骨骼：所有佩吉特病风险基因都与破骨细胞有关吗？ - Suppr

Bone: Do all Paget disease risk genes incriminate the osteoclast?

作者信息

Singer Frederick R, Leach Robin J

机构信息

Endocrine/Bone Disease Program, John Wayne Cancer Institute at Saint John's Health Center, 2200 Santa Monica Boulevard, Santa Monica, CA 90404, USA.

出版信息

Nat Rev Rheumatol. 2010 Sep;6(9):502-3. doi: 10.1038/nrrheum.2010.137.

DOI:10.1038/nrrheum.2010.137

PMID:20808305

Abstract

摘要

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Bone: Do all Paget disease risk genes incriminate the osteoclast?

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J Clin Invest. 2007 Jan;117(1):133-42. doi: 10.1172/JCI28267. Epub 2006 Dec 21.

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Genetics and aetiology of Pagetic disorders of bone.

Arch Biochem Biophys. 2008 May 15;473(2):172-82. doi: 10.1016/j.abb.2008.02.045. Epub 2008 Mar 10.

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本文引用的文献

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562. Epub 2010 May 2.

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

J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31.

The molecular basis of frontotemporal dementia.

Expert Rev Mol Med. 2009 Jul 29;11:e23. doi: 10.1017/S1462399409001136.

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer.

Nat Genet. 2009 Aug;41(8):882-4. doi: 10.1038/ng.403. Epub 2009 Jun 28.

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

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

Absence of somatic SQSTM1 mutations in Paget's disease of bone.

J Clin Endocrinol Metab. 2009 Feb;94(2):691-4. doi: 10.1210/jc.2008-1140. Epub 2008 Nov 4.

Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.

Calcif Tissue Int. 2008 Apr;82(4):271-7. doi: 10.1007/s00223-008-9114-9. Epub 2008 Apr 1.

The influence of serum cytokines and growth factors on osteoclast formation in Paget's disease.

QJM. 2002 Apr;95(4):233-40. doi: 10.1093/qjmed/95.4.233.

Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Science. 2002 Feb 8;295(5557):1077-9. doi: 10.1126/science.1066901.

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Nat Genet. 2000 Jan;24(1):45-8. doi: 10.1038/71667.

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相似文献

Bone: Do all Paget disease risk genes incriminate the osteoclast?

Nat Rev Rheumatol. 2010 Sep;6(9):502-3. doi: 10.1038/nrrheum.2010.137.

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease.

J Clin Invest. 2007 Jan;117(1):133-42. doi: 10.1172/JCI28267. Epub 2006 Dec 21.

The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.

Hum Genet. 2010 Dec;128(6):615-26. doi: 10.1007/s00439-010-0888-2. Epub 2010 Sep 14.

Genetics of Paget's disease of bone.

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

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

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

[Paget disease of bone].

Nihon Rinsho. 2006 Jun 28;Suppl 2:139-42.

Pathogenesis of Paget's disease of bone.

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

[Paget's disease of bone: new therapeutic strategies].

Recenti Prog Med. 2013 Mar;104(3):89-92. doi: 10.1701/1255.13854.

Paget's disease: a clinical review.

Br J Hosp Med (Lond). 2015 Jan;76(1):25-30. doi: 10.12968/hmed.2015.76.1.25.

Genetics and aetiology of Pagetic disorders of bone.

Arch Biochem Biophys. 2008 May 15;473(2):172-82. doi: 10.1016/j.abb.2008.02.045. Epub 2008 Mar 10.

引用本文的文献

Visomitin Attenuates Pathological Bone Loss by Reprogramming Osteoclast Metabolism via the STAT3/LDHB Axis.

Research (Wash D C). 2025 Jul 22;8:0784. doi: 10.34133/research.0784. eCollection 2025.

Sigma-1 receptor attenuates osteoclastogenesis by promoting ER-associated degradation of SERCA2.

EMBO Mol Med. 2022 Jul 7;14(7):e15373. doi: 10.15252/emmm.202115373. Epub 2022 May 25.

HDAC6 regulates dental mesenchymal stem cells and osteoclast differentiation.

BMC Oral Health. 2018 Nov 21;18(1):190. doi: 10.1186/s12903-018-0624-1.

The osteoclast--what's new?

Skeletal Radiol. 2011 Sep;40(9):1137-40. doi: 10.1007/s00256-011-1180-9. Epub 2011 Aug 17.

本文引用的文献

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562. Epub 2010 May 2.

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

J Bone Miner Res. 2010 Jun;25(6):1375-84. doi: 10.1002/jbmr.31.

The molecular basis of frontotemporal dementia.

Expert Rev Mol Med. 2009 Jul 29;11:e23. doi: 10.1017/S1462399409001136.

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer.

Nat Genet. 2009 Aug;41(8):882-4. doi: 10.1038/ng.403. Epub 2009 Jun 28.

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

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

Absence of somatic SQSTM1 mutations in Paget's disease of bone.

J Clin Endocrinol Metab. 2009 Feb;94(2):691-4. doi: 10.1210/jc.2008-1140. Epub 2008 Nov 4.

Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.

Calcif Tissue Int. 2008 Apr;82(4):271-7. doi: 10.1007/s00223-008-9114-9. Epub 2008 Apr 1.

The influence of serum cytokines and growth factors on osteoclast formation in Paget's disease.

QJM. 2002 Apr;95(4):233-40. doi: 10.1093/qjmed/95.4.233.

Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Science. 2002 Feb 8;295(5557):1077-9. doi: 10.1126/science.1066901.

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Nat Genet. 2000 Jan;24(1):45-8. doi: 10.1038/71667.

Bone: Do all Paget disease risk genes incriminate the osteoclast?

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