메뉴 건너뛰기




Volumn 27, Issue 2, 2012, Pages 443-452

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

Author keywords

GENE GENE INTERACTION; NF B ACTIVITY; SEVERITY OF PAGET'S DISEASE OF BONE; TNFRSF11A GENE; V192A

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B;

EID: 84856190866     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.542     Document Type: Article
Times cited : (32)

References (47)
  • 2
    • 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: 155-63. (Pubitemid 351952259)
    • (2008) The Lancet , vol.372 , Issue.9633 , pp. 155-163
    • Ralston, S.H.1    Langston, A.L.2    Reid, I.R.3
  • 3
    • 0013515410 scopus 로고
    • Paget's disease (osteitis deformans) and hereditary
    • Montagu MF,. Paget's disease (osteitis deformans) and hereditary. Am J Hum Genet. 1949; 1: 94-5.
    • (1949) Am J Hum Genet. , vol.1 , pp. 94-95
    • Montagu, M.F.1
  • 5
    • 0028221605 scopus 로고
    • Epidemiological aspects of Paget's disease: Family history and relationship to other medical conditions
    • DOI 10.1016/0049-0172(94)90037-X
    • Siris ES,. Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum. 1994; 23: 222-5. (Pubitemid 24077088)
    • (1994) Seminars in Arthritis and Rheumatism , vol.23 , Issue.4 , pp. 222-225
    • Siris, E.S.1
  • 7
    • 53349165206 scopus 로고    scopus 로고
    • Pathogenesis of Paget's disease of bone
    • Ralston SH,. Pathogenesis of Paget's disease of bone. Bone. 2008; 43: 819-25.
    • (2008) Bone. , vol.43 , pp. 819-825
    • Ralston, S.H.1
  • 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: 1582-8. (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
    • 34848912628 scopus 로고    scopus 로고
    • The molecular pathogenesis of Paget disease of bone
    • DOI 10.1017/S1462399407000464, PII S1462399407000464
    • Layfield R,. The molecular pathogenesis of Paget disease of bone. Expert Rev Mol Med. 2007; 9: 1-13. (Pubitemid 47506363)
    • (2007) Expert Reviews in Molecular Medicine , vol.9 , Issue.27 , pp. 1-13
    • Layfield, R.1
  • 11
    • 77749301510 scopus 로고    scopus 로고
    • Recent advances in understanding the molecular basis of Paget disease of bone
    • Goode A, Layfield R,. Recent advances in understanding the molecular basis of Paget 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
  • 14
    • 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: 391-8.
    • (2006) Cell Mol Life Sci. , vol.63 , pp. 391-398
    • Reddy, S.V.1
  • 15
    • 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-kappaB signaling without loss of ubiquitin binding
    • Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T,. 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-kappaB signaling without loss of ubiquitin binding. J Bone Miner Res. 2009; 24: 1216-23.
    • (2009) J Bone Miner Res. , vol.24 , pp. 1216-1223
    • Rea, S.L.1    Walsh, J.P.2    Ward, L.3    Magno, A.L.4    Ward, B.K.5    Shaw, B.6    Layfield, R.7    Kent, G.N.8    Xu, J.9    Ratajczak, T.10
  • 21
    • 0036133351 scopus 로고    scopus 로고
    • Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding rank and is allelic to familial expansile osteolysis
    • Whyte MP, Hughes AE,. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res. 2002; 17: 26-9. (Pubitemid 33150993)
    • (2002) Journal of Bone and Mineral Research , vol.17 , Issue.1 , pp. 26-29
    • Whyte, M.P.1    Hughes, A.E.2
  • 22
    • 0038643034 scopus 로고    scopus 로고
    • Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene
    • DOI 10.1359/jbmr.2003.18.8.1381
    • Nakatsuka K, Nishizawa Y, Ralston SH,. Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. J Bone Miner Res. 2003; 18: 1381-5. (Pubitemid 41070792)
    • (2003) Journal of Bone and Mineral Research , vol.18 , Issue.8 , pp. 1381-1385
    • Nakatsuka, K.1    Nishizawa, Y.2    Ralston, S.H.3
  • 30
    • 33745510646 scopus 로고    scopus 로고
    • A novel mutation (K378X) in the Sequestosome 1 gene associated with increased NF-κB signaling and Paget's disease of bone with a severe phenotype
    • DOI 10.1359/jbmr.060405
    • Rea SL, Walsh JP, Ward L, Yip K, Ward BK, Kent GN, Steer JH, Xu J, Ratajczak T,. 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: 1136-45. (Pubitemid 43962843)
    • (2006) Journal of Bone and Mineral Research , vol.21 , Issue.7 , 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    Steer, J.H.7    Xu, J.8    Ratajczak, T.9
  • 32
    • 42049110350 scopus 로고    scopus 로고
    • Receptor activator of nuclear factor κB ligand and osteoprotegerin regulation of bone remodeling in health and disease
    • DOI 10.1210/er.2007-0014
    • Kearns AE, Khosla S, Kostenuik PJ,. Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease. Endocr Rev. 2008; 29: 155-92. (Pubitemid 351519689)
    • (2008) Endocrine Reviews , vol.29 , Issue.2 , pp. 155-192
    • Kearns, A.E.1    Khosla, S.2    Kostenuik, P.J.3
  • 34
    • 0034065196 scopus 로고    scopus 로고
    • Familial Paget's disease of bone: Patterns of inheritance and frequency of linkage to chromosome 18q
    • DOI 10.1016/S8756-3282(00)00278-7, PII S8756328200002787
    • Hocking L, Slee F, Haslam SI, Cundy T, Nicholson G, van Hul W, Ralston SH,. Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q. Bone. 2000; 26: 577-80. (Pubitemid 30301649)
    • (2000) Bone , vol.26 , Issue.6 , pp. 577-580
    • Hocking, L.1    Slee, F.2    Haslam, S.I.3    Cundy, T.4    Nicholson, G.5    Van Hul, W.6    Ralston, S.H.7
  • 35
    • 33746644136 scopus 로고    scopus 로고
    • P62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-κB ligand-induced osteoclast formation: A new insight into the pathogenesis of Paget's disease of bone
    • DOI 10.2353/ajpath.2006.050960
    • Yip KH, Feng H, Pavlos NJ, Zheng MH, Xu J,. p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: a new insight into the pathogenesis of Paget's disease of bone. Am J Pathol. 2006; 169: 503-14. (Pubitemid 44156310)
    • (2006) American Journal of Pathology , vol.169 , Issue.2 , pp. 503-514
    • Yip, K.H.M.1    Feng, H.2    Pavlos, N.J.3    Zheng, M.H.4    Xu, J.5
  • 40
    • 0026705933 scopus 로고
    • Identification of cysteine-rich domains of the type 1 tumor necrosis factor receptor involved in ligand binding
    • Marsters SA, Frutkin AD, Simpson NJ, Fendly BM, Ashkenazi A,. Identification of cysteine-rich domains of the type 1 tumor necrosis factor receptor involved in ligand binding. J Biol Chem. 1992; 267: 5747-50.
    • (1992) J Biol Chem. , vol.267 , pp. 5747-5750
    • Marsters, S.A.1    Frutkin, A.D.2    Simpson, N.J.3    Fendly, B.M.4    Ashkenazi, A.5
  • 41
    • 0032005028 scopus 로고    scopus 로고
    • Modularity in the TNF-receptor family
    • DOI 10.1016/S0968-0004(97)01164-X, PII S096800049701164X
    • Naismith JH, Sprang SR,. Modularity in the TNF-receptor family. Trends Biochem Sci. 1998; 23: 74-9. (Pubitemid 28085231)
    • (1998) Trends in Biochemical Sciences , vol.23 , Issue.2 , pp. 74-79
    • Naismith, J.H.1    Sprang, S.R.2
  • 45
    • 29244488577 scopus 로고    scopus 로고
    • Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men
    • DOI 10.1007/s00439-005-0062-4
    • Hsu YH, Niu T, Terwedow HA, Xu X, Feng Y, Li Z, Brain JD, Rosen CJ, Laird N, Xu X,. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet. 2006; 118: 568-77. (Pubitemid 41825129)
    • (2006) Human Genetics , vol.118 , Issue.5 , pp. 568-577
    • Hsu, Y.-H.1    Niu, T.2    Terwedow, H.A.3    Xu, X.4    Feng, Y.5    Li, Z.6    Brain, J.D.7    Rosen, C.J.8    Laird, N.9    Xu, X.10
  • 46
    • 74949138328 scopus 로고    scopus 로고
    • Metabolic bone diseases: Translational research-preventing fractures with denosumab
    • Ebeling PR,. Metabolic bone diseases: translational research-preventing fractures with denosumab. Nat Rev Rheumatol. 2009; 5: 660-1.
    • (2009) Nat Rev Rheumatol. , vol.5 , pp. 660-661
    • Ebeling, P.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.