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Volumn 22, Issue 1, 2008, Pages 45-54

Hereditary multiple exostoses and enchondromatosis

Author keywords

chondrosarcomas; enchondromas; EXT1; EXT2; osteochondromas; PTHR1

Indexed keywords

EXOSTOSIN 1; EXOSTOSIN 2; EXOSTOSIN 3; HEPARAN SULFATE; PARATHYROID HORMONE RECEPTOR 1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

EID: 40149107422     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.berh.2007.12.004     Document Type: Review
Times cited : (93)

References (32)
  • 3
    • 0030829353 scopus 로고    scopus 로고
    • Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
    • L. Legeai-Mallet A. Munnich P. Maroteaux M. Le Merrer Incomplete penetrance and expressivity skewing in hereditary multiple exostoses Clinical Genetics 52 1997 12 16
    • (1997) Clinical Genetics , vol.52 , pp. 12-16
    • Legeai-Mallet, L.1    Munnich, A.2    Maroteaux, P.3    Le Merrer, M.4
  • 4
    • 0002753027 scopus 로고
    • Dyschondroplasie
    • M. Ollier Dyschondroplasie Lyon Medical 93 1990 23 25
    • (1990) Lyon Medical , vol.93 , pp. 23-25
    • Ollier, M.1
  • 6
    • 0003739827 scopus 로고
    • Tumors and Tumorous Conditions of the Bones and Joints
    • H.L. Jaffe Tumors and Tumorous Conditions of the Bones and Joints 1968 Lea and Febiger Philadelphia
    • (1968)
    • Jaffe, H.L.1
  • 7
    • 0030031448 scopus 로고    scopus 로고
    • Hereditary spinal osteochondromas in diaphyseal aclasia
    • S.E. Robbins R.D. Laitt T. Lewis Hereditary spinal osteochondromas in diaphyseal aclasia Neuroradiology 38 1996 59 61
    • (1996) Neuroradiology , vol.38 , pp. 59-61
    • Robbins, S.E.1    Laitt, R.D.2    Lewis, T.3
  • 9
    • 0028047748 scopus 로고
    • Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
    • Y.Q. Wu P. Heutink B.B. de Vries Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 Human Molecular Genetics 3 1994 167 171
    • (1994) Human Molecular Genetics , vol.3 , pp. 167-171
    • Wu, Y.Q.1    Heutink, P.2    de Vries, B.B.3
  • 11
    • 85120112684 scopus 로고    scopus 로고
    • Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
    • W.H. Rasking E.U. Conrad H. Chansky M. Matsushita Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11 American Journal of Human Genetics 56 1998 1125 1131
    • (1998) American Journal of Human Genetics , vol.56 , pp. 1125-1131
    • Rasking, W.H.1    Conrad, E.U.2    Chansky, H.3    Matsushita, M.4
  • 12
    • 0031020756 scopus 로고    scopus 로고
    • Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies
    • J.T. Hecht D. Hogue Y. Wang Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies American Journal of Human Genetics 60 1997 80 86
    • (1997) American Journal of Human Genetics , vol.60 , pp. 80-86
    • Hecht, J.T.1    Hogue, D.2    Wang, Y.3
  • 13
    • 0029090221 scopus 로고
    • Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1)
    • I. Ahn H.J. Ludecke S. Lindow Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1) Nature Genetics 11 1995 137 143
    • (1995) Nature Genetics , vol.11 , pp. 137-143
    • Ahn, I.1    Ludecke, H.J.2    Lindow, S.3
  • 14
    • 10144253124 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in hereditary multiple exostoses
    • W. Wuyts W. Van Hul J. Waunters Positional cloning of a gene involved in hereditary multiple exostoses Human Molecular Genetics 10 1996 1547 1557
    • (1996) Human Molecular Genetics , vol.10 , pp. 1547-1557
    • Wuyts, W.1    Van Hul, W.2    Waunters, J.3
  • 15
    • 0031837107 scopus 로고    scopus 로고
    • The putative tumor suppressor EXT1 alters the expression of heparan sulfate
    • C. McCormick Y. Leduc D. Martindale The putative tumor suppressor EXT1 alters the expression of heparan sulfate Nature Genetics 19 1998 158 161
    • (1998) Nature Genetics , vol.19 , pp. 158-161
    • McCormick, C.1    Leduc, Y.2    Martindale, D.3
  • 16
    • 0032500662 scopus 로고    scopus 로고
    • The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
    • T. Lind F. Tufaro C. McCormick The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate The Journal of Biological Chemistry 273 1998 26265 26268
    • (1998) The Journal of Biological Chemistry , vol.273 , pp. 26265-26268
    • Lind, T.1    Tufaro, F.2    McCormick, C.3
  • 17
    • 0034889895 scopus 로고    scopus 로고
    • The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative suppressor tumor proteins
    • G. Duncan C. McCormick F. Tufaro The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative suppressor tumor proteins The Journal of Clinical Investigation 108 2001 511 516
    • (2001) The Journal of Clinical Investigation , vol.108 , pp. 511-516
    • Duncan, G.1    McCormick, C.2    Tufaro, F.3
  • 18
  • 19
    • 0035866027 scopus 로고    scopus 로고
    • Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses
    • H. Seki T. Kubota S. Ikegawa Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses American Journal of Medical Genetics 99 2001 59 62
    • (2001) American Journal of Medical Genetics , vol.99 , pp. 59-62
    • Seki, H.1    Kubota, T.2    Ikegawa, S.3
  • 21
    • 33646243302 scopus 로고    scopus 로고
    • Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas
    • E. Pedrini A. De Luca E.M. Valente Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas Human Mutation 26 2005 280
    • (2005) Human Mutation , vol.26 , pp. 280
    • Pedrini, E.1    De Luca, A.2    Valente, E.M.3
  • 22
    • 33947370135 scopus 로고    scopus 로고
    • Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    • L. Lonie D.E. Porter M. Fraser Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases Human Mutation 27 2006 1160
    • (2006) Human Mutation , vol.27 , pp. 1160
    • Lonie, L.1    Porter, D.E.2    Fraser, M.3
  • 23
    • 33947378729 scopus 로고    scopus 로고
    • Combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients
    • E. Signori E. Massi M.G. Matera Combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients Genes Chromosomes and Cancer 46 2007 470 477
    • (2007) Genes Chromosomes and Cancer , vol.46 , pp. 470-477
    • Signori, E.1    Massi, E.2    Matera, M.G.3
  • 24
    • 4544323146 scopus 로고    scopus 로고
    • Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study
    • D.E. Porter L. Lonie M. Fraser Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study The Journal of Bone and Joint Surgery. British Volume 86 2004 1041 1046
    • (2004) The Journal of Bone and Joint Surgery. British Volume , vol.86 , pp. 1041-1046
    • Porter, D.E.1    Lonie, L.2    Fraser, M.3
  • 28
    • 0033764920 scopus 로고    scopus 로고
    • Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study
    • J.V. Bovee J.F. Graadt van Roggen A.M. Cleton-Jansen Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study Human Pathology 31 2000 1299 1303
    • (2000) Human Pathology , vol.31 , pp. 1299-1303
    • Bovee, J.V.1    Graadt van Roggen, J.F.2    Cleton-Jansen, A.M.3
  • 29
    • 0032171312 scopus 로고    scopus 로고
    • Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease
    • Y.Y. Ozisik A.M. Meloni S.S. Spanier Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease Cancer Genetics and Cytogenetics 105 1998 128 133
    • (1998) Cancer Genetics and Cytogenetics , vol.105 , pp. 128-133
    • Ozisik, Y.Y.1    Meloni, A.M.2    Spanier, S.S.3
  • 30
    • 0036509934 scopus 로고    scopus 로고
    • A mutant PTH/PTHrP type I receptor in enchondromatosis
    • S. Hopyan N. Gokgoz R. Poon A mutant PTH/PTHrP type I receptor in enchondromatosis Nature Genetics 30 2002 306 310
    • (2002) Nature Genetics , vol.30 , pp. 306-310
    • Hopyan, S.1    Gokgoz, N.2    Poon, R.3
  • 31
    • 10844255775 scopus 로고    scopus 로고
    • Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C
    • L.B. Rozeman L. Sangiorgi I.H. Briaire-de Bruijn Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C Human Mutation 24 2004 466 473
    • (2004) Human Mutation , vol.24 , pp. 466-473
    • Rozeman, L.B.1    Sangiorgi, L.2    Briaire-de Bruijn, I.H.3
  • 32
    • 28844450108 scopus 로고    scopus 로고
    • Mice deficient in EXT2 lack heparan sulfate and develop exostoses
    • D. Stickens M. Beverly N. Rougier Mice deficient in EXT2 lack heparan sulfate and develop exostoses Development 132 2006 5055 5068
    • (2006) Development , vol.132 , pp. 5055-5068
    • Stickens, D.1    Beverly, M.2    Rougier, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.