Results 141 to 150 of about 3,263 (170)

cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1

Development Genes and Evolution, 2002
Hereditary Multiple Exostosis (EXT) is an autosomal dominant disorder. Here, we have isolated XEXT1, a Xenopus homologue of EXT1, as an ovary-enriched cDNA clone. The 2,598-bp XEXT1 cDNA had a single open reading frame encoding 735 amino acids. Quantitative RT-PCR analysis showed that transcripts of XEXT1 were present maternally and consumed prior to ...
Tomohisa, Katada, Shunji, Oogami, Naoya, Shima, Tsutomu, Kinoshita   +3 more
openaire   +2 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
exaly   +3 more sources

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, Satomi, Nadanaka, Naoko, Shoji, Jun-Ichi, Tamura, Hiroshi, Kitagawa   +4 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.
Yinan, Wang, XiaoYan, Yang, Sadako, Yamagata, Tatsuya, Yamagata, Toshinori, Sato   +4 more
openaire   +2 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   +2 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.
D E, Wells, A, Hill, X, Lin, J, Ahn, N, Brown, M J, Wagner   +5 more
openaire   +2 more sources

Ext1 regulates chondrocyte differentiation

2003
Hereditary multiple exostoses (HME) syndrome is an autosomal dominant inherited human disorder, which is characterized by the formation of multiple cartilaginous capped benign tumors (exostoses) that develop from the growth plate of endochondral bones. So far HME has been linked to missense or frameshift mutations in the tumor suppressor genes Ext1 and
Koziel, L., Kunath, M., Kelly, O., Skarnes, B., Vortkamp, A.   +4 more
openaire   +1 more source

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
openaire   +2 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.
Matthew J, Hilton, Laura, Gutiérrez, Daniel A, Martinez, Dan E, Wells   +3 more
openaire   +2 more sources

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas

Genes
Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (EXT1) and exostosin-2 (EXT2) genes.
Elena Pedrini, Serena Corsini, Alice Moroni   +2 more
exaly   +3 more sources