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Links from Protein

Items: 5

1.
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members
Lei Zhuang, Simon D. Gerber, Stefan Kuchen, Peter M. Villiger, Beat Trueb
Springerplus. 2016; 5: 71. Published online 2016 Jan 22. doi: 10.1186/s40064-016-1695-6
PMCID:
PMC4723372
AbstractArticlePDF–1.2M
2.
Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing
HONGJIE LIU, SONG WU, LI DUAN, WEIMING ZHU, SHIQUAN ZHANG, XIAOXIAO HU, WENLONG JIA, GUOSHENG YANG, CHUNXIAO LIU, WEIPING LI, LEI YANG, LIJUN GUO, YOUCHENG LIN, YONGQIANG WANG, MEIJIAN HE, ZHAO YANG, YINGYING HE, ZHIMING CAI, DAPING WANG
Oncol Rep. 2015 Feb; 33(2): 547–552. Published online 2014 Nov 21. doi: 10.3892/or.2014.3610
PMCID:
PMC4306274
AbstractArticlePDF–519K
3.
Synovial joint formation requires local Ext1 expression and heparan sulfate production in developing mouse embryo limbs and spine
Christina Mundy, Tadashi Yasuda, Takashi Kinumatsu, Yu Yamaguchi, Masahiro Iwamoto, Motomi Enomoto-Iwamoto, Eiki Koyama, Maurizio Pacifici
Dev Biol. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Dev Biol. 2011 Mar 1; 351(1): 70–81. Published online 2010 Dec 23. doi: 10.1016/j.ydbio.2010.12.022
PMCID:
PMC3039051
AbstractArticlePDF–8.8M
4.
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
J T Hecht, D Hogue, Y Wang, S H Blanton, M Wagner, L C Strong, W Raskind, M F Hansen, D Wells
Am J Hum Genet. 1997 Jan; 60(1): 80–86.
PMCID:
PMC1712567
SummaryPage BrowsePDF–1.2M
5.
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
Craig McCormick, Gillian Duncan, K. Tina Goutsos, Frank Tufaro
Proc Natl Acad Sci U S A. 2000 Jan 18; 97(2): 668–673. doi: 10.1073/pnas.97.2.668
PMCID:
PMC15388
AbstractArticlePDF–321K

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