1359/jbmr.060805
    • Selby PL, Davies M, Mee AP. Canine distemper virus induces human osteoclastogenesis through NF-κB and sequestosome 1/P62 activation. J Bone Miner Res. 2006;21:1750-1756. (Pubitemid 46141230)
    • (2006) Journal of Bone and Mineral Research , vol.21 , Issue.11 , pp. 1750-1756
    • Selby, P.L.1    Davies, M.2    Mee, A.P.3
  • 34
    • 37549034220 scopus 로고    scopus 로고
    • Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent
    • Lucas GJ, Riches PL, Hocking LJ, et al. Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent. J Bone Miner Res. 2008;23:58-63.
    • (2008) J Bone Miner Res , vol.23 , pp. 58-63
    • Lucas, G.J.1    Riches, P.L.2    Hocking, L.J.3
  • 35
    • 0018733944 scopus 로고
    • Giant cell tumor in Paget's disease of bone. Familial and geographic clustering
    • DOI 10.1002/1097-0142(197908)44:2<742::AID-CNCR2820440247>3.0.CO;2- U
    • Jacobs TP, Michelsen J, Polay JS, D'Adamo AC, Canfield RE. Giant cell tumor in Paget's disease of bone: Familial and geographic clustering. Cancer. 1979;44:742-747. (Pubitemid 10233788)
    • (1979) Cancer , vol.44 , Issue.2 , pp. 742-747
    • Jacobs, T.P.1    Michelsen, J.2    Polay, J.S.3
  • 38
    • 0031934129 scopus 로고    scopus 로고
    • Multicentric giant cell tumor with viral-like inclusions associated with Paget's disease of bone: A case treated by steroid therapy
    • De Chiara A, Apice G, Fazioli F, Silvestro P, Carone G, Manco A. Multicentric giant cell tumor with viral-like inclusions associated with Paget's disease of bone: a case treated by steroid therapy. Oncol Rep. 1998;5:317-320. (Pubitemid 28100080)
    • (1998) Oncology Reports , vol.5 , Issue.2 , pp. 317-320
    • De Chiara, A.1    Apice, G.2    Fazioli, F.3    Silvestro, P.4    Carone, G.5    Manco, A.6
  • 39
    • 59749096578 scopus 로고    scopus 로고
    • Absence of somatic SQSTM1 mutations in Paget's disease of bone
    • Matthews BG, Naot D, Bava U, et al. Absence of somatic SQSTM1 mutations in Paget's disease of bone. J Clin Endocrinol Metab. 2009;94:691-694.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 691-694
    • Matthews, B.G.1    Naot, D.2    Bava, U.3
  • 40
    • 61849097834 scopus 로고    scopus 로고
    • Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone
    • Merchant A, Smielewska M, Patel N, et al. Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone. J Bone Miner Res. 2009;24:484-494.
    • (2009) J Bone Miner Res , vol.24 , pp. 484-494
    • Merchant, A.1    Smielewska, M.2    Patel, N.3
  • 41
    • 0022414463 scopus 로고
    • Past pets and Paget's disease
    • O'Driscoll JB, Anderson DC. Past pets and Paget's disease. Lancet. 1985;2:919-921.
    • (1985) Lancet , vol.2 , pp. 919-921
    • O'Driscoll, J.B.1    Anderson, D.C.2
  • 44
    • 0025031812 scopus 로고
    • No adjustments are needed for multiple comparisons
    • Rothman KJ. No adjustments are needed for multiple comparisons. Epidemiology. 1990;1:43-46.
    • (1990) Epidemiology , vol.1 , pp. 43-46
    • Rothman, K.J.1
  • 45
    • 0032542897 scopus 로고    scopus 로고
    • What's wrong with Bonferroni adjustments
    • Perneger TV. What's wrong with Bonferroni adjustments. BMJ. 1998;316:1236-1238.
    • (1998) BMJ , vol.316 , pp. 1236-1238
    • Perneger, T.V.1
  • 46
    • 11944270643 scopus 로고    scopus 로고
    • Paget's disease of bone in New Zealand: Continued decline in disease severity
    • DOI 10.1007/s00223-004-0281-z
    • Cundy HR, Gamble G, Wattie D, Rutland M, Cundy T. Paget's disease of bone in New Zealand: continued decline in disease severity. Calcif Tissue Int. 2004;75:358-364. (Pubitemid 40100882)
    • (2004) Calcified Tissue International , vol.75 , Issue.5 , pp. 358-364
    • Cundy, H.R.1    Gamble, G.2    Wattie, D.3    Rutland, M.4    Cundy, T.5
  • 47
    • 0029116734 scopus 로고
    • Generation of multinucleated osteoclast-like cells from canine bone marrow: Effects of canine distemper virus
    • Mee AP, May C, Bennett D, Sharpe PT. Generation of multinucleated osteoclast-like cells from canine bone marrow: Effects of canine distemper virus. Bone. 1995;17:47-55.
    • (1995) Bone , vol.17 , pp. 47-55
    • Mee, A.P.1    May, C.2    Bennett, D.3    Sharpe, P.T.4
  • 49
    • 0034989963 scopus 로고    scopus 로고
    • Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts
    • DOI 10.1210/en.142.7.2898
    • Reddy SV, Kurihara N, Menaa C, et al. Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts. Endocrinology. 2001;142:2898-2905. (Pubitemid 32575525)
    • (2001) Endocrinology , vol.142 , Issue.7 , pp. 2898-2905
    • Reddy, S.V.1    Kurihara, N.2    Menaa, C.3    Landucci, G.4    Forthal, D.5    Koop, B.A.6    Windle, J.J.7    Roodman, G.D.8


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