General Information

1. Paget’s Disease of Bone/Fibrous Dysplasia: Advances and Challenges. J Bone Miner Res. 2006;21(Supp 2).

2. Kanis J. Pathophysiology and Treatment of Paget's Disease of Bone. Second ed. London: Martin Dunitz Ltd; 1998.

3. Singer FR, Krane SM. Paget's Disease of Bone. In: Avioli LV, Krane SM, eds. Metabolic Bone Disease and Clinically Related Disorders. Third ed. San Diego: Academic Press; 1998:545-605.

4. Patient information publications of the Paget Foundation for Paget’s Disease of Bone and Related Disorders. Website: www.paget.org

References

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62. Morales-Piga AA, Moya JL, Bachiller FJ, Munoz-Malo MT, Benavides J, Abraira V. Assessment of cardiac function by echocardiography in Paget's disease of bone. Clin Exp Rheumatol. 2000;18:31-37.

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67. Laroche M, Delmotte A. Increased arterial calcification in Paget’s disease of bone. Calcif Tissue Int. 2005;77(3)129-33.

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81. Cundy T, Wattie D, King AR. High-dose pamidronate in the management of resistant Paget's disease. Calcif Tissue Int. 1996;58:6-8.

82. Reid IR, Miller P, Lyles K, Fraser W, Brown JP, Saidi Y, Mesenbrink P, Su G, Pak J, Zelenakas K, Luchi M, Richardson P, Hosking D. Comparison of a single infusion of zoledronic acid with risedronate for Paget’s disease. N Engl J Med. 2005;353(9):898-908.

83. Schweitzer DH, Oostendorp-van de Ruit M, Van der Pluijm G, Lowik CW, Papapoulos SE. Interleukin-6 and the acute phase response during treatment of patients with Paget's disease with the nitrogen-containing bisphosphonate dimethylaminohydroxypropylidene bisphosphonate. J Bone Miner Res. 1995;10:956-962.

84. Macarol V, Fraunfelder FT. Pamidronate disodium and possible ocular adverse drug reactions. Am J Ophthalmol. 1994;118:220-224.

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91. Murad OM, Arora S, Farag AF, Guber HA. Bisphosphates and osteonecrosis of the jaw: a retrospective study. Endocr Pract. 2007;13(3):232-8.

92. Ryan WG. Two decades of experience in the treatment of Paget's disease of bone with plicamycin (mithramycin). In Singer, FR, Wallach S (eds): Paget's Disease of Bone, Clinical Assessment, Present and Future Therapy. New York: Elsevier; 1991:176-190.

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99. Kurihara N, Zhou H, Reddy SV, Garcia Palacios V, Subler MA, Dempster DW, Windle JJ, Roodman GD. Expression of measles virus nucleocapsid protein in osteoclasts induces Paget’s disease-like bone lesions in mice. J Bone Miner Res. 2006;21(3):446-55.

100. Leach RJ, Singer FR, Roodman GD. The genetics of Paget's disease of the bone. J Clin Endocrinol Metab. 2001;86:24-28.

101. Cody JD, Singer FR, Roodman GD, Otterund B, Lewis TB, Leppert M, Leach RJ. Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet. 1997;61:1117-1122.

102. Haslam SI, Van Hul W, Morales-Piga A, Balemans W, San-Millan JL, Nakatsuka K, Willems P, Haites NE, Ralston SH. Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. J Bone Miner Res. 1998;13:911-917.

103. Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000;24:45-48.

104. Wallace RG, Barr RJ, Osterberg PH, Mollan RA. Familial expansile osteolysis. Clin Orthop. 1989:265-277.

105. Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT. Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23. Am J Hum Genet. 2001;70:2.

106. Nellissery MJ, Padalecki SS, Brkanac Z, Singer FR, Roodman GD, Unni KK, Leach RJ, Hansen MF. Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone. Am J Hum Genet. 1998;63:817-824.

107. 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.

108. Rea SL, Walsh JP, Ward L, Yip K, 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(7):1136-45.

109. Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornelis F, Launay JM, Orcel P, Laplanche JL. Paget’s disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res. 2007;22(2):310-7.

110. Watts GDJ, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Nature Genetics. 2004; 36: 377-381.

111. Guinto JB, Ritson GP, Taylor JP, Forman MS. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007;114:55-61.

112. Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE. Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget’s disease of bone. Bone. 2006;38(2):280-5.

113. Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, Lacourciere Y, Drapeau G, Verrault J, Raymond V, Morissette J. Paget disease of bone: mapping of two loci at 5Q35-qter and 5q31. Am J Hum Genet. 2001, 69: 528-543.

114. Hocking LJ, Herbert CA, Nicholls RK, Williams F, Bennett ST, Cundy T, Nicholson GC, Wuyts W, Van Hul W, Ralston SH. Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. Am J Hum Genet. 2001;69:1055-1061.

115. Lucas GJ, Riches PL, Hocking LJ, Cundy T, Nicholson GC, Walsh JP, Ralston SH. Identification of a Major Locus for Paget’s Disease on Chromosome 10p13 in Families of British Descent. J Bone Miser Res. 2008;23(1):58-63.

116. Wuyts W, Van Wesenbeeck L, Morales-Piga A, Ralston S, Hocking L, Vanhoenacker R, Westhovens R, Verbruggen L, Anderson D, Hughes A, Van Hul W. Evaluation of the role of RANK and OPG genes in Paget's disease of bone. Bone. 2001;28:104-107.

117. Daroszewska A, Hocking LJ, McGuigan FE, Langdahl B, Stone MD, Cundy T, Nicholson GC, Fraser WD, Ralston SH. Susceptibility to Paget’s disease of bone is influenced by a common polymorphic variant of osteoprotegerin. J Bone Miner Res. 2004; 19:1506-1511.

118. Donath J, Speer G, Poor G, Gergely P Jr, Tabak A, Lakatos P. Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget’s disease of bone. Rheumatology (Oxford). 2004; 43: 692-695.

119. Bolland MJ, Tong PC, Naot D, Callon KE, Wattie DJ, Gamble GD, Cundy T. Delayed development of Paget’s disease in offspring inheriting SQSTM1 mutations. J Bone Miser Res. 2007;22(3):411-5.

120. Kurihara N, Hiruma Y, Zhou H, Subler MA, Dempster DW, Singer FR, Reddy SV, Gruber HE, Windle JJ, Roodman GD. Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease. J Clin Invest. 2007;117(1):133-42.