Results 171 to 180 of about 3,834 (197)

Involvement of Ext1 and heparanase in migration of mouse FBJ osteosarcoma cells

Molecular and Cellular Biochemistry, 2012
To know the involvement of glycosaminoglycans (GAGs) in the metastasis of mouse FBJ osteosarcoma cells, N(α)-lauroyl-O-(β-D-xylopyranosyl)-L-serinamide (Xyl-Ser-C12), which initiates elongation of GAG chains using the glycan biosynthesis system in cells, was administered to FBJ cells with different metastatic capacities.
Yinan, Wang, XiaoYan, Yang, Sadako, Yamagata, Tatsuya, Yamagata, Toshinori, Sato   +4 more
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Gene expression of EXT1 and EXT2 during mouse brain development

Developmental Brain Research, 2003
Heparan sulfate (HS) and heparan sulfate proteoglycans (HSPGs) play significant roles in various biological processes. There is a wealth of circumstantial and experimental evidence suggesting the roles of HS in mammalian neural development. HS synthesis is governed by a series of enzymes.
Masaru, Inatani, Yu, Yamaguchi
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Identification of novel mutations in the human EXT1 tumor suppressor gene

Human Genetics, 1997
Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene.
D E, Wells, A, Hill, X, Lin, J, Ahn, N, Brown, M J, Wagner   +5 more
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EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development

Bone, 2005
Multiple Hereditary Exostoses (MHE) is an autosomal dominant skeletal disorder most frequently caused by mutations in the EXT1 gene. MHE affects proper development of endochondral bones, such that all affected individuals present with exostoses adjacent to the growth plate of long bones, while some individuals exhibit additional bone deformities.
Matthew J, Hilton, Laura, Gutiérrez, Daniel A, Martinez, Dan E, Wells   +3 more
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Mutation Screening for the EXT1 and EXT2 Genes in Chinese Patients with Multiple Osteochondromas

Archives of Medical Research, 2013
Multiple osteochondromas (MO), an autosomal dominant skeletal disease, is characterized by the presence of multiple cartilage-capped bone tumors (exostoses). Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2.
Qing-lin, Kang, Jia, Xu, Zeng, Zhang, Jin-wei, He, Wen-zhen, Fu, Zhen-lin, Zhang   +5 more
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Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Nature Genetics, 1995
Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints
J, Ahn, H J, Lüdecke, S, Lindow, W A, Horton, B, Lee, M J, Wagner, B, Horsthemke, D E, Wells   +7 more
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[Identification of mutations in the human EXT1 and EXT2 genes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 1999
To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease.Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT ...
G, Song, J, Zhou, J, Xia, H, Deng, L, Xu, Q, Ruan   +5 more
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Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma

Cancer Genetics and Cytogenetics, 2005
Germline mutation and functional loss of EXT1 or EXT2 are commonly found in multiple osteochondromas and predispose to the development of chondrosarcoma. Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary ...
Takashi, Tsuchiya, Toshihisa, Osanai, Akira, Ogose, Gen, Tamura, Tokuhiro, Chano, Yasuhiko, Kaneko, Akira, Ishikawa, Hiroshi, Orui, Takuro, Wada, Tatsuru, Ikeda, Masayoshi, Namba, Masaharu, Takigawa, Hiroyuki, Kawashima, Tetsuo, Hotta, Atsushi, Tsuchiya, Toshihiko, Ogino, Teiichi, Motoyama   +16 more
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Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

Journal of Genetics, 2015
The purpose of this study was to perform genetic screening of the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO). Initially, mutation analysis of the EXT1 gene was performed by Sanger sequencing.
TANTELES, GEORGE A., NICOLAOU, MICHAEL, NEOCLEOUS, VASSOS, SHAMMAS, CHRISTOS, LOIZIDOU, MARIA A., ALEXANDROU, ANGELOS, ELLINA, ELENA, PATSIA, NASIA, SISMANI, CAROLINA, PHYLACTOU, LEONIDAS A., CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA   +10 more
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Multiple exostoses gene, EXT1 and heparan sulfate biosynthesis

2009
Hereditary multiple exostoses (HME), a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 and EXT2. The corresponding gene products, exostosin-1 (EXT1) and exostosin-2 (EXT2) are type II transmembrane glycoproteins which form a Golgi-Iocalized hetero ...
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