Results 171 to 180 of about 4,059 (184)

Biosynthesis of heparan sulfate in EXT1-deficient cells

Biochemical Journal, 2010
HS (heparan sulfate) is synthesized by HS co-polymerases encoded by the EXT1 and EXT2 genes (exostosin 1 and 2), which are known as causative genes for hereditary multiple exostoses, a dominantly inherited genetic disorder characterized by multiple cartilaginous tumours.
Megumi Okada, Hiroshi Kitagawa, Jun-ichi Tamura, Naoko Shoji, Satomi Nadanaka   +4 more
openaire   +2 more sources

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas

Genetic Testing and Molecular Biomarkers, 2019
Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and our mutational analyses of the EXT1 and EXT2 genes in affected and unaffected
Zhonghua Chen, Qing Bi, Yu Chen, Mingxiang Kong   +3 more
openaire   +2 more sources

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.
Toshinori Sato, Sadako Yamagata, Xiaoyan Yang, Yinan Wang, Tatsuya Yamagata   +4 more
openaire   +3 more sources

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.
Michael J. Wagner, Michael J. Wagner, Dan E. Wells, Nicholas Brown, April Hill, April Hill, Jung Ahn, Xin Lin   +7 more
openaire   +3 more sources

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
openaire   +3 more sources

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

Human Mutation, 2000
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses.
Wim Wuyts, Wim Van Hul
openaire   +2 more sources

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
openaire   +3 more sources

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.
Laura Gutierrez, Dan E. Wells, Matthew J. Hilton, Matthew J. Hilton, Daniel A. Martinez   +4 more
openaire   +3 more sources

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 ...
Akira Ishikawa, Tokuhiro Chano, Tatsuru Ikeda, Tetsuo Hotta, Masayoshi Namba, Gen Tamura, Masaharu Takigawa, Toshihisa Osanai, Hiroshi Orui, Toshihiko Ogino, Akira Ogose, Yasuhiko Kaneko, Hiroyuki Kawashima, Atsushi Tsuchiya, Teiichi Motoyama, Takuro Wada, Takashi Tsuchiya   +16 more
openaire   +3 more sources

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
Bernhard Horsthemke, Dan E. Wells, Steffi Lindow, H.-J. Lüdecke, Brendan Lee, Jung Ahn, Michael J. Wagner, William A. Horton   +7 more
openaire   +2 more sources