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Items: 1 to 20 of 181

1.

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.

Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7. doi: 10.1073/pnas.0914642107. Epub 2010 Jun 1.

2.

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC.

Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2054-9. doi: 10.1073/pnas.0910875107. Epub 2009 Dec 22.

3.

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC.

Am J Hum Genet. 1999 Sep;65(3):689-98.

4.

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.

Bone. 2011 May 1;48(5):979-87. doi: 10.1016/j.bone.2011.02.001. Epub 2011 Feb 15.

5.

Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.

Mooij HL, Cabrales P, Bernelot Moens SJ, Xu D, Udayappan SD, Tsai AG, van der Sande MA, de Groot E, Intaglietta M, Kastelein JJ, Dallinga-Thie GM, Esko JD, Stroes ES, Nieuwdorp M.

J Am Heart Assoc. 2014 Dec 2;3(6):e001274. doi: 10.1161/JAHA.114.001274.

6.

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Lüdecke HJ, Lovett M, Van Winkle WB, Hecht JT.

Cell Motil Cytoskeleton. 2001 Feb;48(2):149-62.

PMID:
11169766
7.

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.

Benoist-Lasselin C, de Margerie E, Gibbs L, Cormier S, Silve C, Nicolas G, LeMerrer M, Mallet JF, Munnich A, Bonaventure J, Zylberberg L, Legeai-Mallet L.

Bone. 2006 Jul;39(1):17-26. Epub 2006 Feb 13.

PMID:
16476576
8.

EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.

Stickens D, Brown D, Evans GA.

Dev Dyn. 2000 Jul;218(3):452-64.

9.

Toward an understanding of the short bone phenotype associated with multiple osteochondromas.

Jones KB, Datar M, Ravichandran S, Jin H, Jurrus E, Whitaker R, Capecchi MR.

J Orthop Res. 2013 Apr;31(4):651-7. doi: 10.1002/jor.22280. Epub 2012 Nov 28.

10.

Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.

Sgariglia F, Candela ME, Huegel J, Jacenko O, Koyama E, Yamaguchi Y, Pacifici M, Enomoto-Iwamoto M.

Bone. 2013 Nov;57(1):220-31. doi: 10.1016/j.bone.2013.08.012. Epub 2013 Aug 17.

11.

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

Jones KB, Pacifici M, Hilton MJ.

Connect Tissue Res. 2014 Apr;55(2):80-8. doi: 10.3109/03008207.2013.867957. Epub 2014 Feb 12.

PMID:
24409815
12.

Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice.

Sinha S, Mundy C, Bechtold T, Sgariglia F, Ibrahim MM, Billings PC, Carroll K, Koyama E, Jones KB, Pacifici M.

PLoS Genet. 2017 Apr 26;13(4):e1006742. doi: 10.1371/journal.pgen.1006742. eCollection 2017 Apr.

13.

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T.

Biochem Biophys Res Commun. 2000 Feb 24;268(3):860-7.

PMID:
10679296
14.

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

Gigante M, Matera MG, Seripa D, Izzo AM, Venanzi R, Giannotti A, Digilio MC, Gravina C, Lazzari M, Monteleone G, Monteleone M, Dallapiccola B, Fazio VM.

Int J Cancer. 2001 Nov 20;95(6):378-83.

15.
16.

Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice.

Morimoto K, Shimizu T, Furukawa K, Morio H, Kurosawa H, Shirasawa T.

Biochem Biophys Res Commun. 2002 Apr 12;292(4):999-1009.

PMID:
11944914
17.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ.

Am J Hum Genet. 1998 Feb;62(2):346-54.

18.

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, Stringer SE, Bovée JV.

Am J Pathol. 2010 Oct;177(4):1946-57. doi: 10.2353/ajpath.2010.100296. Epub 2010 Sep 2.

19.

Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.

Hameetman L, David G, Yavas A, White SJ, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovée JV.

J Pathol. 2007 Mar;211(4):399-409.

PMID:
17226760
20.

Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.

Hecht JT, Hayes E, Haynes R, Cole WG, Long RJ, Farach-Carson MC, Carson DD.

Differentiation. 2005 Jun;73(5):212-21.

PMID:
16026543

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