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Items: 1 to 20 of 134

1.

Genetics and aetiology of Pagetic disorders of bone.

Helfrich MH, Hocking LJ.

Arch Biochem Biophys. 2008 May 15;473(2):172-82. doi: 10.1016/j.abb.2008.02.045. Epub 2008 Mar 10. Review. Erratum in: Arch Biochem Biophys. 2008 Nov 1;479(1):104.

PMID:
18359282
2.

Mechanisms of disease: genetics of Paget's disease of bone and related disorders.

Daroszewska A, Ralston SH.

Nat Clin Pract Rheumatol. 2006 May;2(5):270-7. Review.

PMID:
16932700
3.

Genetics of Paget's disease of bone.

Daroszewska A, Ralston SH.

Clin Sci (Lond). 2005 Sep;109(3):257-63. Review.

PMID:
16104845
4.

Genetics of Paget's disease of bone.

Ralston SH, Albagha OM.

Curr Osteoporos Rep. 2014 Sep;12(3):263-71. doi: 10.1007/s11914-014-0219-y. Review.

PMID:
24988994
5.

Pathophysiology and genetics of metabolic bone disorders characterized by increased bone turnover.

Beyens G, Van Hul W.

Crit Rev Eukaryot Gene Expr. 2007;17(3):215-40. Review.

PMID:
17725490
6.

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects.

Simsek S, Basoski NM, Bravenboer N, Zhang X, Mumm S, Whyte MP, Netelenbos JC.

J Clin Endocrinol Metab. 2007 May;92(5):1897-901. Epub 2007 Feb 6.

PMID:
17284635
7.

Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma.

Sparks AB, Peterson SN, Bell C, Loftus BJ, Hocking L, Cahill DP, Frassica FJ, Streeten EA, Levine MA, Fraser CM, Adams MD, Broder S, Venter JC, Kinzler KW, Vogelstein B, Ralston SH.

Calcif Tissue Int. 2001 Mar;68(3):151-5.

PMID:
11351498
8.

Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders.

Ralston SH.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):101-11. doi: 10.1016/j.berh.2007.11.005. Review.

PMID:
18328984
9.

Pathogenesis of Paget's disease of bone.

Ralston SH.

Bone. 2008 Nov;43(5):819-25. doi: 10.1016/j.bone.2008.06.015. Epub 2008 Jul 11. Review.

PMID:
18672105
10.

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY, Van Hul W.

Semin Arthritis Rheum. 2012 Apr;41(5):619-41. doi: 10.1016/j.semarthrit.2011.07.005. Epub 2011 Sep 29. Review.

PMID:
21959292
11.

Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders.

Lucas GJ, Daroszewska A, Ralston SH.

J Bone Miner Res. 2006 Dec;21 Suppl 2:P31-7. Review.

12.

Etiologic factors in Paget's disease of bone.

Reddy SV.

Cell Mol Life Sci. 2006 Feb;63(4):391-8.

PMID:
16429324
13.

Recent advances in understanding the molecular basis of Paget disease of bone.

Goode A, Layfield R.

J Clin Pathol. 2010 Mar;63(3):199-203. doi: 10.1136/jcp.2009.064428. Epub 2009 Oct 26. Review.

PMID:
19858527
14.

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

Daroszewska A, van 't Hof RJ, Rojas JA, Layfield R, Landao-Basonga E, Rose L, Rose K, Ralston SH.

Hum Mol Genet. 2011 Jul 15;20(14):2734-44. doi: 10.1093/hmg/ddr172. Epub 2011 Apr 21.

PMID:
21515589
15.

Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone.

Merchant A, Smielewska M, Patel N, Akunowicz JD, Saria EA, Delaney JD, Leach RJ, Seton M, Hansen MF.

J Bone Miner Res. 2009 Mar;24(3):484-94. doi: 10.1359/jbmr.081105.

16.

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE.

Bone. 2006 Feb;38(2):280-5. Epub 2005 Sep 30.

PMID:
16199218
17.

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

Rea SL, Walsh JP, Layfield R, Ratajczak T, Xu J.

Endocr Rev. 2013 Aug;34(4):501-24. doi: 10.1210/er.2012-1034. Epub 2013 Apr 23. Review.

PMID:
23612225
18.

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Whyte MP, Tau C, McAlister WH, Zhang X, Novack DV, Preliasco V, Santini-Araujo E, Mumm S.

Bone. 2014 Nov;68:153-61. doi: 10.1016/j.bone.2014.07.019. Epub 2014 Jul 23.

19.

Gene expression profile in osteoclasts from patients with Paget's disease of bone.

Michou L, Chamoux E, Couture J, Morissette J, Brown JP, Roux S.

Bone. 2010 Mar;46(3):598-603. doi: 10.1016/j.bone.2009.11.012. Epub 2009 Nov 17. Erratum in: Bone. 2010 Jun;46(6):1668-9.

20.

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.

Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, Weihl CC.

J Cell Biol. 2009 Dec 14;187(6):875-88. doi: 10.1083/jcb.200908115.

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