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160 related items for PubMed ID: 15493999

  • 1. Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.
    Layfield R, Ciani B, Ralston SH, Hocking LJ, Sheppard PW, Searle MS, Cavey JR.
    Biochem Soc Trans; 2004 Nov; 32(Pt 5):728-30. PubMed ID: 15493999
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 78(5):271-7. PubMed ID: 16691492
    [Abstract] [Full Text] [Related]

  • 5. Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.
    Najat D, Garner T, Hagen T, Shaw B, Sheppard PW, Falchetti A, Marini F, Brandi ML, Long JE, Cavey JR, Searle MS, Layfield R.
    J Bone Miner Res; 2009 Apr; 24(4):632-42. PubMed ID: 19049332
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone.
    Ciani B, Layfield R, Cavey JR, Sheppard PW, Searle MS.
    J Biol Chem; 2003 Sep 26; 278(39):37409-12. PubMed ID: 12857745
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 21(7):1136-45. PubMed ID: 16813535
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 22(2):310-7. PubMed ID: 17129171
    [Abstract] [Full Text] [Related]

  • 11. SQSTM1 and Paget's disease of bone.
    Layfield R, Hocking LJ.
    Calcif Tissue Int; 2004 Nov 26; 75(5):347-57. PubMed ID: 15365659
    [Abstract] [Full Text] [Related]

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  • 13. p62 mutations, ubiquitin recognition and Paget's disease of bone.
    Layfield R, Cavey JR, Najat D, Long J, Sheppard PW, Ralston SH, Searle MS.
    Biochem Soc Trans; 2006 Nov 26; 34(Pt 5):735-7. PubMed ID: 17052185
    [Abstract] [Full Text] [Related]

  • 14. 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 26; 19(6):1013-7. PubMed ID: 15125799
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 18(10):1748-53. PubMed ID: 14584883
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 84(1):20-37. PubMed ID: 19067022
    [Abstract] [Full Text] [Related]

  • 17. 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 Jan 26; 7(6):R1289-95. PubMed ID: 16277682
    [Abstract] [Full Text] [Related]

  • 18. Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
    Goode A, Long JE, Shaw B, Ralston SH, Visconti MR, Gianfrancesco F, Esposito T, Gennari L, Merlotti D, Rendina D, Rea SL, Sultana M, Searle MS, Layfield R.
    Biochim Biophys Acta; 2014 Jul 26; 1842(7):992-1000. PubMed ID: 24642144
    [Abstract] [Full Text] [Related]

  • 19. Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals.
    Heinen C, Garner TP, Long J, Böttcher C, Ralston SH, Cavey JR, Searle MS, Layfield R, Dantuma NP.
    FEBS Lett; 2010 Apr 16; 584(8):1585-90. PubMed ID: 20230821
    [Abstract] [Full Text] [Related]

  • 20. Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.
    Long J, Gallagher TR, Cavey JR, Sheppard PW, Ralston SH, Layfield R, Searle MS.
    J Biol Chem; 2008 Feb 29; 283(9):5427-40. PubMed ID: 18083707
    [Abstract] [Full Text] [Related]

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