| 1 | PDB3, SQSTM1
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| A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.
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| Daroszewska A, van 't Hof RJ, Rojas JA, Layfield R, Landao-Basonga E, Rose L, Rose K, Ralston SH.
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| Hum Mol Genet 20(14):2734-44. Epub 2011 Apr 21.
2011
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| 2 | PDB3, SQSTM1, WDFY3
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| Functional interaction between sequestosome-1/p62 and autophagy-linked FYVE-containing protein WDFY3 in human osteoclasts.
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| Hocking LJ, Mellis DJ, McCabe PS, Helfrich MH, Rogers MJ.
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| Biochem Biophys Res Commun 402(3):543-8. Epub 2010 Oct 29. 2010
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| 3 | PDB3, SQSTM1
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| A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.
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| Hiruma Y, Kurihara N, Subler MA, Zhou H, Boykin CS, Zhang H, Ishizuka S, Dempster DW, Roodman GD, Windle JJ.
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| Hum Mol Genet 17(23):3708-19. Epub 2008 Sep 2.
2008
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| 4 | PDB3, SQSTM1
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| Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
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| Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL.
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| J Bone Miner Res 22(2):310-7.
2007
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| 5 | PDB3, SQSTM1
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| Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease.
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| Kurihara N, Hiruma Y, Zhou H, Subler MA, Dempster DW, Singer FR, Reddy SV, Gruber HE, Windle JJ, Roodman GD.
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| J Clin Invest 117(1):133-42. Epub 2006 Dec 21.
2007
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| 6 | SQSTM1, PDB3
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| 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.
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| Rea SL, Walsh JP, Ward L, Yip K, Ward BK, Kent GN, Steer JH, Xu J, Ratajczak T.
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| J Bone Miner Res 21(7):1136-45. 2006
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| 7 | PDB3, SQSTM1
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| Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
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| Morissette J, Laurin N, Brown JP.
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| J Bone Miner Res 21 Suppl 2:P38-44.
2006
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| 8 | PDB3, SQSTM1
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| Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations.
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| Leach RJ, Singer FR, Ench Y, Wisdom JH, Pina DS, Johnson-Pais TL.
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| J Bone Miner Res 21 Suppl 2:P45-50.
2006
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| 9 | SQSTM1, PDB3
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| Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.
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| Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.
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| J Bone Miner Res 20(2):227-31. Epub 2004 Nov 16. 2005
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| 10 | SQSTM1, PDB3
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| Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
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| 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.
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| J Bone Miner Res 19(7):1122-7. Epub 2004 Mar 22. 2004
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| 11 | SQSTM1, PDB3
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| 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).
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| 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.
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| J Bone Miner Res 19(6):1013-7. Epub 2004 Feb 2. 2004
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| 12 | PDB3, SQSTM1
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| Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
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| Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ.
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| J Bone Miner Res 18(10):1748-53. 2003
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| 13 | PDB2, PDB3, TNFRSF11A
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| Linkage of Paget disease of bone to a novel region on human chromosome 18q23.
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| Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT.
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| Am J Hum Genet 70(2):517-25. 2002
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| 14 | MAPK9, PDB3, SQSTM1
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| Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
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| Laurin N, Brown JP, Morissette J, Raymond V.
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| Am J Hum Genet 70(6):1582-8. 2002
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| 15 | PDB3, SQSTM1
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| Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
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| 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.
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| Hum Mol Genet 11(22):2735-9. 2002
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| 16 | PDB3, PDB4
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| Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.
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| Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, Lacourciere Y, Drapeau G, Verreault J, Raymond V, Morissette J.
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| Am J Hum Genet 69(3):528-43. 2001
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| 17 | PDB3, PDB6, PDB7
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| Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.
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| Hocking LJ, Herbert CA, Nicholls RK, Williams F, Bennett ST, Cundy T, Nicholson GC, Wuyts W, Van Hul W, Ralston SH.
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| Am J Hum Genet 69(5):1055-61. 2001
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