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Volumn 15, Issue 8, 2000, Pages 1489-1500

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

Author keywords

Actin; Cartilage; Collagen; Exostosis; EXT1 mutation

Indexed keywords

ACTIN; COLLAGEN; DECORIN; DERMATAN SULFATE; DNA; GLYCOSYLTRANSFERASE; PROTEOCHONDROITIN SULFATE; PROTEOHEPARAN SULFATE; RNA;

EID: 0033930375     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.8.1489     Document Type: Article
Times cited : (28)

References (45)
  • 1
    • 0001524698 scopus 로고
    • Hereditary multiple exostoses
    • Solomon L 1964 Hereditary multiple exostoses. Am J Hum Genet 16:351-363.
    • (1964) Am J Hum Genet , vol.16 , pp. 351-363
    • Solomon, L.1
  • 8
    • 0028917663 scopus 로고
    • Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
    • Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M 1995 Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56:1125-1131.
    • (1995) Am J Hum Genet , vol.56 , pp. 1125-1131
    • Hecht, J.T.1    Hogue, D.2    Strong, L.C.3    Hansen, M.F.4    Blanton, S.H.5    Wagner, M.6
  • 11
    • 0032581395 scopus 로고    scopus 로고
    • Expression and functional analysis of mouse EXT 1, a homolog of the human multiple exostoses type I gene
    • Lin X, Gan L, Klein WH, Wells D 1998 Expression and functional analysis of mouse EXT 1, a homolog of the human multiple exostoses type I gene. Biochem Biophys Res Commun 248:738-743.
    • (1998) Biochem Biophys Res Commun , vol.248 , pp. 738-743
    • Lin, X.1    Gan, L.2    Klein, W.H.3    Wells, D.4
  • 12
    • 0032500662 scopus 로고    scopus 로고
    • The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
    • Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K 1998 The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem 273:26265-26268.
    • (1998) J Biol Chem , vol.273 , pp. 26265-26268
    • Lind, T.1    Tufaro, F.2    McCormick, C.3    Lindahl, U.4    Lidholt, K.5
  • 13
    • 0033553525 scopus 로고    scopus 로고
    • The tumor suppressor EXT-like gene EXTL 2 encodes an α1,4-N-Acetylhexosaminyltransferase that transfers N-Acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region
    • Kitagawa H, Shimakawa H, Kazuyuki S 1999 The tumor suppressor EXT-like gene EXTL 2 encodes an α1,4-N-Acetylhexosaminyltransferase that transfers N-Acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. J Biol Chem 274: 13933-13937.
    • (1999) J Biol Chem , vol.274 , pp. 13933-13937
    • Kitagawa, H.1    Shimakawa, H.2    Kazuyuki, S.3
  • 15
  • 17
    • 0000431868 scopus 로고
    • Hereditary multiple exostosis
    • Jaffe HL 1943 Hereditary multiple exostosis. Arch Pathol 36:335-357.
    • (1943) Arch Pathol , vol.36 , pp. 335-357
    • Jaffe, H.L.1
  • 18
    • 0025810316 scopus 로고
    • Hereditary multiple exostoses
    • Hennekam RCM 1991 Hereditary multiple exostoses J Med Genet 28: 262-266.
    • (1991) J Med Genet , vol.28 , pp. 262-266
    • Hennekam, R.C.M.1
  • 19
    • 0000062817 scopus 로고
    • Hereditary multiple exostosis
    • Solomon L 1963 Hereditary multiple exostosis. J Bone Joint Surg Br 45: 292-304.
    • (1963) J Bone Joint Surg Br , vol.45 , pp. 292-304
    • Solomon, L.1
  • 20
  • 23
    • 0024550294 scopus 로고
    • Deduced protein sequence of bone small proteoglycan I (Biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species
    • Fisher LW, Termine JD, Young MF 1989 Deduced protein sequence of bone small proteoglycan I (Biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species. J Biol Chem 264:4571-4576.
    • (1989) J Biol Chem , vol.264 , pp. 4571-4576
    • Fisher, L.W.1    Termine, J.D.2    Young, M.F.3
  • 25
    • 50549161624 scopus 로고
    • A modified uronic acid carbazole reaction
    • Bitter T, Muir HM 1962 A modified uronic acid carbazole reaction. Anal Biochem 4:330-334.
    • (1962) Anal Biochem , vol.4 , pp. 330-334
    • Bitter, T.1    Muir, H.M.2
  • 26
    • 0023065715 scopus 로고
    • Proteoglycan analysis on horizontal submerged polyacrylamide-agarose gels
    • Stanescu V, Chaminade F 1987 Proteoglycan analysis on horizontal submerged polyacrylamide-agarose gels. Connect Tissue Res 16:71-77.
    • (1987) Connect Tissue Res , vol.16 , pp. 71-77
    • Stanescu, V.1    Chaminade, F.2
  • 27
    • 0017189425 scopus 로고
    • Formation of anhydrosugars in the chemical depolymerization of heparin
    • Shively JE, Conrad HE 1976 Formation of anhydrosugars in the chemical depolymerization of heparin. Biochemistry 15: 3932-3942.
    • (1976) Biochemistry , vol.15 , pp. 3932-3942
    • Shively, J.E.1    Conrad, H.E.2
  • 29
    • 0027177717 scopus 로고
    • Nonsense mutations and diminished mRNA levels
    • Mc Intosh I, Hamosh A, Dietz HC 1993 Nonsense mutations and diminished mRNA levels. Nat Genet 4:219.
    • (1993) Nat Genet , vol.4 , pp. 219
    • Mc Intosh, I.1    Hamosh, A.2    Dietz, H.C.3
  • 31
    • 0032474837 scopus 로고    scopus 로고
    • Tout-velu is a drosophila homologue of the putative tumor suppressor EXT-1 and is needed for Hh diffusion
    • Bellaiche Y, The I, Perrimon N 1998 Tout-velu is a drosophila homologue of the putative tumor suppressor EXT-1 and is needed for Hh diffusion. Nature 394:85-88.
    • (1998) Nature , vol.394 , pp. 85-88
    • Bellaiche, Y.1    The, I.2    Perrimon, N.3
  • 32
    • 0033212987 scopus 로고    scopus 로고
    • Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan
    • The I, Bellaiche Y, Perrimon N 1999 Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan. Mol Cell 4:633-639.
    • (1999) Mol Cell , vol.4 , pp. 633-639
    • The, I.1    Bellaiche, Y.2    Perrimon, N.3
  • 34
    • 0028825543 scopus 로고
    • Regulation of growth factor activation by proteoglycans: What is the role of the low affinity receptors?
    • Schlessinger J, Lax I, Lemmon M 1995 Regulation of growth factor activation by proteoglycans: What is the role of the low affinity receptors? Cell 83:357-360.
    • (1995) Cell , vol.83 , pp. 357-360
    • Schlessinger, J.1    Lax, I.2    Lemmon, M.3
  • 35
    • 0033606788 scopus 로고    scopus 로고
    • Signaling to actin dynamics
    • Machesky LM, Insall RH 1999 Signaling to actin dynamics. J Cell Biol 146:267-272.
    • (1999) J Cell Biol , vol.146 , pp. 267-272
    • Machesky, L.M.1    Insall, R.H.2
  • 38
    • 0030297553 scopus 로고    scopus 로고
    • Dual roles for Patched in sequestering and transducing hedgehog
    • Chen Y, Struhl G 1996 Dual roles for Patched in sequestering and transducing hedgehog. Cell 87:553-563.
    • (1996) Cell , vol.87 , pp. 553-563
    • Chen, Y.1    Struhl, G.2
  • 39
    • 0030955344 scopus 로고    scopus 로고
    • Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage
    • 203
    • Zou H, Weiser R, Massague J, Niswander L 203 1997 Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage. Genes Dev 11: 2191-2.
    • (1997) Genes Dev , vol.11 , pp. 2191-2192
    • Zou, H.1    Weiser, R.2    Massague, J.3    Niswander, L.4
  • 40
    • 0029750190 scopus 로고    scopus 로고
    • Regulation of rate of cartilage differentiation by Indian Hedgehog and PTH-related Protein
    • Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg M, Tabin CJ 1996 Regulation of rate of cartilage differentiation by Indian Hedgehog and PTH-related Protein. Science 273: 613-622.
    • (1996) Science , vol.273 , pp. 613-622
    • Vortkamp, A.1    Lee, K.2    Lanske, B.3    Segre, G.V.4    Kronenberg, M.5    Tabin, C.J.6
  • 42
    • 0031943708 scopus 로고    scopus 로고
    • Regulation of growth region cartilage proliferation and differentiation by perichondrium
    • Long F, Linsenmayer TF 1998 Regulation of growth region cartilage proliferation and differentiation by perichondrium. Development 125:1067-1073.
    • (1998) Development , vol.125 , pp. 1067-1073
    • Long, F.1    Linsenmayer, T.F.2
  • 43
    • 0028600614 scopus 로고
    • Bone matrix decorin binds transforming growth factor-β and enhances its bioactivity
    • Takeuchi Y, Kodama Y, Matsumoto T 1994 Bone matrix decorin binds transforming growth factor-β and enhances its bioactivity. J Biol Chem 269:32634-32638.
    • (1994) J Biol Chem , vol.269 , pp. 32634-32638
    • Takeuchi, Y.1    Kodama, Y.2    Matsumoto, T.3
  • 44
    • 0032930730 scopus 로고    scopus 로고
    • The primary calcification in bones follows removal of decorin and fusion of collagen fibrils
    • Hoshi K, Kemmotsu S, Takeuchi Y, Amizuka N, Ozawa H 1999 The primary calcification in bones follows removal of decorin and fusion of collagen fibrils. J Bone Miner Res 14:273-280.
    • (1999) J Bone Miner Res , vol.14 , pp. 273-280
    • Hoshi, K.1    Kemmotsu, S.2    Takeuchi, Y.3    Amizuka, N.4    Ozawa, H.5
  • 45
    • 0032718876 scopus 로고    scopus 로고
    • A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses
    • Simmons AD, Musy MM, Lopes CS, Hwang L-Y, Yang Y-P, Lovett M 1999 A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet 8:2155-2164.
    • (1999) Hum Mol Genet , vol.8 , pp. 2155-2164
    • Simmons, A.D.1    Musy, M.M.2    Lopes, C.S.3    Hwang, L.-Y.4    Yang, Y.-P.5    Lovett, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.