|
1
|
Wicklund CL, Pauli RM, Johnston D and
Hecht JT: Natural history study of hereditary multiple exostoses.
Am J Med Genet. 55:1–46. 1995. View Article : Google Scholar
|
|
2
|
Porter DE, Lonie L, Fraser M, Dobson-Stone
C, Porter JR, Monaco AP and Simpson AH: Severity of disease and
risk of malignant change in hereditary multiple exostoses. A
genotype-phenotype study. J Bone Joint Surg Br. 86:1–1046.
2004.
|
|
3
|
Saglik Y, Altay M, Unal VS, Basarir K and
Yildiz Y: Manifestations and management of osteochondromas: A
retrospective analysis of 382 patients. Acta Orthop Belg. 72:1–755.
2006.PubMed/NCBI
|
|
4
|
Beltrami G, Ristori G, Scoccianti G,
Tamburini A and Capanna R: Hereditary multiple exostoses: A review
of clinical appearance and metabolic pattern. Clin Cases Miner Bone
Metab. 13:110–118. 2016.PubMed/NCBI
|
|
5
|
Hennekam RC: Hereditary multiple
exostoses. J Med Genet. 28:262–266. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Bovee JV: Multiple osteochondromas.
Orphanet J Rare Dis. 3:32008. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Lonie L, Porter DE, Fraser M, Cole T, Wise
C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP and Ragoussis
J: 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. Hum Mutat.
27:11602006. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Wuyts W, Radersma R, Storm K and Vits L:
An optimized DHPLC protocol for molecular testing of the EXT1 and
EXT2 genes in hereditary multiple osteochondromas. Clin Genet.
68:1–547. 2005. View Article : Google Scholar
|
|
9
|
Wuyts W and Van Hul W: Molecular basis of
multiple exostoses: Mutations in the EXT1 and EXT2 genes. Hum
Mutat. 15:220–227. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Esko JD and Selleck SB: Order out of
chaos: Assembly of ligand binding sites in heparan sulfate. Annu
Rev Biochem. 71:435–471. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
McCormick C, Leduc Y, Martindale D,
Mattison K, Esford LE, Dyer AP and Tufaro F: The putative tumour
suppressor EXT1 alters the expression of cell-surface heparan
sulfate. Nat Genet. 19:158–161. 1998. View
Article : Google Scholar : PubMed/NCBI
|
|
12
|
Zak BM, Crawford BE and Esko JD:
Hereditary multiple exostoses and heparan sulfate polymerization.
Biochim Biophys Acta. 1573:346–355. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Jennes I, Pedrini E, Zuntini M, Mordenti
M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L and
Wuyts W: Multiple osteochondromas: Mutation update and description
of the multiple osteochondromas mutation database (MOdb). Hum
Mutat. 30:1620–1627. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Wuyts W, Van Hul W, Wauters J, Nemtsova M,
Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J,
Herrygers I, et al: Positional cloning of a gene involved in
hereditary multiple exostoses. Hum Mol Genet. 5:1547–1557. 1996.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Lind T, Tufaro F, McCormick C, Lindahl U
and Lidholt K: The putative tumor suppressors EXT1 and EXT2 are
glycosyltransferases required for the biosynthesis of heparan
sulfate. J Biol Chem. 273:26265–26268. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
McCormick C, Duncan G, Goutsos KT and
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.
97:668–673. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Bernfield M, Götte M, Park PW, Reizes O,
Fitzgerald ML, Lincecum J and Zako M: Functions of cell surface
heparan sulfate proteoglycans. Annu Rev Biochem. 68:729–777. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Esko JD and Lindahl U: Molecular diversity
of heparan sulfate. J Clin Invest. 108:169–173. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Tumova S, Woods A and Couchman JR: Heparan
sulfate proteoglycans on the cell surface: Versatile coordinators
of cellular functions. Int J Biochem Cell Biol. 32:269–288. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Williams KJ and Fuki IV: Cell-surface
heparan sulfate proteoglycans: Dynamic molecules mediating ligand
catabolism. Curr Opin Lipidol. 8:253–262. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Anower-E-Khuda MF, Matsumoto K, Habuchi H,
Morita H, Yokochi T, Shimizu K and Kimata K: Glycosaminoglycans in
the blood of hereditary multiple exostoses patients: Half reduction
of heparan sulfate to chondroitin sulfate ratio and the possible
diagnostic application. Glycobiology. 23:865–876. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Jones KB, Pacifici M and Hilton MJ:
Multiple hereditary exostoses (MHE): Elucidating the pathogenesis
of a rare skeletal disorder through interdisciplinary research.
Connect Tissue Res. 55:80–88. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Xu L, Xia J, Jiang H, Zhou J, Li H, Wang
D, Pan Q, Long Z, Fan C and Deng HX: Mutation analysis of
hereditary multiple exostoses in the Chinese. Hum Genet. 105:45–50.
1999. View Article : Google Scholar : PubMed/NCBI
|
