Knock-out mice in osteoarthritis research

Current Rheumatology Reviews

Volumn 4, Issue 3, 2008, Pages 183-192

  Raducanu, Aurelia ^a   Aszódi, Attila ^a  

^a MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

Author keywords

Cytokines; Extracellular matrix; Gene targeting; Growth factors; Mouse models; Osteoarthritis; Proteolysis; Signaling

Indexed keywords

AGGRECAN; BONE MORPHOGENETIC PROTEIN; CATHEPSIN K; CELL SURFACE PROTEIN; COLLAGEN; COLLAGEN FIBRIL; COLLAGEN RECEPTOR; COLLAGENASE; CYTOKINE; GLYCOPROTEIN; GROWTH FACTOR; INTERLEUKIN 6; MATRIX METALLOPROTEINASE; PROTEINASE; PROTEOGLYCAN; TISSUE INHIBITOR OF METALLOPROTEINASE 3; TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA;

CHONDROLYSIS; COLLAGEN DEGRADATION; DISEASE COURSE; DISEASE MODEL; DNA MODIFICATION; EXTRACELLULAR MATRIX; GENE MUTATION; GENE TARGETING; HUMAN; KNOCKOUT MOUSE; MEDICAL RESEARCH; NONHUMAN; OSTEOARTHRITIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN PROTEIN INTERACTION; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION; TRANSGENIC MOUSE;

EID: 53649089290     PISSN: 15733971     EISSN: None     Source Type: Journal    
DOI: 10.2174/157339708785133578     Document Type: Review

References (121)

1. Buckwalter JA, Martin JA. Osteoarthritis. Adv Drug Deliv Rev 2006; 58: 150-67.
2. Nakata K, Ono K, Miyazaki J, et al. Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion. Proc Natl Acad Sci USA 1993; 90: 2870-4.
3. Fassler R, Schnegelsberg PN, Dausman J, et al. Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci USA 1994; 91: 5070-4.
4. Murphy G, Knauper V, Atkinson S, et al. Matrix metalloproteinases in arthritic disease. Arthritis Res 2002; 4 Suppl 3: S39-49.
5. Mott JD, Werb Z. Regulation of matrix biology by matrix metalloproteinases. Curr Opin Cell Biol 2004; 16: 558-64.
6. Page-McCaw A, Ewald AJ, Werb Z. Matrix metalloproteinases and the regulation of tissue remodelling. Nat Rev Mol Cell Biol 2007; 8: 221-33.
7. Jones GC, Riley GP. ADAMTS proteinases: a multi-domain, multifunctional family with roles in extracellular matrix turnover and arthritis. Arthritis Res Ther 2005; 7: 160-9.
8. Baker AH, Edwards DR, Murphy G. Metalloproteinase inhibitors: biological actions and therapeutic opportunities. J Cell Sci 2002; 115: 3719-27.
9. Kevorkian L, Young DA, Darrah C, et al. Expression profiling of metalloproteinases and their inhibitors in cartilage. Arthritis Rheum 2004; 50: 131-41.
10. Davidson RK, Waters JG, Kevorkian L, et al. Expression profiling of metalloproteinases and their inhibitors in synovium and cartilage. Arthritis Res Ther 2006; 8: R124.
11. Yasuda Y, Kaleta J, Bromme D. The role of cathepsins in osteoporosis and arthritis: rationale for the design of new therapeutics. Adv Drug Deliv Rev 2005; 57: 973-93.
12. Struglics A, Larsson S, Pratta MA, et al. Human osteoarthritis synovial fluid and joint cartilage contain both aggrecanase- and matrix metalloproteinase-generated aggrecan fragments. Osteoarthritis Cartilage 2006; 14: 101-13.
13. Malfait AM, Liu RQ, Ijiri K, Komiya S, Tortorella MD. Inhibition of ADAM-TS4 and ADAM-TS5 prevents aggrecan degradation in osteoarthritic cartilage. J Biol Chem 2002; 277: 22201-8.
14. Glasson SS, Askew R, Sheppard B, et al. Deletion of active ADAMTS5 prevents cartilage degradation in a murine model of osteoarthritis. Nature 2005; 434: 644-8.
15. Glasson SS, Askew R, Sheppard B, et al. Characterization of and osteoarthritis susceptibility in ADAMTS-4-knockout mice. Arthritis Rheum 2004; 50: 2547-58.
16. Stanton H, Rogerson FM, East CJ, et al. ADAMTS5 is the major aggrecanase in mouse cartilage in vivo and in vitro. Nature 2005; 434: 648-52.
17. East CJ, Stanton H, Golub SB, Rogerson FM, Fosang AJ. ADAMTS-5 deficiency does not block aggrecanolysis at preferred cleavage sites in the the chondroitin sulfate-rich region of aggrecan. J Biol Chem 2007; 282(12): 8632-40. Epub 2007 Jan 25.
18. Ilic MZ, East CJ, Rogerson FM, Fosang AJ, Handley CJ. Distinguishing aggrecan loss from aggrecan proteolysis in ADAMTS-4 and ADAMTS-5 single and double deficient mice. J Biol Chem 2007; 282: 37420-8.
19. Little CB, Meeker CT, Golub SB, et al. Blocking aggrecanase cleavage in the aggrecan interglobular domain abrogates cartilage erosion and promotes cartilage repair. J Clin Invest 2007; 117: 1627-36.
20. Fosang AJ, Last K, Stanton H, et al. Generation and novel distribution of matrix metalloproteinase-derived aggrecan fragments in porcine cartilage explants. J Biol Chem 2000; 275: 33027-37.
21. Little CB, Meeker CT, Hembry RM, et al. Matrix metalloproteinases are not essential for aggrecan turnover during normal skeletal growth and development. Mol Cell Biol 2005; 25: 3388-99.
22. Blom AB, van Lent PL, Libregts S, et al. Crucial role of macrophages in matrix metalloproteinase-mediated cartilage destruction during experimental osteoarthritis: involvement of matrix metalloproteinase 3. Arthritis Rheum 2007; 56: 147-57.
23. van Meurs J, van Lent P, Holthuysen A, et al. Active matrix metalloproteinases are present in cartilage during immune complexmediated arthritis: a pivotal role for stromelysin-1 in cartilage destruction. J Immunol 1999; 163: 5633-9.
24. van Meurs J, van Lent P, Stoop R, et al. Cleavage of aggrecan at the Asn341-Phe342 site coincides with the initiation of collagen damage in murine antigen-induced arthritis: a pivotal role for stromelysin 1 in matrix metalloproteinase activity. Arthritis Rheum 1999; 42: 2074-84.
25. Clements KM, Price JS, Chambers MG, et al. Gene deletion of either interleukin-1beta, interleukin-1beta-converting enzyme, inducible nitric oxide synthase, or stromelysin 1 accelerates the development of knee osteoarthritis in mice after surgical transection of the medial collateral ligament and partial medial meniscectomy. Arthritis Rheum 2003; 48: 3452-63.
26. Fichter M, Korner U, Schomburg J, et al. Collagen degradation products modulate matrix metalloproteinase expression in cultured articular chondrocytes. J Orthop Res 2006; 24: 63-70.
27. Yasuda T, Tchetina E, Ohsawa K, et al. Peptides of type II collagen can induce the cleavage of type II collagen and aggrecan in articular cartilage. Matrix Biol 2006; 25: 419-29.
28. Neuhold LA, Killar L, Zhao W, et al. Postnatal expression in hyaline cartilage of constitutively active human collagenase-3 (MMP-13) induces osteoarthritis in mice. J Clin Invest 2001; 107: 35-44.
29. Kamekura S, Kawasaki Y, Hoshi K, et al. Contribution of runtrelated transcription factor 2 to the pathogenesis of osteoarthritis in mice after induction of knee joint instability. Arthritis Rheum 2006; 54: 2462-70.
30. Stickens D, Behonick DJ, Ortega N, et al. Altered endochondral bone development in matrix metalloproteinase 13-deficient mice. Development 2004; 131: 5883-95.
31. Mosig RA, Dowling O, DiFeo A, et al. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. Hum Mol Genet 2007; 16: 1113-23.
32. Holmbeck K, Bianco P, Caterina J, et al. MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover. Cell 1999; 99: 81-92.
33. Zhou Z, Apte SS, Soininen R, et al. Impaired endochondral ossification and angiogenesis in mice deficient in membrane-type matrix metalloproteinase I. Proc Natl Acad Sci USA 2000; 97: 4052-7.
34. Sahebjam S, Khokha R, Mort JS. Increased collagen and aggrecan degradation with age in the joints of Timp3(-/-) mice. Arthritis Rheum 2007; 56: 905-9.
35. Morko JP, Soderstrom M, Saamanen AM, Salminen HJ, Vuorio EI. Up regulation of cathepsin K expression in articular chondrocytes in a transgenic mouse model for osteoarthritis. Ann Rheum Dis 2004; 63: 649-55.
36. Morko J, Kiviranta R, Joronen K, et al. Spontaneous development of synovitis and cartilage degeneration in transgenic mice overexpressing cathepsin K. Arthritis Rheum 2005; 52: 3713-7.
37. Saftig P, Hunziker E, Wehmeyer O, et al. Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci USA 1998; 95: 13453-8.
38. Kiviranta R, Morko J, Alatalo SL, et al. Impaired bone resorption in cathepsin K-deficient mice is partially compensated for by enhanced osteoclastogenesis and increased expression of other proteases via an increased RANKL/OPG ratio. Bone 2005; 36: 159-72.
39. Sondergaard BC, Henriksen K, Wulf H, et al. Relative contribution of matrix metalloprotease and cysteine protease activities to cytokine-stimulated articular cartilage degradation. Osteoarthritis Cartilage 2006; 14: 738-48.
40. Goldring SR, Goldring MB. The role of cytokines in cartilage matrix degeneration in osteoarthritis. Clin Orthop Relat Res 2004; S27-36.
41. Goldring MB. Update on the biology of the chondrocyte and new approaches to treating cartilage diseases. Best Pract Res Clin Rheumatol 2006; 20: 1003-25.
42. Aigner T, Soeder S, Haag J. IL-1beta and BMPs--interactive players of cartilage matrix degradation and regeneration. Eur Cell Mater 2006; 12: 49-56.
43. Fukui N, Zhu Y, Maloney WJ, Clohisy J, Sandell LJ. Stimulation of BMP-2 expression by pro-inflammatory cytokines IL-1 and TNF-alpha in normal and osteoarthritic chondrocytes. J Bone Joint Surg Am 2003; (85-A Suppl 3): 59-66.
44. Fischer DC, Siebertz B, van de Leur E, et al. Induction of alpha1-antitrypsin synthesis in human articular chondrocytes by interleukin-6-type cytokines: evidence for a local acute-phase response in the joint. Arthritis Rheum 1999; 42: 1936-45.
45. De Hooge AS, van de Loo FA, Bennink MB, et al. Male IL-6 gene knock out mice developed more advanced osteoarthritis upon aging. Osteoarthritis Cartilage 2005; 13: 66-73.
46. Mahr S, Menard J, Krenn V, Muller B. Sexual dimorphism in the osteoarthritis of STR/ort mice may be linked to articular cytokines. Ann Rheum Dis 2003; 62: 1234-7.
47. Goldring MB, Tsuchimochi K, Ijiri K. The control of chondrogenesis. J Cell Biochem 2006; 97: 33-44.
48. Blaney Davidson EN, van der Kraan PM, van den Berg WB. TGF-beta and osteoarthritis. Osteoarthritis Cartilage 2007; 15: 597-604.
49. Ogueta S, Olazabal I, Santos I, Delgado-Baeza E, Garcia-Ruiz JP. Transgenic mice expressing bovine GH develop arthritic disorder and self-antibodies. J Endocrinol 2000; 165: 321-8.
50. Fernandez-Criado C, Martos-Rodriguez A, Santos-Alvarez I, Garcia-Ruiz JP, Delgado-Baeza E. The fate of chondrocyte in osteoarthritic cartilage of transgenic mice expressing bovine GH. Osteoarthritis Cartilage 2004; 12: 543-51.
51. Redini F, Galera P, Mauviel A, Loyau G, Pujol JP. Transforming growth factor beta stimulates collagen and glycosaminoglycan biosynthesis in cultured rabbit articular chondrocytes. FEBS Lett 1988; 234: 172-6.
52. Takahashi N, Rieneck K, van der Kraan PM, et al. Elucidation of IL-1/TGF-beta interactions in mouse chondrocyte cell line by genome-wide gene expression. Osteoarthritis Cartilage 2005; 13: 426-38.
53. Van Beuningen HM, Glansbeek HL, van der Kraan PM, van den Berg WB. Osteoarthritis-like changes in the murine knee joint resulting from intra-articular transforming growth factor-beta injections. Osteoarthritis Cartilage 2000; 8: 25-33.
54. Serra R, Johnson M, Filvaroff EH, et al. Expression of a truncated, kinase-defective TGF-beta type II receptor in mouse skeletal tissue promotes terminal chondrocyte differentiation and osteoarthritis. J Cell Biol 1997; 139: 541-52.
55. Yang X, Chen L, Xu X, et al. TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J Cell Biol 2001; 153: 35-46.
56. Wang H, Zhang J, Sun Q, Yang X. Altered gene expression in articular chondrocytes of Smad3ex8/ex8 mice, revealed by gene profiling using microarrays. J Genet Genomics 2007; 34: 698-708.
57. Todorovic V, Jurukovski V, Chen Y, et al. Latent TGF-beta binding proteins. Int J Biochem Cell Biol 2005; 37: 38-41.
58. Dabovic B, Chen Y, Colarossi C, et al. Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability. J Cell Biol 2002; 156: 227-32.
59. Kishigami S, Mishina Y. BMP signaling and early embryonic patterning. Cytokine Growth Factor Rev 2005; 16: 265-78.
60. Rountree RB, Schoor M, Chen H, et al. BMP receptor signaling is required for postnatal maintenance of articular cartilage. PLoS Biol 2004; 2: e355.
61. Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002; 16: 1446-65.
62. Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 1996; 12: 390-7.
63. Valverde-Franco G, Liu H, Davidson D, et al. Defective bone mineralization and osteopenia in young adult FGFR3-/- mice. Hum Mol Genet 2004; 13: 271-84.
64. Valverde-Franco G, Binette JS, Li W, et al. Defects in articular cartilage metabolism and early arthritis in fibroblast growth factor receptor 3 deficient mice. Hum Mol Genet 2006; 15: 1783-92.
65. Zhang YW, Vande Woude GF. Mig-6, signal transduction, stress response and cancer. Cell Cycle 2007; 6: 507-13.
66. Zhang YW, Su Y, Lanning N, et al. Targeted disruption of Mig-6 in the mouse genome leads to early onset degenerative joint disease. Proc Natl Acad Sci USA 2005; 102: 11740-5.
67. Poole AR, Kojima T, Yasuda T, et al. Composition and structure of articular cartilage: a template for tissue repair. Clin Orthop Relat Res 2001; (391 Suppl): S26-33.
68. Forsyth CB, Pulai J, Loeser RF. Fibronectin fragments and blocking antibodies to alpha2beta1 and alpha5beta1 integrins stimulate mitogen-activated protein kinase signaling and increase collagenase 3 (matrix metalloproteinase 13) production by human articular chondrocytes. Arthritis Rheum 2002; 46: 2368-76.
69. Loeser RF, Forsyth CB, Samarel AM, Im HJ. Fibronectin fragment activation of proline-rich tyrosine kinase PYK2 mediates integrin signals regulating collagenase-3 expression by human chondrocytes through a protein kinase C-dependent pathway. J Biol Chem 2003; 278: 24577-85.
70. Xu L, Peng H, Glasson S, et al. Increased expression of the collagen receptor discoidin domain receptor 2 in articular cartilage as a key event in the pathogenesis of osteoarthritis. Arthritis Rheum 2007; 56: 2663-73.
71. Sunk IG, Bobacz K, Hofstaetter JG, et al. Increased expression of discoidin domain receptor 2 is linked to the degree of cartilage damage in human knee joints: a potential role in osteoarthritis pathogenesis. Arthritis Rheum 2007; 56: 3685-92.
72. Reginato AM, Olsen BR. The role of structural genes in the pathogenesis of osteoarthritic disorders. Arthritis Res 2002; 4: 337-45.
73. Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. J Med Genet 1999; 36: 353-9.
74. Aszodi A, Pfeifer A, Wendel M, Hiripi L, Fassler R. Mouse models for extracellular matrix diseases. J Mol Med 1998; 76: 238-52.
75. Saamanen AK, Salminen HJ, Dean PB, et al. Osteoarthritis-like lesions in transgenic mice harboring a small deletion mutation in type II collagen gene. Osteoarthritis Cartilage 2000; 8: 248-57.
76. Bomsta BD, Bridgewater LC, Seegmiller RE. Premature osteoarthritis in the Disproportionate micromelia (Dmm) mouse. Osteoarthritis Cartilage 2006; 14: 477-85.
77. Lapvetelainen T, Hyttinen M, Lindblom J, et al. More knee joint osteoarthritis (OA) in mice after inactivation of one allele of type II procollagen gene but less OA after lifelong voluntary wheel running exercise. Osteoarthritis Cartilage 2001; 9: 152-60.
78. Hyttinen MM, Toyras J, Lapvetelainen T, et al. Inactivation of one allele of the type II collagen gene alters the collagen network in murine articular cartilage and makes cartilage softer. Ann Rheum Dis 2001; 60: 262-8.
79. Li Y, Lacerda DA, Warman ML, et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 1995; 80: 423-30.
80. Xu L, Flahiff CM, Waldman BA, et al. Osteoarthritis-like changes and decreased mechanical function of articular cartilage in the joints of mice with the chondrodysplasia gene (cho). Arthritis Rheum 2003; 48: 2509-18.
81. Xu L, Peng H, Wu D, et al. Activation of the discoidin domain receptor 2 induces expression of matrix metalloproteinase 13 associated with osteoarthritis in mice. J Biol Chem 2005; 280: 548-55.
82. Lam NP, Li Y, Waldman AB, et al. Age-dependent increase of discoidin domain receptor 2 and matrix metalloproteinase 13 expression in temporomandibular joint cartilage of type IX and type XI collagen-deficient mice. Arch Oral Biol 2007; 52: 579-84.
83. Hu K, Xu L, Cao L, et al. Pathogenesis of osteoarthritis-like changes in the joints of mice deficient in type IX collagen. Arthritis Rheum 2006; 54: 2891-900.
84. Li Y, Xu L, Olsen BR. Lessons from genetic forms of osteoarthritis for the pathogenesis of the disease. Osteoarthritis Cartilage 2007; 15: 1101-5.
85. Loeser RF. Integrins and cell signaling in chondrocytes. Biorheology 2002; 39: 119-24.
86. Bouvard D, Brakebusch C, Gustafsson E, et al. Functional consequences of integrin gene mutations in mice. Circ Res 2001; 89: 211-23.
87. Aszodi A, Hunziker EB, Brakebusch C, Fassler R. Beta1 integrins regulate chondrocyte rotation, G1 progression, and cytokinesis. Genes Dev 2003; 17: 2465-79.
88. Zemmyo M, Meharra EJ, Kuhn K, Creighton-Achermann L, Lotz M. Accelerated, aging-dependent development of osteoarthritis in alpha1 integrin-deficient mice. Arthritis Rheum 2003; 48: 2873-80.
89. Bohm BB, Aigner T, Roy B, et al. Homeostatic effects of the metalloproteinase disintegrin ADAM15 in degenerative cartilage remodeling. Arthritis Rheum 2005; 52: 1100-9.
90. Horton WE, Jr., Lethbridge-Cejku M, Hochberg MC, et al. An association between an aggrecan polymorphic allele and bilateral hand osteoarthritis in elderly white men: data from the Baltimore Longitudinal Study of Aging (BLSA). Osteoarthritis Cartilage 1998; 6: 245-51.
91. Kirk KM, Doege KJ, Hecht J, Bellamy N, Martin NG. Osteoarthritis of the hands, hips and knees in an Australian twin sample-evidence of association with the aggrecan VNTR polymorphism. Twin Res 2003; 6: 62-6.
92. Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet 2005; 77: 484-90.
93. Watanabe H, Kimata K, Line S, et al. Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene. Nat Genet 1994; 7: 154-7.
94. Watanabe H, Nakata K, Kimata K, Nakanishi I, Yamada Y. Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan. Proc Natl Acad Sci USA 1997; 94: 6943-7.
95. Watanabe H, Yamada Y. Chondrodysplasia of gene knockout mice for aggrecan and link protein. Glycoconj J 2002; 19: 269-73.
96. Ameye L, Young MF. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases. Glycobiology 2002; 12: 107R-16R.
97. Ameye L, Aria D, Jepsen K, et al. Abnormal collagen fibrils in tendons of biglycan/fibromodulin-deficient mice lead to gait impairment, ectopic ossification, and osteoarthritis. FASEB J 2002; 16: 673-80.
98. Jepsen KJ, Wu F, Peragallo JH, et al. A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice. J Biol Chem 2002; 277: 35532-40.
99. Gill MR, Oldberg A, Reinholt FP. Fibromodulin-null murine knee joints display increased incidences of osteoarthritis and alterations in tissue biochemistry. Osteoarthritis Cartilage 2002; 10: 751-7.
100. Wadhwa S, Embree MC, Kilts T, Young MF, Ameye LG. Accelerated osteoarthritis in the temporomandibular joint of biglycan/fibromodulin double-deficient mice. Osteoarthritis Cartilage 2005; 13: 817-27.
101. Aszodi A, Legate KR, NakchbandiI, Fassler R. What mouse mutants teach us about extracellular matrix function. Annu Rev Cell Dev Biol 2006; 22: 591-621.
102. Tesche F, Miosge N. Perlecan in late stages of osteoarthritis of the human knee joint. Osteoarthritis Cartilage 2004; 12: 852-62.
103. Costell M, Gustafsson E, Aszodi A, et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol 1999; 147: 1109-22.
104. Nicole S, Davoine CS, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000; 26: 480-3.
105. Rodgers KD, Sasaki T, Aszodi A, Jacenko O. Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. Hum Mol Genet 2007; 16: 515-28.
106. Marcelino J, Carpten JD, Suwairi WM, et al. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 1999; 23: 319-22.
107. Elsaid KA, Jay GD, Warman ML, Rhee DK, Chichester CO. Association of articular cartilage degradation and loss of boundarylubricating ability of synovial fluid following injury and inflammatory arthritis. Arthritis Rheum 2005; 52: 1746-55.
108. Rhee DK, Marcelino J, Baker M, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell over-growth. J Clin Invest 2005; 115: 622-31.
109. Wagener R, Ehlen HW, Ko YP, et al. The matrilins-adaptor proteins in the extracellular matrix. FEBS Lett 2005; 579: 3323-9.
110. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002; 19: 465-78.
111. Svensson L, Aszodi A, Heinegard D, et al. Cartilage oligomeric matrix protein-deficient mice have normal skeletal development. Mol Cell Biol 2002; 22: 4366-71.
112. Aszodi A, Bateman JF, Hirsch E, et al. Normal skeletal development of mice lacking matrilin 1: redundant function of matrilins in cartilage? Mol Cell Biol 1999; 19: 7841-5.
113. Ko Y, Kobbe B, Nicolae C, et al. Matrilin-3 is dispensable for mouse skeletal growth and development. Mol Cell Biol 2004; 24: 1691-9.
114. Stefansson SE, Jonsson H, Ingvarsson T, et al. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 2003; 72: 1448-59.
115. Min JL, Meulenbelt I, Riyazi N, et al. Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand. Ann Rheum Dis 2006; 65: 1060-6.
116. Pullig O, Tagariello A, Schweizer A, et al. MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis. Ann Rheum Dis 2007; 66: 279-80.
117. Nicolae C, Ko YP, Miosge N, et al. Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice. J Biol Chem 2007; 282: 22163-75.
118. van der Weyden L, Wei L, Luo J, et al. Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis. Am J Pathol 2006; 169: 515-27.
119. Little CB, Mittaz L, Belluoccio D, et al. ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro and in vivo. Arthritis Rheum 2005; 52: 1461-72.
120. Majumdar MK, Askew R, Schelling S, et al. Double-knockout of ADAMTS-4 and ADAMTS-5 in mice results in physiologically normal animals and prevents the progression of osteoarthritis. Arthritis Rheum 2007; 56: 3670-4.
121. Li SW, Takanosu M, Arita M, et al. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). Dev Dyn 2001; 222: 141-52.