• 1
    Cooper C, Schafheutle K, Dennison E, Kellingray S, Guyer P, Barker D 1999 The epidemiology of Paget's disease in Britain: Is the prevalence decreasing? J Bone Miner Res 14: 192197.
  • 2
    Fotino M, Haymovits A, Falk CT 1977 Evidence for linkage between HLA and Paget's disease. Transplant Proc 9: 18671868.
  • 3
    Cody JD, Singer FR, Roodman GD, Otterund B, Lewis TB, Leppert M, Leach RJ 1997 Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet 61: 11171122.
  • 4
    Moore SB, Hoffman DL 1988 Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone). Tissue Antigens 31: 6970.
  • 5
    Haslam SI, van Hul W, Morales-Piga A, Balemans W, San-Millan JL, Nakatsuka K, Willems P, Haites NE, Ralston SH 1998 Paget's disease of bone: Evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. J Bone Miner Res 13: 911917.
  • 6
    Hocking L, Slee F, Haslam SI, Cundy T, Nicholson G, van Hul W, Ralston SH 2000 Familial Paget's disease of bone: Patterns of inheritance and frequency of linkage to chromosome 18q. Bone 26: 577580.
  • 7
    Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RGH, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM 2000 Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 24: 4548.
  • 8
    Nance MA, Nuttall FQ, Econ MJ, Lyles KW, Viles KD, Vance JM, Pericak-Vance MA, Speer MC 2000 Heterogeneity in Paget disease of the bone. Am J Med Genet 92: 303307.
  • 9
    Good D, Busfield F, Duffy D, Lovelock PK, Kesting JB, Cameron DP, Shaw JTE 2001 Familial Paget's disease of bone: Nonlinkage to the PDB1 and PDB2 loci on chromosomes 6p and 18q in a large pedigree. J Bone Miner Res 16: 3338.
  • 10
    Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE 2001 Clinical delineation and localization to chromosome 9p133-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 74: 458475.
  • 11
    Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, Lacourciere Y, Drapeau G, Verreault J, Raymond V, Morissette J 2001 Paget disease of bone: Mapping at loci at 5q35-qter and 5q31. Am J Hum Genet 69: 528543.
  • 12
    Marco-Mingot M, San-Millan JL, Wuyts W, Bachiller-Corral J, van Hul W, Morales-Piga AA 2001 Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone. Clin Genet 60: 8688.
  • 13
    Sparks AB, Peterson SN, Bell C, Loftus BJ, Hocking L, Cahill DP, Frassica FJ, Streeten EA, Levine MA, Fraser CM, Adams MD, Broder S, Venter JC, Kinzler KW, Vogelstein B, Ralston SH 2001 Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma. Calcif Tissue Int 68: 151155.
  • 14
    Wuyts W, Van Wesenbeeck L, Morales-Piga A, Ralston SH, Hocking L, Vanhoenacker F, Westhovens R, Verbruggen L, Anderson D, Hughes A, van Hul W 2001 Evaluation of the role of RANK and OPG genes in Paget's disease of bone. Bone 28: 104107.
  • 15
    Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JTE 2002 Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 70: 517525.
  • 16
    Laurin N, Brown JP, Morissette J, Raymond V 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 70: 15821588.
  • 17
    Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet 108: 187191.
  • 18
    Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, van Hul W, Ralston SH 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet 11: 27352739.
  • 19
    Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ 2003 Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res 18: 17481753.
  • 20
    Sanz L, Sanchez P, Lallena MJ, Diaz-Meco MT, Moscat J 1999 The interaction of p62 with RIP links the atypical PKCs to NF-kappaB activation. EMBO J 18: 30443053.
  • 21
    Sanz L, Diaz-Meco MT, Nakano H, Moscat J 2000 The atypical PKC-interacting protein p62 channels NF-kappaB activation by the IL-1-TRAF6 pathway. EMBO J 19: 15761586.
  • 22
    Geetha T, Wooten MW 2002 Structure and functional properties of the ubiquitin binding protein p62. FEBS Lett 512: 1924.
  • 23
    McLean W, Olsen BR 2001 Mouse models of abnormal skeletal development and homeostasis. Trends Genet 17: S38S43.
  • 24
    Vadlamudi RK, Joung I, Strominger JL, Shin J 1996 p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins. J Biol Chem 271: 2023520237.
  • 25
    Donaldson KM, Li W, Ching KA, Batalov S, Tsai CC, Joazeiro CA 2003 Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates. Proc Natl Acad Sci USA 100: 88928897.
  • 26
    Grantham R 1974 Amino acid difference formula to help explain protein evolution. Science 185: 862864.
  • 27
    Botstein D, Risch N 2003 Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat Genet 33 (Suppl): 228237.
  • 28
    Miller MP, Kumar S 2001 Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet 10: 23192328.
  • 29
    Aarskog D, Eiken HG, Bjerknes R, Myking OL 1997 Pituitary dwarfism in the R271W Pit-1 gene mutation. Eur J Pediatr 156: 829834.
  • 30
    Ramsbottom D, Carcassi C, De Solages H, Abbal M, Crouau-Roy B, Clayton J, Camion-Thomsen A, Contu L 1996 MCH haplotypes includine eight microsatellites in French Pasques and in Sardinias. Hum Immunol 47: 5152.
  • 31
    Guglielmino CR, De Silvestri A, Rossi A, De Micheli V 1998 HLA genes and ancient migrations in the Po Valley (Italy). Ann Hum Genet 62: 261266.
  • 32
    Rickards O, Scano G, Martinez-Labarga C, Taraborelli T, Gruppioni G, De Stefano GF 1995 Genetic history of the population of Puglia (southern Italy). Gene Geogr 1: 2540.
  • 33
    Rickards O, Martinez-Labarga C, Scano G, De Stefano GF, Biondi G, Pacaci M, Walter H 1998 Genetic history of the population of Sicily. Hum Biol 70: 699714.