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Items: 13

1.

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.

Pacifici M.

Curr Osteoporos Rep. 2017 Jun;15(3):142-152. doi: 10.1007/s11914-017-0355-2. Review.

PMID:
28466453
2.
3.

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing.

Liu H, Wu S, Duan L, Zhu W, Zhang S, Hu X, Jia W, Yang G, Liu C, Li W, Yang L, Guo L, Lin Y, Wang Y, He M, Yang Z, He Y, Cai Z, Wang D.

Oncol Rep. 2015 Feb;33(2):547-52. doi: 10.3892/or.2014.3610. Epub 2014 Nov 21.

4.

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG.

Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407.

5.

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.

Zhang F, Liang J, Guo X, Zhang Y, Wen Y, Li Q, Zhang Z, Ma W, Dai L, Liu X, Yang L, Wang J.

PLoS One. 2013 Aug 29;8(8):e72316. doi: 10.1371/journal.pone.0072316. eCollection 2013.

6.

Autoantibody signature differentiates Wilms tumor patients from neuroblastoma patients.

Schmitt J, Keller A, Nourkami-Tutdibi N, Heisel S, Habel N, Leidinger P, Ludwig N, Gessler M, Graf N, Berthold F, Lenhof HP, Meese E.

PLoS One. 2011;6(12):e28951. doi: 10.1371/journal.pone.0028951. Epub 2011 Dec 16.

7.

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.

8.

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.

9.

Malignant progression in two children with multiple osteochondromas.

Schmale GA, Hawkins DS, Rutledge J, Conrad EU.

Sarcoma. 2010;2010:417105. doi: 10.1155/2010/417105. Epub 2010 May 9.

10.

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.

11.

The molecular and cellular basis of exostosis formation in hereditary multiple exostoses.

Reijnders CM, Hogendoorn PC, Bovée JV.

Int J Exp Pathol. 2009 Apr;90(2):190-1; author reply 191-3. doi: 10.1111/j.1365-2613.2009.00654.x. No abstract available.

12.

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM.

Hum Mol Genet. 2008 Nov 15;17(22):3539-51. doi: 10.1093/hmg/ddn247. Epub 2008 Aug 19.

13.

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G.

Am J Hum Genet. 2001 Jul;69(1):55-66. Epub 2001 Jun 5.

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