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    Results: 1 to 20 of 268

    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. Epub 2005 Sep 15.

    PMID:
    16277682
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    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. Epub 2008 Dec 9.

    PMID:
    19067022
    [PubMed - indexed for MEDLINE]
    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. Epub 2004 Feb 2.

    PMID:
    15125799
    [PubMed - indexed for MEDLINE]
    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. Epub 2004 Mar 22.

    PMID:
    15176995
    [PubMed - indexed for MEDLINE]
    5.

    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.

    PMID:
    17129171
    [PubMed - indexed for MEDLINE]
    6.

    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.

    PMID:
    14584883
    [PubMed - indexed for MEDLINE]
    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.

    PMID:
    19257822
    [PubMed - indexed for MEDLINE]
    8.

    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.

    PMID:
    12374763
    [PubMed - indexed for MEDLINE]
    Free Article
    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.

    PMID:
    17229007
    [PubMed - indexed for MEDLINE]
    10.

    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. Epub 2004 Nov 16.

    PMID:
    15647816
    [PubMed - indexed for MEDLINE]
    11.

    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. Epub 2004 Dec 6.

    PMID:
    15765181
    [PubMed - indexed for MEDLINE]
    12.

    SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

    Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G.

    J Bone Miner Res. 2010 Jun;25(6):1375-84.

    PMID:
    20200946
    [PubMed - indexed for MEDLINE]
    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.

    PMID:
    16813535
    [PubMed - indexed for MEDLINE]
    14.

    Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

    Good DA, Busfield F, Fletcher BH, Lovelock PK, Duffy DL, Kesting JB, Andersen J, Shaw JT.

    Bone. 2004 Jul;35(1):277-82.

    PMID:
    15207768
    [PubMed - indexed for MEDLINE]
    15.

    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.

    PMID:
    19049332
    [PubMed - indexed for MEDLINE]
    16.

    Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.

    Eekhoff EW, Karperien M, Houtsma D, Zwinderman AH, Dragoiescu C, Kneppers AL, Papapoulos SE.

    Arthritis Rheum. 2004 May;50(5):1650-4. Erratum in: Arthritis Rheum. 2004 Jun;50(6):2040.

    PMID:
    15146436
    [PubMed - indexed for MEDLINE]
    Free Article
    17.

    Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

    Beyens G, Van Hul E, Van Driessche K, Fransen E, Devogelaer JP, Vanhoenacker F, Van Offel J, Verbruggen L, De Clerck L, Westhovens R, Van Hul W.

    Calcif Tissue Int. 2004 Aug;75(2):144-52. Epub 2004 May 20.

    PMID:
    15164150
    [PubMed - indexed for MEDLINE]
    18.

    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;82(4):271-7. Epub 2008 Apr 1.

    PMID:
    18379713
    [PubMed - indexed for MEDLINE]
    19.

    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 1;48(3):456-60. Epub 2010 Nov 10.

    PMID:
    21073987
    [PubMed - indexed for MEDLINE]
    20.

    The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.

    Chamoux E, Couture J, Bisson M, Morissette J, Brown JP, Roux S.

    Mol Endocrinol. 2009 Oct;23(10):1668-80. Epub 2009 Jul 9.

    PMID:
    19589897
    [PubMed - indexed for MEDLINE]
    Free Article

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