메뉴 건너뛰기




Volumn 55, Issue 2, 2014, Pages 80-88

Multiple hereditary exostoses (MHE): Elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research

Author keywords

Cartilage; Ext1; Ext2; Heparan sulfate; Multiple hereditary exostoses; Osteochondromas; Perichondrium

Indexed keywords

2 HYDROXYGLUTARIC ACID; ADENYLATE CYCLASE; BONE MORPHOGENETIC PROTEIN; CATHEPSIN K; COLLAGEN TYPE 2; EXT 1 PROTEIN; EXT 2 PROTEIN; FIBROBLAST GROWTH FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; HEPARAN SULFATE; HISTONE DEACETYLASE 4; HYPOXIA INDUCIBLE FACTOR; MICRORNA; PARATHYROID HORMONE RELATED PROTEIN; PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; PROTEOGLYCAN; TRANSCRIPTION FACTOR RUNX2; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VASCULOTROPIN; VASCULOTROPIN RECEPTOR;

EID: 84895509658     PISSN: 03008207     EISSN: 16078438     Source Type: Journal    
DOI: 10.3109/03008207.2013.867957     Document Type: Article
Times cited : (24)

References (37)
  • 1
    • 0038687536 scopus 로고    scopus 로고
    • Developmental regulation of the growth plate
    • Kronenberg HM. Developmental regulation of the growth plate. Nature 2003;423:332-6
    • (2003) Nature , vol.423 , pp. 332-336
    • Kronenberg, H.M.1
  • 2
    • 84872030260 scopus 로고    scopus 로고
    • Development of the endochondral skeleton
    • doi: 10.1101/ cshperspect.a008334
    • Long F, Ornitz DM. Development of the endochondral skeleton. Cold Spring Harb Perspect Biol 2013;5:a008334. doi: 10.1101/ cshperspect.a008334
    • (2013) Cold Spring Harb Perspect Biol , vol.5
    • Long, F.1    Ornitz, D.M.2
  • 3
    • 1842766265 scopus 로고    scopus 로고
    • Distinguishing the contributions of the perichondrium, cartilage, and vascular endothelium to skeletal development
    • Colnot C, Lu C, Hu D, Helms JA. Distinguishing the contributions of the perichondrium, cartilage, and vascular endothelium to skeletal development. Dev Biol 2004;269:55-69
    • (2004) Dev Biol , vol.269 , pp. 55-69
    • Colnot, C.1    Lu, C.2    Hu, D.3    Helms, J.A.4
  • 4
    • 0031943708 scopus 로고    scopus 로고
    • Regulation of growth region cartilage proliferation and differentiation by perichondrium
    • Long F, Linsenmayer TF. Regulation of growth region cartilage proliferation and differentiation by perichondrium. Development 1998;125:1067-73
    • (1998) Development , vol.125 , pp. 1067-1073
    • Long, F.1    Linsenmayer, T.F.2
  • 5
    • 0001524698 scopus 로고
    • Hereditary multiple exostosis
    • Solomon L. Hereditary multiple exostosis. Am J Hum Genet 1964; 16:351-63
    • (1964) Am J Hum Genet , vol.16 , pp. 351-363
    • Solomon, L.1
  • 9
    • 0034053120 scopus 로고    scopus 로고
    • Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes
    • Wuyts W, Van Hul W. Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes. Hum Mutat 2000;15: 220-7
    • (2000) Hum Mutat , vol.15 , pp. 220-227
    • Wuyts, W.1    Van Hul, W.2
  • 10
    • 0026577602 scopus 로고
    • A single mutation affects both N-Acetylglucosaminyltransferase and glucuronosyltransferase activities in a Chinese hamster ovary cell mutant defective in heparan sulfate biosynthesis
    • Lidholt K, Weinke JL, Kiser CS, Lugemwa FN, Bame KJ, Cheifetz S, Massague J, Lindahl U, Esko JD. A single mutation affects both N- Acetylglucosaminyltransferase and glucuronosyltransferase activities in a Chinese hamster ovary cell mutant defective in heparan sulfate biosynthesis. Proc Natl Acad Sci USA 1992;89:2267-71
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2267-2271
    • Lidholt, K.1    Weinke, J.L.2    Kiser, C.S.3    Lugemwa, F.N.4    Bame, K.J.5    Cheifetz, S.6    Massague, J.7    Lindahl, U.8    Esko, J.D.9
  • 11
    • 0034623224 scopus 로고    scopus 로고
    • Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants
    • Wei G, Bai X, Gabb MM, Bame KJ, Koshy TI, Spear PG, Esko JD. Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants. J Biol Chem 2000;275:27733-40
    • (2000) J Biol Chem , vol.275 , pp. 27733-27740
    • Wei, G.1    Bai, X.2    Gabb, M.M.3    Bame, K.J.4    Koshy, T.I.5    Spear, P.G.6    Esko, J.D.7
  • 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. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem 1998;273:26265-8
    • (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
    • 0034681139 scopus 로고    scopus 로고
    • The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
    • McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci USA 2000;97:668-73
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 668-673
    • McCormick, C.1    Duncan, G.2    Goutsos, K.T.3    Tufaro, F.4
  • 14
    • 0032474837 scopus 로고    scopus 로고
    • Tout-velu is a drosophila homologue of the putative tumour suppressor ext-1 and is needed for hh diffusion
    • Bellaiche Y, The I, Perrimon N. Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion. Nature 1998;394:85-8
    • (1998) Nature , vol.394 , pp. 85-88
    • Bellaiche, Y.1    The, I.2    Perrimon, N.3
  • 15
    • 15544381797 scopus 로고    scopus 로고
    • EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development
    • Hilton MJ, Gutierrez L, Martinez DA, Wells DE. EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development. Bone 2005;36:379-86
    • (2005) Bone , vol.36 , pp. 379-386
    • Hilton, M.J.1    Gutierrez, L.2    Martinez, D.A.3    Wells, D.E.4
  • 16
    • 2942538442 scopus 로고    scopus 로고
    • Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification
    • Koziel L, Kunath M, Kelly OG, Vortkamp A. Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev Cell 2004;6:801-13
    • (2004) Dev Cell , vol.6 , pp. 801-813
    • Koziel, L.1    Kunath, M.2    Kelly, O.G.3    Vortkamp, A.4
  • 17
    • 0036744820 scopus 로고    scopus 로고
    • Interaction of FGF Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation
    • Minina E, Kreschel C, Naski MC, Ornitz DM, Vortkamp A. Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev Cell 2002;3:439-49
    • (2002) Dev Cell , vol.3 , pp. 439-449
    • Minina, E.1    Kreschel, C.2    Naski, M.C.3    Ornitz, D.M.4    Vortkamp, A.5
  • 18
    • 33644973673 scopus 로고    scopus 로고
    • FGF signaling in skeletal development
    • Naski MC, Ornitz DM. FGF signaling in skeletal development. Front Biosci 1998;3:d781-94
    • (1998) Front Biosci , vol.3
    • Naski, M.C.1    Ornitz, D.M.2
  • 19
    • 0028936927 scopus 로고
    • Regulation by heparan sulfate in fibroblast growth factor signaling
    • Rapraeger AC, Guimond S, Krufka A, Olwin BB. Regulation by heparan sulfate in fibroblast growth factor signaling. Methods Enzymol 1994;245:219-40
    • (1994) Methods Enzymol , vol.245 , pp. 219-240
    • Rapraeger, A.C.1    Guimond, S.2    Krufka, A.3    Olwin, B.B.4
  • 20
    • 84876304658 scopus 로고    scopus 로고
    • Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: A mechanism likely deranged in Hereditary Multiple Exostoses
    • Huegel J, Mundy C, Sgariglia F, Nygren P, Billings PC, Yamaguchi Y, Koyama E, Pacifici M. Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: A mechanism likely deranged in Hereditary Multiple Exostoses. Dev Biol 2013;377:100-12
    • (2013) Dev Biol , vol.377 , pp. 100-112
    • Huegel, J.1    Mundy, C.2    Sgariglia, F.3    Nygren, P.4    Billings, P.C.5    Yamaguchi, Y.6    Koyama, E.7    Pacifici, M.8
  • 21
    • 77953520690 scopus 로고    scopus 로고
    • Conditional ablation of the heparan sulfatesynthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects
    • Matsumoto Y, Matsumoto K, Irie F, Fukushi J, Stallcup WB, Yamaguchi Y. Conditional ablation of the heparan sulfatesynthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects. J Biol Chem 2010;285:19227-34
    • (2010) J Biol Chem , vol.285 , pp. 19227-19234
    • Matsumoto, Y.1    Matsumoto, K.2    Irie, F.3    Fukushi, J.4    Stallcup, W.B.5    Yamaguchi, Y.6
  • 22
    • 73949092833 scopus 로고    scopus 로고
    • A study on the interactions between heparan sulfate proteoglycans and Wnt proteins
    • Fuerer C, Habib SJ, Nusse R. A study on the interactions between heparan sulfate proteoglycans and Wnt proteins. Dev Dyn 2010; 239:184-90
    • (2010) Dev Dyn , vol.239 , pp. 184-190
    • Fuerer, C.1    Habib, S.J.2    Nusse, R.3
  • 23
    • 13444302715 scopus 로고    scopus 로고
    • Sequential roles of Hedgehog and Wnt signaling in osteoblast development
    • Hu H, Hilton MJ, Tu X, Yu K, Ornitz DM, Long F. Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development 2005;132:49-60
    • (2005) Development , vol.132 , pp. 49-60
    • Hu, H.1    Hilton, M.J.2    Tu, X.3    Yu, K.4    Ornitz, D.M.5    Long, F.6
  • 24
    • 33750301324 scopus 로고    scopus 로고
    • Wnt/betacatenin signaling interacts differentially with Ihh signaling in controlling endochondral bone and synovial joint formation
    • Mak KK, Chen MH, Day TF, Chuang PT, Yang Y. Wnt/betacatenin signaling interacts differentially with Ihh signaling in controlling endochondral bone and synovial joint formation. Development 2006;133:3695-707
    • (2006) Development , vol.133 , pp. 3695-3707
    • Mak, K.K.1    Chen, M.H.2    Day, T.F.3    Chuang, P.T.4    Yang, Y.5
  • 25
    • 79954574438 scopus 로고    scopus 로고
    • Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones
    • Zak BM, Schuksz M, Koyama E, Mundy C, Wells DE, Yamaguchi Y, Pacifici M, Esko JD. Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones. Bone 2011;48:979-87
    • (2011) Bone , vol.48 , pp. 979-987
    • Zak, B.M.1    Schuksz, M.2    Koyama, E.3    Mundy, C.4    Wells, D.E.5    Yamaguchi, Y.6    Pacifici, M.7    Esko, J.D.8
  • 26
    • 0034663225 scopus 로고    scopus 로고
    • Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice
    • Lin X, Wei G, Shi Z, Dryer L, Esko JD, Wells DE, Matzuk MM. Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice. Dev Biol 2000;224:299-311
    • (2000) Dev Biol , vol.224 , pp. 299-311
    • Lin, X.1    Wei, G.2    Shi, Z.3    Dryer, L.4    Esko, J.D.5    Wells, D.E.6    Matzuk, M.M.7
  • 27
    • 28844450108 scopus 로고    scopus 로고
    • Mice deficient in Ext2 lack heparan sulfate and develop exostoses
    • Stickens D, Zak BM, Rougier N, Esko JD, Werb Z. Mice deficient in Ext2 lack heparan sulfate and develop exostoses. Development 2005;132:5055-68
    • (2005) Development , vol.132 , pp. 5055-5068
    • Stickens, D.1    Zak, B.M.2    Rougier, N.3    Esko, J.D.4    Werb, Z.5
  • 29
    • 0033924650 scopus 로고    scopus 로고
    • EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis
    • Stickens D, Brown D, Evans GA. EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Dev Dyn 2000;218:452-64
    • (2000) Dev Dyn , vol.218 , pp. 452-464
    • Stickens, D.1    Brown, D.2    Evans, G.A.3
  • 31
    • 77954627828 scopus 로고    scopus 로고
    • A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses
    • Matsumoto K, Irie F, Mackem S, Yamaguchi Y. A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci USA 2010;107:10932-7
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10932-10937
    • Matsumoto, K.1    Irie, F.2    Mackem, S.3    Yamaguchi, Y.4
  • 32
    • 34047181999 scopus 로고    scopus 로고
    • Lineage tracing using matrilin-1 gene expression reveals that articular chondrocytes exist as the joint interzone forms
    • Hyde G, Dover S, Aszodi A, Wallis GA, Boot-Handford RP. Lineage tracing using matrilin-1 gene expression reveals that articular chondrocytes exist as the joint interzone forms. Dev Biol 2007;304:825-33
    • (2007) Dev Biol , vol.304 , pp. 825-833
    • Hyde, G.1    Dover, S.2    Aszodi, A.3    Wallis, G.A.4    Boot-Handford, R.P.5
  • 33
    • 34447639266 scopus 로고    scopus 로고
    • Tamoxifen-inducible gene deletion reveals a distinct cell type associated with trabecular bone, and direct regulation of PTHrP expression and chondrocyte morphology by Ihh in growth region cartilage
    • Hilton MJ, Tu X, Long F. Tamoxifen-inducible gene deletion reveals a distinct cell type associated with trabecular bone, and direct regulation of PTHrP expression and chondrocyte morphology by Ihh in growth region cartilage. Dev Biol 2007;308:93-105
    • (2007) Dev Biol , vol.308 , pp. 93-105
    • Hilton, M.J.1    Tu, X.2    Long, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.