메뉴 건너뛰기




Volumn 9, Issue 10, 2013, Pages 573-583

Insights from human genetic studies into the pathways involved in osteoarthritis

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; GROWTH DIFFERENTIATION FACTOR 5; HISTONE DEACETYLASE 4; SCLEROPROTEIN; SMAD3 PROTEIN; THYROID HORMONE; THYROXINE DEIODINASE; TRANSCRIPTION FACTOR RUNX2;

EID: 84885308609     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2013.121     Document Type: Review
Times cited : (70)

References (116)
  • 1
    • 84874041956 scopus 로고    scopus 로고
    • The genetics and functional analysis of primary osteoarthritis susceptibility
    • Reynard, L. N. & Loughlin, J. The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev. Mol. Med. 15, e2 (2013).
    • (2013) Expert Rev. Mol. Med. , vol.15
    • Reynard, L.N.1    Loughlin, J.2
  • 2
    • 84857688692 scopus 로고    scopus 로고
    • Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
    • Jackson, G. C. et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum. Mutat. 33, 144-157 (2012).
    • (2012) Hum. Mutat. , vol.33 , pp. 144-157
    • Jackson, G.C.1
  • 3
    • 84865595151 scopus 로고    scopus 로고
    • Identification of new susceptibility loci for osteoarthritis (arcOGEN): A genome-wide association study
    • arcOGEN Consortium and arcOGEN Collaborators
    • arcOGEN Consortium and arcOGEN Collaborators. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 380, 815-823 (2012).
    • (2012) Lancet , vol.380 , pp. 815-823
  • 4
    • 70350666382 scopus 로고    scopus 로고
    • Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma
    • Yasuda, T. et al. Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma. Mod. Pathol. 22, 1499-1506 (2009).
    • (2009) Mod. Pathol. , vol.22 , pp. 1499-1506
    • Yasuda, T.1
  • 5
    • 79953309875 scopus 로고    scopus 로고
    • Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study
    • Panoutsopoulou K. et al. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann. Rheum. Dis. 70, 864-867 (2011).
    • (2011) Ann. Rheum. Dis. , vol.70 , pp. 864-867
    • Panoutsopoulou, K.1
  • 6
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang, D. W., Sherman, B. T. & Lempicki, R. A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
    • (2009) Nat. Protoc. , vol.4 , pp. 44-57
    • Huang, D.W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 8
    • 83455244821 scopus 로고    scopus 로고
    • The skeleton: A multi-functional complex organ: The growth plate chondrocyte and endochondral ossification
    • Mackie, E. J., Tatarczuch, L. & Mirams, M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. J. Endocrinol. 211, 109-121 (2011).
    • (2011) J. Endocrinol. , vol.211 , pp. 109-121
    • MacKie, E.J.1    Tatarczuch, L.2    Mirams, M.3
  • 9
    • 79952637781 scopus 로고    scopus 로고
    • Hypertrophic differentiation of chondrocytes in osteoarthritis: The developmental aspect of degenerative joint disorders
    • Dreier, R. Hypertrophic differentiation of chondrocytes in osteoarthritis: the developmental aspect of degenerative joint disorders. Arthritis Res. Ther. 12, 216 (2010).
    • (2010) Arthritis Res. Ther. , vol.12 , pp. 216
    • Dreier, R.1
  • 10
    • 75749110202 scopus 로고    scopus 로고
    • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
    • Kerkhof, H. J. et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum. 62, 499-510 (2010).
    • (2010) Arthritis Rheum. , vol.62 , pp. 499-510
    • Kerkhof, H.J.1
  • 11
    • 80052736294 scopus 로고    scopus 로고
    • A variant in MCF2L is associated with osteoarthritis
    • Day-Williams, A. G. et al. A variant in MCF2L is associated with osteoarthritis. Am. J. Hum. Genet. 89, 446-450 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 446-450
    • Day-Williams, A.G.1
  • 13
    • 60249098721 scopus 로고    scopus 로고
    • Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes on osteoarthritis pathophysiology
    • Geyer, M. et al. Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes on osteoarthritis pathophysiology. Osteoarthritis Cartilage 17, 328-335 (2009).
    • (2009) Osteoarthritis Cartilage , vol.17 , pp. 328-335
    • Geyer, M.1
  • 14
    • 77950021301 scopus 로고    scopus 로고
    • Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis
    • Karlsson, C. et al. Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis. Osteoarthritis Cartilage 18, 581-592 (2010).
    • (2010) Osteoarthritis Cartilage , vol.18 , pp. 581-592
    • Karlsson, C.1
  • 15
    • 84864383496 scopus 로고    scopus 로고
    • Identification of the pathogenic pathways in osteoarthritic hip cartilage: Commonality and discord between hip and knee OA
    • Xu, Y. et al. Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA. Osteoarthritis Cartilage 20, 1029-1038 (2012).
    • (2012) Osteoarthritis Cartilage , vol.20 , pp. 1029-1038
    • Xu, Y.1
  • 16
    • 84869003760 scopus 로고    scopus 로고
    • Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis
    • Leijten, J. C. et al. Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis. Arthritis Rheum. 64, 3302-3312 (2012).
    • (2012) Arthritis Rheum. , vol.64 , pp. 3302-3312
    • Leijten, J.C.1
  • 17
    • 13444256205 scopus 로고    scopus 로고
    • Molecular mechanisms of endochondral bone development
    • DOI 10.1016/j.bbrc.2004.11.068, Vertebrate Skeletal Biology
    • Provot, S. & Schipani, E. Molecular mechanisms of endochondral bone development. Biochem. Biophys. Res. Commun. 328, 658-665 (2005). (Pubitemid 40208303)
    • (2005) Biochemical and Biophysical Research Communications , vol.328 , Issue.3 , pp. 658-665
    • Provot, S.1    Schipani, E.2
  • 18
    • 26244431932 scopus 로고    scopus 로고
    • Maintenance of chondroitin sulfation balance by chondroitin-4- sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis
    • DOI 10.1242/dev.01948
    • Klüppel, M. et al. Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development 132, 3989-4003 (2005). (Pubitemid 41410261)
    • (2005) Development , vol.132 , Issue.17 , pp. 3989-4003
    • Kluppel, M.1    Wight, T.N.2    Chan, C.3    Hinek, A.4    Wrana, J.L.5
  • 19
    • 33645082395 scopus 로고    scopus 로고
    • PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and-independent pathways
    • Guo, J. et al. PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and-independent pathways. Dev. Biol. 292, 116-128 (2006).
    • (2006) Dev. Biol. , vol.292 , pp. 116-128
    • Guo, J.1
  • 21
    • 84856971211 scopus 로고    scopus 로고
    • C/EBP and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2 as the inducer in chondrocytes
    • Hirata, M. et al. C/EBP and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2 as the inducer in chondrocytes. Hum. Mol. Genet. 21, 1111-1123 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 1111-1123
    • Hirata, M.1
  • 22
    • 72449129934 scopus 로고    scopus 로고
    • Regulation of bone development and extracellular matrix protein genes by RUNX2
    • Komori, T. Regulation of bone development and extracellular matrix protein genes by RUNX2. Cell Tissue Res. 339, 189-195 (2010).
    • (2010) Cell Tissue Res. , vol.339 , pp. 189-195
    • Komori, T.1
  • 23
    • 0035795405 scopus 로고    scopus 로고
    • Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes
    • Ueta, C. et al. Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes. J. Cell Biol. 153, 87-100 (2001).
    • (2001) J. Cell Biol. , vol.153 , pp. 87-100
    • Ueta, C.1
  • 26
    • 0033014044 scopus 로고    scopus 로고
    • Regulation of chondrocyte differentiation by Cbfa1
    • DOI 10.1016/S0925-4773(98)00210-X, PII S092547739800210X
    • Kim, I. S. et al. Regulation of chondrocyte differentiation by Cbfa1. Mech. Dev. 80, 159-170 (1999). (Pubitemid 29125427)
    • (1999) Mechanisms of Development , vol.80 , Issue.2 , pp. 159-170
    • Kim, I.S.1    Otto, F.2    Zabel, B.3    Mundlos, S.4
  • 29
    • 0030024311 scopus 로고    scopus 로고
    • Degradation of cartilage aggrecan by collagenase-3 (MMP-13)
    • DOI 10.1016/0014-5793(95)01539-6
    • Fosang, A. J. et al. Degradation of cartilage aggrecan by collagenase-3 (MMP-13). FEBS. Lett. 380, 17-20 (1996). (Pubitemid 26058726)
    • (1996) FEBS Letters , vol.380 , Issue.1-2 , pp. 17-20
    • Fosang, A.J.1    Last, K.2    Knauper, V.3    Murphy, G.4    Neame, P.J.5
  • 30
    • 84855825971 scopus 로고    scopus 로고
    • Molecular differentiation between osteophytic and articular cartilage-clues for a transient and permanent chondrocyte phenotype
    • Gelse, K. et al. Molecular differentiation between osteophytic and articular cartilage-clues for a transient and permanent chondrocyte phenotype. Osteoarthritis Cartilage 20, 162-171 (2012).
    • (2012) Osteoarthritis Cartilage , vol.20 , pp. 162-171
    • Gelse, K.1
  • 31
    • 0029750190 scopus 로고    scopus 로고
    • Regulation of rate of cartilage differentiation by Indian Hedgehog and PTH-related protein
    • Vortkamp, A. et al. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613-622 (1996). (Pubitemid 26262108)
    • (1996) Science , vol.273 , Issue.5275 , pp. 613-622
    • Vortkamp, A.1    Lee, K.2    Lanske, B.3    Segre, G.V.4    Kronenberg, H.M.5    Tabin, C.J.6
  • 32
    • 0036023342 scopus 로고    scopus 로고
    • TGFβ2 mediates the effects of Hedgehog on hypertrophic differentiation and PTHrP expression
    • Alvarez, J. et al. TGF2 mediates the effects of hedgehog on hypertrophic differentiation and PTHrP expression. Development 129, 1913-1924 (2002). (Pubitemid 34874206)
    • (2002) Development , vol.129 , Issue.8 , pp. 1913-1924
    • Alvarez, J.1    Sohn, P.2    Zeng, X.3    Doetschman, T.4    Robbins, D.J.5    Serra, R.6
  • 34
    • 84866145957 scopus 로고    scopus 로고
    • Parathyroid hormone-related protein: An update
    • Wysolmerski, J. J. Parathyroid hormone-related protein: an update. J. Clin. Endocrinol. Metab. 97, 2947-2956 (2012).
    • (2012) J. Clin. Endocrinol. Metab. , vol.97 , pp. 2947-2956
    • Wysolmerski, J.J.1
  • 35
    • 46749111932 scopus 로고    scopus 로고
    • Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy
    • DOI 10.1242/dev.018044
    • Mak, K. K., Kronenberg, H. M., Chuang, P. T., Mackem, S. & Yang, Y. Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy. Development 135, 1947-1956 (2008). (Pubitemid 351943359)
    • (2008) Development , vol.135 , Issue.11 , pp. 1947-1956
    • Mak, K.K.1    Kronenberg, H.M.2    Chuang, P.-T.3    Mackem, S.4    Yang, Y.5
  • 37
    • 78651087393 scopus 로고    scopus 로고
    • Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life
    • Hirai, T. et al. Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life. Proc. Natl Acad. Sci. USA 108, 191-196 (2011).
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 191-196
    • Hirai, T.1
  • 38
    • 4043062888 scopus 로고    scopus 로고
    • Parathyroid hormone-related peptide (PTHrP) inhibits Runx2 expression through the PKA signaling pathway
    • Li, T. F. et al. Parathyroid hormone-related peptide (PTHrP) inhibits Runx2 expression through the PKA signaling pathway. Exp. Cell Res. 299, 128-136 (2004).
    • (2004) Exp. Cell Res. , vol.299 , pp. 128-136
    • Li, T.F.1
  • 39
    • 70350547780 scopus 로고    scopus 로고
    • Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway
    • Kozhemyakina, E. et al. Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway. Mol. Cell Biol. 29, 5751-5762 (2009).
    • (2009) Mol. Cell Biol. , vol.29 , pp. 5751-5762
    • Kozhemyakina, E.1
  • 40
    • 67650538541 scopus 로고    scopus 로고
    • PTHrP prevents chondrocyte premature hypertrophy by inducing cyclin-D1-dependent Runx2 and Runx3 phosphorylation, ubiquitylation and proteasomal degradation
    • Zhang, M. et al. PTHrP prevents chondrocyte premature hypertrophy by inducing cyclin-D1-dependent Runx2 and Runx3 phosphorylation, ubiquitylation and proteasomal degradation. J. Cell Sci. 122, 1382-1389 (2009).
    • (2009) J. Cell Sci. , vol.122 , pp. 1382-1389
    • Zhang, M.1
  • 41
    • 38349166916 scopus 로고    scopus 로고
    • Interaction between zonal populations of articular chondrocytes suppresses chondrocyte mineralization and this process is mediated by PTHrP
    • Jiang, J. et al. Interaction between zonal populations of articular chondrocytes suppresses chondrocyte mineralization and this process is mediated by PTHrP. Osteoarthritis Cartilage 16, 70-82 (2008).
    • (2008) Osteoarthritis Cartilage , vol.16 , pp. 70-82
    • Jiang, J.1
  • 43
    • 33744917275 scopus 로고    scopus 로고
    • Effects of arginine-vasopressin and parathyroid hormone-related protein (1-34) on cell proliferation and production of YKL-40 in cultured chondrocytes from patients with rheumatoid arthritis and osteoarthritis
    • DOI 10.1016/j.joca.2006.01.003, PII S1063458406000045
    • Petersson, M. et al. Effects of arginine-vasopressin and parathyroid hormone-related protein (1-34) on cell proliferation and production of YKL-40 in cultured chondrocytes from patients with rheumatoid arthritis and osteoarthritis. Osteoarthritis Cartilage 14, 652-659 (2006). (Pubitemid 43842729)
    • (2006) Osteoarthritis and Cartilage , vol.14 , Issue.7 , pp. 652-659
    • Petersson, M.1    Bucht, E.2    Granberg, B.3    Stark, A.4
  • 44
    • 77951214450 scopus 로고    scopus 로고
    • Decrease in the expression of the type 1 PTH/PTHrP receptor (PTH1R) on chondrocytes in animals with osteoarthritis
    • Becher, C. et al. Decrease in the expression of the type 1 PTH/PTHrP receptor (PTH1R) on chondrocytes in animals with osteoarthritis. J. Orthop. Surg. Res. 5, 28 (2010).
    • (2010) J. Orthop. Surg. Res. , vol.5 , pp. 28
    • Becher, C.1
  • 45
    • 79960978993 scopus 로고    scopus 로고
    • The expression of SOX trio PTHrP (parathyroid hormone-related peptide)/IHH (Indian hedgehog protein) in surgically induced osteoarthritis of the rat
    • Kim, S. Y. & Im, G. I. The expression of SOX trio, PTHrP (parathyroid hormone-related peptide)/IHH (Indian hedgehog protein) in surgically induced osteoarthritis of the rat. Cell Biol. Int. 35, 529-535 (2011).
    • (2011) Cell Biol. Int. , vol.35 , pp. 529-535
    • Kim, S.Y.1    Im, G.I.2
  • 46
    • 0033577851 scopus 로고    scopus 로고
    • Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor β (TGF-β)on endochondral bone formation
    • DOI 10.1083/jcb.145.4.783
    • Serra, R., Karaplis, A. & Sohn, P. Parathyroid hormone-related peptide (PTHrP)-dependent and-independent effects of transforming growth factor beta (TGF-) on endochondral bone formation. J. Cell Biol. 145, 783-794 (1999). (Pubitemid 29240855)
    • (1999) Journal of Cell Biology , vol.145 , Issue.4 , pp. 783-794
    • Serra, R.1    Karaplis, A.2    Sohn, P.3
  • 47
    • 84869050198 scopus 로고    scopus 로고
    • Chondrocyte-intrinsic Smad3 represses Runx2-indicible matrix metalloproteinase 13 expression to maintain articular cartilage and prevent osteoarthritis
    • Chen, C. G. et al. Chondrocyte-intrinsic Smad3 represses Runx2-indicible matrix metalloproteinase 13 expression to maintain articular cartilage and prevent osteoarthritis. Arthritis Rheum. 64, 3278-3289 (2012).
    • (2012) Arthritis Rheum. , vol.64 , pp. 3278-3289
    • Chen, C.G.1
  • 48
    • 67649216115 scopus 로고    scopus 로고
    • Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice
    • Blaney Davidson, E. N. et al. Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice. J. Immunol. 182, 7937-7945 (2009).
    • (2009) J. Immunol. , vol.182 , pp. 7937-7945
    • Blaney Davidson, E.N.1
  • 49
    • 0035795409 scopus 로고    scopus 로고
    • TGF-β/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage
    • DOI 10.1083/jcb.153.1.35
    • Yang, X. et al. TGF-/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J. Cell Biol. 153, 35-46 (2001). (Pubitemid 34280192)
    • (2001) Journal of Cell Biology , vol.153 , Issue.1 , pp. 35-46
    • Yang, X.1    Chen, L.2    Xu, X.3    Li, C.4    Huang, C.5    Deng, C.-X.6
  • 50
    • 54949147630 scopus 로고    scopus 로고
    • Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice
    • Wu, Q. et al. Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice. Arthritis Rheum. 58, 3132-3144 (2008).
    • (2008) Arthritis Rheum. , vol.58 , pp. 3132-3144
    • Wu, Q.1
  • 51
    • 79251602475 scopus 로고    scopus 로고
    • Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
    • van de Laar, I. M. et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43, 121-126 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 121-126
    • Van De Laar, I.M.1
  • 52
    • 77955365705 scopus 로고    scopus 로고
    • Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis
    • Valdes, A. M. et al. Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis. Arthritis Rheum. 62, 2347-2352 (2010).
    • (2010) Arthritis Rheum. , vol.62 , pp. 2347-2352
    • Valdes, A.M.1
  • 55
    • 0037330644 scopus 로고    scopus 로고
    • Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes
    • Settle, S. H. et al. Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev. Biol. 254, 116-130 (2003).
    • (2003) Dev. Biol. , vol.254 , pp. 116-130
    • Settle, S.H.1
  • 57
    • 84879360696 scopus 로고    scopus 로고
    • Growth differentiation factor-5 enhances in vitro mesenchymal stromal cell chondrogenesis and hypertrophy
    • Coleman, C. M. et al. Growth differentiation factor-5 enhances in vitro mesenchymal stromal cell chondrogenesis and hypertrophy. Stem Cells Dev. 22, 1968-1976 (2013).
    • (2013) Stem Cells Dev. , vol.22 , pp. 1968-1976
    • Coleman, C.M.1
  • 58
    • 0031464970 scopus 로고    scopus 로고
    • Cartilage-derived morphogenetic protein-1
    • DOI 10.1016/S1357-2725(97)00025-3, PII S1357272597000253
    • Luyten, F. P. Cartilage-derived morphogenetic protein-1. Int. J. Biochem. Cell Biol. 29, 1241-1244 (1997). (Pubitemid 28021709)
    • (1997) International Journal of Biochemistry and Cell Biology , vol.29 , Issue.11 , pp. 1241-1244
    • Luyten, F.P.1
  • 59
    • 38149128180 scopus 로고    scopus 로고
    • Differentially regulated expression of growth differentiation factor 5 and bone morphogenetic protein 7 in articular cartilage and synovium in murine chronic arthritis: Potential importance for cartilage breakdown and synovial hypertrophy
    • Bobacz, K. et al. Differentially regulated expression of growth differentiation factor 5 and bone morphogenetic protein 7 in articular cartilage and synovium in murine chronic arthritis: potential importance for cartilage breakdown and synovial hypertrophy. Arthritis Rheum. 58, 109-118 (2008).
    • (2008) Arthritis Rheum. , vol.58 , pp. 109-118
    • Bobacz, K.1
  • 60
    • 67650074525 scopus 로고    scopus 로고
    • Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism
    • Egli, R. et al. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum. 60, 2055-2064 (2009).
    • (2009) Arthritis Rheum. , vol.60 , pp. 2055-2064
    • Egli, R.1
  • 61
    • 78650666914 scopus 로고    scopus 로고
    • GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes
    • Daans, M., Luyten, F. P. & Lories, R. J. GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes. Ann. Rheum. Dis. 70, 208-213 (2011).
    • (2011) Ann. Rheum. Dis. , vol.70 , pp. 208-213
    • Daans, M.1    Luyten, F.P.2    Lories, R.J.3
  • 62
    • 0033672686 scopus 로고    scopus 로고
    • Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase
    • Okuda, T. et al. Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase. J. Biochem. 128, 763-770 (2000).
    • (2000) J. Biochem. , vol.128 , pp. 763-770
    • Okuda, T.1
  • 63
    • 56649100319 scopus 로고    scopus 로고
    • The structure of glycosaminoglycans and their interactions with proteins
    • Gandhi, N. S. & Mancera, R. L. The structure of glycosaminoglycans and their interactions with proteins. Chem. Biol. Drug Des. 72, 455-482 (2008).
    • (2008) Chem. Biol. Drug Des. , vol.72 , pp. 455-482
    • Gandhi, N.S.1    Mancera, R.L.2
  • 64
    • 77958178805 scopus 로고    scopus 로고
    • The roles of chondroitin-4-sulfotransferase-1 in development and disease
    • Klüppel, M. The roles of chondroitin-4-sulfotransferase-1 in development and disease. Prog. Mol. Biol. Transl. Sci. 93, 113-132 (2010).
    • (2010) Prog. Mol. Biol. Transl. Sci. , vol.93 , pp. 113-132
    • Klüppel, M.1
  • 65
    • 68549083862 scopus 로고    scopus 로고
    • Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate
    • Cortes, M., Baria, A. T. & Schwartz, N. B. Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate. Development 136, 1697-1706 (2009).
    • (2009) Development , vol.136 , pp. 1697-1706
    • Cortes, M.1    Baria, A.T.2    Schwartz, N.B.3
  • 67
    • 84862565364 scopus 로고    scopus 로고
    • Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues
    • Bos, S. D. et al. Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Ann. Rheum. Dis. 71, 1254-1258 (2012).
    • (2012) Ann. Rheum. Dis. , vol.71 , pp. 1254-1258
    • Bos, S.D.1
  • 68
    • 33947139620 scopus 로고    scopus 로고
    • Thyroid hormone and the growth plate
    • DOI 10.1007/s11154-006-9012-2, Special issue on Growth and Development, Guest editor: John Fowlkes
    • Shao, Y. Y., Wang, L. & Ballock, R. T. Thyroid hormone and the growth plate. Rev. Endocr. Metab. Disord. 7, 265-271 (2006). (Pubitemid 46399310)
    • (2006) Reviews in Endocrine and Metabolic Disorders , vol.7 , Issue.4 , pp. 265-271
    • Shao, Y.Y.1    Wang, L.2    Ballock, R.T.3
  • 69
    • 38749083863 scopus 로고    scopus 로고
    • Thyroid hormone interacts with the Wnt/β-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes
    • DOI 10.1359/jbmr.070806
    • Wang, L., Shao, Y. Y. & Ballock, R. T. Thyroid hormone interacts with the Wnt-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes. J. Bone Miner. Res. 22, 1988-1995 (2007). (Pubitemid 351229315)
    • (2007) Journal of Bone and Mineral Research , vol.22 , Issue.12 , pp. 1988-1995
    • Wang, L.1    Shao, Y.Y.2    Ballock, R.T.3
  • 70
    • 46549085914 scopus 로고    scopus 로고
    • Iodothyronine deiodinase enzyme activities in bone
    • Williams, A. J. et al. Iodothyronine deiodinase enzyme activities in bone. Bone 43, 126-134 (2008).
    • (2008) Bone , vol.43 , pp. 126-134
    • Williams, A.J.1
  • 71
    • 77952140653 scopus 로고    scopus 로고
    • Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase is osteoblasts
    • Bassett, J. H. et al. Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase is osteoblasts. Proc. Natl Acad. Sci. USA 107, 7604-7609 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 7604-7609
    • Bassett, J.H.1
  • 72
    • 84873164102 scopus 로고    scopus 로고
    • Deiodinase 2 upregulation demonstrated in osteoarthritis patients cartilage causes cartilage destruction in tissue-specific transgenic rats
    • Nagase, H. et al. Deiodinase 2 upregulation demonstrated in osteoarthritis patients cartilage causes cartilage destruction in tissue-specific transgenic rats. Osteoarthritis Cartilage 21, 514-523 (2013).
    • (2013) Osteoarthritis Cartilage , vol.21 , pp. 514-523
    • Nagase, H.1
  • 73
    • 84859510224 scopus 로고    scopus 로고
    • Notch and the p53 clan of transcription factors
    • Roemer, K. Notch and the p53 clan of transcription factors. Adv. Exp. Med. Biol. 727, 223-240 (2012).
    • (2012) Adv. Exp. Med. Biol. , vol.727 , pp. 223-240
    • Roemer, K.1
  • 74
    • 80052657539 scopus 로고    scopus 로고
    • A symphony of regulators centered on p63 to control development of ectoderm-derived structures
    • Guerrini, L, Costanzo, A. & Merlo, G. R. A symphony of regulators centered on p63 to control development of ectoderm-derived structures. J. Biomed. Biotechnol. 2011, 864904 (2011).
    • (2011) J. Biomed. Biotechnol. , vol.2011 , pp. 864904
    • Guerrini, L.1    Costanzo, A.2    Merlo, G.R.3
  • 75
    • 84859433312 scopus 로고    scopus 로고
    • Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs
    • Barter, M. J., Bui, C. & Young, D. A. Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs. Osteoarthritis Cartilage 20, 339-349 (2012).
    • (2012) Osteoarthritis Cartilage , vol.20 , pp. 339-349
    • Barter, M.J.1    Bui, C.2    Young, D.A.3
  • 76
    • 79959960773 scopus 로고    scopus 로고
    • The diverse functions of Dot1 and H3K79 methylation
    • Nguyen, A. T. & Zhang, Y. The diverse functions of Dot1 and H3K79 methylation. Genes Dev. 25, 1345-1358 (2011).
    • (2011) Genes Dev. , vol.25 , pp. 1345-1358
    • Nguyen, A.T.1    Zhang, Y.2
  • 77
    • 84861422537 scopus 로고    scopus 로고
    • Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
    • Castaño Betancourt, M. C. et al. Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc. Natl Acad. Sci. USA 109, 8218-8223 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 8218-8223
    • Castaño Betancourt, M.C.1
  • 78
    • 84878406779 scopus 로고    scopus 로고
    • The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males
    • Evangelou, E. et al. The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males. Ann. Rheum. Dis. 72, 1264-1265 (2013).
    • (2013) Ann. Rheum. Dis. , vol.72 , pp. 1264-1265
    • Evangelou, E.1
  • 79
    • 55249086064 scopus 로고    scopus 로고
    • New insights into osteoarthritis: Early developmental features of an aging-related disease
    • Bos, S. D., Slagboom, P. E. & Meulenbelt, I. New insights into osteoarthritis: early developmental features of an aging-related disease. Curr. Opin. Rheumatol. 20, 553-559 (2008).
    • (2008) Curr. Opin. Rheumatol. , vol.20 , pp. 553-559
    • Bos, S.D.1    Slagboom, P.E.2    Meulenbelt, I.3
  • 80
    • 84870531924 scopus 로고    scopus 로고
    • High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
    • Eyre, S. et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat. Genet. 44, 1336-1340 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 1336-1340
    • Eyre, S.1
  • 81
    • 49849099211 scopus 로고    scopus 로고
    • Targeting transcription factors for therapeutic benefit
    • Brennan, P., Donev, R. & Hewamana, S. Targeting transcription factors for therapeutic benefit. Mol. Biosyst. 4, 909-919 (2008).
    • (2008) Mol. Biosyst. , vol.4 , pp. 909-919
    • Brennan, P.1    Donev, R.2    Hewamana, S.3
  • 82
    • 32044434958 scopus 로고    scopus 로고
    • Decoy molecules based on PNA-DNA chimeras and targeting Sp1 transcription factors inhibit the activity of urokinase-type plasminogen activator receptor (uPAR) promoter
    • Borgatti, M. et al. Decoy molecules based on PNA-DNA chimeras and targeting Sp1 transcription factors inhibit the activity of urokinase-type plasminogen activator receptor (uPAR) promoter. Oncol. Res. 15, 373-383 (2005). (Pubitemid 43198594)
    • (2005) Oncology Research , vol.15 , Issue.7-8 , pp. 373-383
    • Borgatti, M.1    Boyd, D.D.2    Lampronti, I.3    Bianchi, N.4    Fabbri, E.5    Saviano, M.6    Romanelli, A.7    Pedone, C.8    Gambari, R.9
  • 83
    • 84879671961 scopus 로고    scopus 로고
    • The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383
    • Syddall, C. M., Reynard, L. N., Young, D. A. & Loughlin, J. The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet. 9, e1003557 (2013).
    • (2013) PLoS Genet. , vol.9
    • Syddall, C.M.1    Reynard, L.N.2    Young, D.A.3    Loughlin, J.4
  • 84
    • 84860331458 scopus 로고    scopus 로고
    • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
    • Estrada, K. et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat. Genet. 44, 491-501 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 491-501
    • Estrada, K.1
  • 85
    • 45149117995 scopus 로고    scopus 로고
    • Family-based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD
    • DOI 10.1111/j.1469-1809.2008.00441.x
    • Ermakov, S. et al. Family-based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD. Ann. Hum. Genet. 72, 510-518 (2008). (Pubitemid 351833748)
    • (2008) Annals of Human Genetics , vol.72 , Issue.4 , pp. 510-518
    • Ermakov, S.1    Malkin, I.2    Keter, M.3    Kobyliansky, E.4    Livshits, G.5
  • 87
    • 67349133555 scopus 로고    scopus 로고
    • Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women
    • Lee, H. J. et al. Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcif. Tissue Int. 84, 439-445 (2009).
    • (2009) Calcif. Tissue Int. , vol.84 , pp. 439-445
    • Lee, H.J.1
  • 89
    • 0031230465 scopus 로고    scopus 로고
    • Mutations in CDMP1 cause autosomal dominant brachydactyly type C
    • Polinkovsky, A. et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat. Genet. 17, 18-19 (1997).
    • (1997) Nat. Genet. , vol.17 , pp. 18-19
    • Polinkovsky, A.1
  • 90
    • 0029936784 scopus 로고    scopus 로고
    • A human chondrodysplasia due to a mutation in TGF superfamily member
    • Thomas, J. T. et al. A human chondrodysplasia due to a mutation in TGF superfamily member. Nat. Genet. 12, 315-317 (1996).
    • (1996) Nat. Genet. , vol.12 , pp. 315-317
    • Thomas, J.T.1
  • 93
    • 33645465013 scopus 로고    scopus 로고
    • GDF5 is a second locus for multiple-synostosis syndrome
    • Dawson, K. et al. GDF5 is a second locus for multiple-synostosis syndrome. Am. J. Hum. Genet. 78, 708-712 (2006).
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 708-712
    • Dawson, K.1
  • 94
    • 77649235558 scopus 로고    scopus 로고
    • Deletion and point mutations of PTHLH cause brachydactyly type e
    • Klopocki, E. et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet. 86, 434-439 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 434-439
    • Klopocki, E.1
  • 99
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1
  • 101
    • 77953338684 scopus 로고    scopus 로고
    • The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature
    • Zhao, J. et al. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. BMC Med. Genet. 11, 96 (2010).
    • (2010) BMC Med. Genet. , vol.11 , pp. 96
    • Zhao, J.1
  • 103
    • 84864278900 scopus 로고    scopus 로고
    • Adaptive evolution of loci covarying with the human African Pygmy phenotype
    • Mendizabal, I, Marigorta, U. M., Lao, O. & Comas, D. Adaptive evolution of loci covarying with the human African Pygmy phenotype. Hum. Genet. 131, 1305-1317 (2012).
    • (2012) Hum. Genet. , vol.131 , pp. 1305-1317
    • Mendizabal, I.1    Marigorta, U.M.2    Lao, O.3    Comas, D.4
  • 105
    • 31544483312 scopus 로고    scopus 로고
    • Variation in femoral length is associated with polymorphisms in RUNX2 gene
    • DOI 10.1016/j.bone.2005.08.008, PII S8756328205003388
    • Ermakov, S., Malkin, I., Kobyliansky, E. & Livshits, G. Variation in femoral length is associated with polymorphism in RUNX2 gene. Bone 38, 199-205 (2006). (Pubitemid 43165785)
    • (2006) Bone , vol.38 , Issue.2 , pp. 199-205
    • Ermakov, S.1    Malkin, I.2    Kobyliansky, E.3    Livshits, G.4
  • 106
    • 76149144003 scopus 로고    scopus 로고
    • Identification of 15 loci influencing height in a Korean population
    • Kim, J. J. et al. Identification of 15 loci influencing height in a Korean population. J. Hum. Genet. 55, 27-31 (2010).
    • (2010) J. Hum. Genet. , vol.55 , pp. 27-31
    • Kim, J.J.1
  • 107
    • 84877630278 scopus 로고    scopus 로고
    • Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data
    • Elliott, K. S. et al. Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann. Rheum. Dis. 72, 935-941 (2013).
    • (2013) Ann. Rheum. Dis. , vol.72 , pp. 935-941
    • Elliott, K.S.1
  • 108
    • 77957779695 scopus 로고    scopus 로고
    • The association between the COL12A1 gene and anterior cruciate ligament ruptures
    • Posthumus, M. et al. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br. J. Sports Med. 44, 1160-1165 (2010).
    • (2010) Br. J. Sports Med. , vol.44 , pp. 1160-1165
    • Posthumus, M.1
  • 109
    • 79953679565 scopus 로고    scopus 로고
    • GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women
    • Williams, F. M. et al. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. Arthritis Rheum. 63, 708-712 (2011).
    • (2011) Arthritis Rheum. , vol.63 , pp. 708-712
    • Williams, F.M.1
  • 110
    • 77956009674 scopus 로고    scopus 로고
    • Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population
    • Rouault, K. et al. Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population. Osteoarthritis Cartilage 18, 1144-1149 (2010).
    • (2010) Osteoarthritis Cartilage , vol.18 , pp. 1144-1149
    • Rouault, K.1
  • 111
    • 78649375679 scopus 로고    scopus 로고
    • Components of the transforming growth factor family and the pathogenesis of human Achilles tendon pathology-a genetic association study
    • (Oxford)
    • Posthumus, M. et al. Components of the transforming growth factor family and the pathogenesis of human Achilles tendon pathology-a genetic association study. Rheumatology (Oxford) 49, 2090-2097 (2010).
    • (2010) Rheumatology , vol.49 , pp. 2090-2097
    • Posthumus, M.1
  • 112
    • 78649245269 scopus 로고    scopus 로고
    • RUNX2 polymorphisms associated with OPLL and OLF in the Han population
    • Liu, Y. et al. RUNX2 polymorphisms associated with OPLL and OLF in the Han population. Clin. Orthop. Relat. Res. 468, 3333-3341 (2010).
    • (2010) Clin. Orthop. Relat. Res. , vol.468 , pp. 3333-3341
    • Liu, Y.1
  • 114
    • 84885308901 scopus 로고    scopus 로고
    • GWAS Central. GWAS Central 7.0 [online]
    • GWAS Central. GWAS Central 7.0 [online], https://www.gwascentral.org/ (2012).
    • (2012)
  • 115
    • 84885309212 scopus 로고    scopus 로고
    • NIH Genetic Association Database [online]
    • NIH. Genetic Association Database [online], http://geneticassociationdb. nih.gov/(2011).
    • (2011)


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.