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Journal Abstract Search

321 related items for PubMed ID: 14584883

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  • 3. 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; 20(2):227-31. PubMed ID: 15647816
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  • 6. 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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  • 11. 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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  • 13. 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 Dec; 7(6):R1289-95. PubMed ID: 16277682
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  • 14. 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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  • 16. 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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  • 17. Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.
    Michou L, Morissette J, Gagnon ER, Marquis A, Dellabadia M, Brown JP, Siris ES.
    Bone; 2011 Mar 01; 48(3):456-60. PubMed ID: 21073987
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  • 18. Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone.
    Cavey JR, Ralston SH, Sheppard PW, Ciani B, Gallagher TR, Long JE, Searle MS, Layfield R.
    Calcif Tissue Int; 2006 May 01; 78(5):271-7. PubMed ID: 16691492
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