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Items: 1 to 20 of 165

1.

Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application.

Anower-E-Khuda MF, Matsumoto K, Habuchi H, Morita H, Yokochi T, Shimizu K, Kimata K.

Glycobiology. 2013 Jul;23(7):865-76. doi: 10.1093/glycob/cwt024. Epub 2013 Mar 20.

PMID:
23514715
2.

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

Trebicz-Geffen M, Robinson D, Evron Z, Glaser T, Fridkin M, Kollander Y, Vlodavsky I, Ilan N, Law KF, Cheah KS, Chan D, Werner H, Nevo Z.

Int J Exp Pathol. 2008 Oct;89(5):321-31. doi: 10.1111/j.1365-2613.2008.00589.x. Epub 2008 Apr 30.

3.

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.

4.

Heparan sulfate abnormalities in exostosis growth plates.

Hecht JT, Hall CR, Snuggs M, Hayes E, Haynes R, Cole WG.

Bone. 2002 Jul;31(1):199-204.

PMID:
12110435
5.

Hereditary multiple exostoses and heparan sulfate polymerization.

Zak BM, Crawford BE, Esko JD.

Biochim Biophys Acta. 2002 Dec 19;1573(3):346-55. Review.

PMID:
12417417
6.

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
7.

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.

8.

Herpes simplex virus: discovering the link between heparan sulphate and hereditary bone tumours.

McCormick C, Duncan G, Tufaro F.

Rev Med Virol. 2000 Nov-Dec;10(6):373-84. Review.

PMID:
11114076
9.

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.

Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet JF, Delezoide AL, Munnich A, Bonaventure J, Zylberberg L.

J Bone Miner Res. 2000 Aug;15(8):1489-500.

10.

Newborn screening and diagnosis of mucopolysaccharidoses.

Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):42-53. doi: 10.1016/j.ymgme.2013.06.007. Epub 2013 Jun 21. Review.

11.

Clinical outcome and genotype in patients with hereditary multiple exostoses.

Jäger M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, Gossheger G, Krauspe R.

J Orthop Res. 2007 Dec;25(12):1541-51.

12.

Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.

Huegel J, Sgariglia F, Enomoto-Iwamoto M, Koyama E, Dormans JP, Pacifici M.

Dev Dyn. 2013 Sep;242(9):1021-32. doi: 10.1002/dvdy.24010. Epub 2013 Jul 29. Review.

14.

The genotype-phenotype correlation of hereditary multiple exostoses.

Alvarez C, Tredwell S, De Vera M, Hayden M.

Clin Genet. 2006 Aug;70(2):122-30.

PMID:
16879194
15.

[Proteoglycan core glycosyltransferases].

Uyama T, Kitagawa H, Sugahara K.

Tanpakushitsu Kakusan Koso. 2003 Jun;48(8 Suppl):1019-26. Review. Japanese. No abstract available.

PMID:
12807004
16.

Alterations in serum glycosaminoglycan profiles in Graves' patients.

Komosińska-Vassev K, Winsz-Szczotka K, Olczyk K, Koźma EM.

Clin Chem Lab Med. 2006;44(5):582-8.

PMID:
16681428
17.

Human blood glycosaminoglycans: isolation and analysis.

Anower-E-Khuda MF, Kimata K.

Methods Mol Biol. 2015;1229:95-103. doi: 10.1007/978-1-4939-1714-3_10.

PMID:
25325947
18.

Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses.

Huegel J, Mundy C, Sgariglia F, Nygren P, Billings PC, Yamaguchi Y, Koyama E, Pacifici M.

Dev Biol. 2013 May 1;377(1):100-12. doi: 10.1016/j.ydbio.2013.02.008. Epub 2013 Mar 1.

19.

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF.

Bone. 2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9.

20.

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.

McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F.

Nat Genet. 1998 Jun;19(2):158-61.

PMID:
9620772

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