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Journal Abstract Search

277 related items for PubMed ID: 16277682

  • 1. 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, Tanini A, Amedei A, Carossino A, Isaia G, Brandi ML.
    Arthritis Res Ther; 2005; 7(6):R1289-95. PubMed ID: 16277682
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  • 2. 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 MF, Bergui S, Masi L, Cepollaro C, Benucci M, Di Munno O, Rossini M, Adami S, Del Puente A, Isaia G, Torricelli F, Brandi ML, GenePage Project.
    Calcif Tissue Int; 2009 Jan; 84(1):20-37. PubMed ID: 19067022
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  • 3. 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, De Feo ML, Isaia G, Masi L, Amedei A, Cioppi F, Ghinoi V, Bongi SM, Di Fede G, Sferrazza C, Rini GB, Melchiorre D, Matucci-Cerinic M, Brandi ML.
    J Bone Miner Res; 2004 Jun; 19(6):1013-7. PubMed ID: 15125799
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  • 4. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
    Hocking LJ, Lucas GJ, Daroszewska A, Cundy T, Nicholson GC, Donath J, Walsh JP, Finlayson C, Cavey JR, Ciani B, Sheppard PW, Searle MS, Layfield R, Ralston SH.
    J Bone Miner Res; 2004 Jul; 19(7):1122-7. PubMed ID: 15176995
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  • 5. Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
    Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ.
    J Bone Miner Res; 2003 Oct; 18(10):1748-53. PubMed ID: 14584883
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  • 6. 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, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL.
    J Bone Miner Res; 2007 Feb; 22(2):310-7. PubMed ID: 17129171
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  • 7. 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.
    J Bone Miner Res; 2009 Jul; 24(7):1216-23. PubMed ID: 19257822
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  • 8. Epidemiogenetic study of French families with Paget's disease of bone.
    Michou L, Collet C, Morissette J, Audran M, Thomas T, Gagnon E, Launay JM, Laplanche JL, Brown JP, Orcel P.
    Joint Bone Spine; 2012 Jul; 79(4):393-8. PubMed ID: 21962384
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  • 9. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
    Morissette J, Laurin N, Brown JP.
    J Bone Miner Res; 2006 Dec; 21 Suppl 2():P38-44. PubMed ID: 17229007
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  • 10. Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.
    Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R.
    J Bone Miner Res; 2005 Apr; 20(4):619-24. PubMed ID: 15765181
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  • 13. 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 SL, Walsh JP, Ward L, Yip K, Ward BK, Kent GN, Steer JH, Xu J, Ratajczak T.
    J Bone Miner Res; 2006 Jul; 21(7):1136-45. PubMed ID: 16813535
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  • 14. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
    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.
    Hum Mol Genet; 2002 Oct 15; 11(22):2735-9. PubMed ID: 12374763
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  • 15. 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, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.
    J Bone Miner Res; 2005 Feb 15; 20(2):227-31. PubMed ID: 15647816
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  • 20. Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.
    Rhodes EC, Johnson-Pais TL, Singer FR, Ankerst DP, Bruder JM, Wisdom J, Hoon DS, Lin E, Bone HG, Simcic KJ, Leach RJ.
    Calcif Tissue Int; 2008 Apr 15; 82(4):271-7. PubMed ID: 18379713
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