|
1
|
Schmale GA, Conrad EU III and Raskind WH:
The natural history of hereditary multiple exostoses. J Bone Joint
Surg Am. 76:986–992. 1994.PubMed/NCBI
|
|
2
|
Legeai-Mallet L, Munnich A, Maroteaux P
and Le Merrer M: Incomplete penetrance and expressivity skewing in
hereditary multiple exostoses. Clin Genet. 52:12–16. 1997.
View Article : Google Scholar : PubMed/NCBI
|
|
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.
72:748–755. 2006.PubMed/NCBI
|
|
4
|
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. 86:1041–1046. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Wu YQ, Heutink P, de Vries BB, Sandkuijl
LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E,
Willems PJ and Halley DJ: Assignment of a second locus for multiple
exostoses to the pericentromeric region of chromosome 11. Hum Mol
Genet. 3:167–171. 1994. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
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
|
|
7
|
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
|
|
8
|
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
|
|
9
|
Hameetman L, David G, Yavas A, White SJ,
Taminiau AH, Cleton-Jansen AM, Hogendoorn PC and Bovée JV:
Decreased EXT expression and intracellular accumulation of heparan
sulphate proteoglycan in osteochondromas and peripheral
chondrosarcomas. J Pathol. 211:399–409. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Hall CR, Cole WG, Haynes R and Hecht JT:
Reevaluation of a genetic model for the development of exostosis in
hereditary multiple exostosis. Am J Med Genet. 112:1–5. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Signori E, Massi E, Matera MG, Poscente M,
Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, et al:
A combined analytical approach reveals novel EXT1/2 gene mutations
in a large cohort of Italian multiple osteochondromas patients.
Genes Chromosomes Cancer. 46:470–477. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
White SJ, Vink GR, Kriek M, Wuyts W,
Schouten J, Bakker B, Breuning MH and den Dunnen JT: Two-color
multiplex ligation-dependent probe amplification: Detecting genomic
rearrangements in hereditary multiple exostoses. Hum Mutat.
24:86–92. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Pedrini E, De Luca A, Valente EM, Maini V,
Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L and
Dallapiccola B: Novel EXT1 and EXT2 mutations identified by DHPLC
in Italian patients with multiple osteochondromas. Hum Mutat.
26:2802005. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
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
|
|
15
|
Jennes I, Entius MM, Van Hul E, Parra A,
Sangiorgi L and Wuyts W: Mutation screening of EXT1 and EXT2 by
denaturing high-performance liquid chromatography, direct
sequencing analysis, fluorescence in situ hybridization, and a new
multiplex ligation-dependent probe amplification probe set in
patients with multiple osteochondromas. J Mol Diagn. 10:85–92.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
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
|
|
17
|
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
|
|
18
|
Raskind WH, Conrad EU III, Matsushita M,
Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M and Houck J:
Evaluation of locus heterogeneity and EXT1 mutations in 34 families
with hereditary multiple exostoses. Hum Mutat. 11:231–239. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Le Merrer M, Legeai-Mallet L, Jeannin P,
Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A
and Maroteaux P: A gene for hereditary multiple exostosesmaps to
chromosome 19 p. Hum Mol Genet. 5:717–722. 1994. View Article : Google Scholar
|
|
20
|
Francannet C, Cohen-Tanugi A, Le Merrer M,
Munnich A, Bonaventure J and Legeai-Mallet L: Genotype-phenotype
correlation in hereditary multiple exostoses. J Med Genet.
7:430–434. 2001. View Article : Google Scholar
|
|
21
|
Wise CA, Clines GA, Massa H, Trask BJ and
Lovett M: Identification and localization of the gene for EXTL, a
third member of the multiple exostoses gene family. Genome Res.
7:10–16. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Wuyts W, Van Hul W, Hendrickx J, Speleman
F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P and
Willems PJ: Identification and characterization of a novel member
of the EXT gene family, EXTL2. Eur J Hum Genet. 5:382–389.
1997.PubMed/NCBI
|
|
23
|
Van Hul W, Wuyts W, Hendrickx J, Speleman
F, Wauters J, De Boulle K, Van Roy N, Bossuyt P and Willems PJ:
Identification of the third EXT-like gene (EXTL 3) belonging to the
EXT gene family. Genomics. 47:230–237. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Miller SA and James RH: Variables
associated with ultraviolet transmittance measurements of
intraocular lenses. Am J Ophthalmol. 106:256–260. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Wuyts W, Van Hul W, De Boulle K, Hendrickx
J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS,
Pazzaglia UE, et al: Mutations in the EXT1 and EXT2 genes in
hereditary multiple exostoses. Am J Hum Genet. 62:346–354. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Wicklund CL, Pauli RM, Johnston D and
Hecht JT: Natural history study of hereditary multiple exostoses.
Am J Med Genet. 55:43–46. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Kitagawa H, Shimakawa H and Sugahara K:
The tumor suppressor EXT-like gene EXTL2 encodes an alpha1,
4-N-acetylhexosaminyltransferase that transfers
N-acetylgalactosamine and N-acetylglucosamine to the common
glycosaminoglycan-protein linkage region. The key enzyme for the
chain initiation of heparan sulfate. J Biol Chem. 274:13933–13937.
1999. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Romeo S, Oosting J, Rozeman LB, Hameetman
L, Taminiau AH, Cleton-Jansen AM, Bovée JV and Hogendoorn PC: The
role of noncartilage-specific molecules in differentiation of
cartilaginous tumors: Lessons from chondroblastoma and
chondromyxoid fibroma. Cancer. 110:385–394. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Bornemann DJ, Duncan JE, Staatz W, Selleck
S and Warrior R: Abrogation of heparan sulfate synthesis in
drosophila disrupts the wingless, hedgehog and decapentaplegic
signaling pathways. Development. 131:1927–1938. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Bellaiche Y, The I and Perrimon N:
Tout-velu is a Drosophila homologue of the putative tumour
suppressor EXT-1 and is needed for Hh diffusion. Nature. 394:85–88.
1998. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Lai LP and Mitchell J: Indian hedgehog:
Its roles and regulation in endochondral bone development. J Cell
Biochem. 96:1163–1173. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Duncan G, McCormick C and Tufaro F: The
link between heparan sulfate and hereditary bone disease: Finding a
function for the EXT family of putative tumor suppressor proteins.
J Clin Invest. 108:511–516. 2001. View
Article : Google Scholar : PubMed/NCBI
|
|
33
|
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.
68:542–547. 2005. View Article : Google Scholar : PubMed/NCBI
|
