Results 191 to 200 of about 16,338 (222)

Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice

Developmental Biology, 2000
Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate and vertebrate development.
Jeffrey D Esko, Dan E Wells, Martin M Matzuk   +2 more
exaly   +3 more sources

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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

Identification and functional characterization of the human EXT1 promoter region

Gene, 2012
Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor
Jennes, Ivy, Zuntini, Monia, Mees, Kirsten, Palagani, Ajay, Pedrini, Elena, De Cock, Greet, Fransen, Erik, Vanden Berghe, Wim, Sangiorgi, Luca, Wuyts, Wim   +9 more
openaire   +3 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
Mingxiang Kong
exaly   +3 more sources

Identification of the Xenopus laevis cDNA for EXT1: A Phylogenetic Perspective

DNA Sequence, 2002
The EXT family of genes is involved in the developmentally important biosynthesis of heparan sulfate molecules. Members of the EXT family have a demonstrated role in gastrulation, wing formation in flies, and proper bone development in vertebrates. EXT family members have been isolated from several phylogenetically diverse species.
A L, Hill, N, Brown, M S, Hill, D E, Wells   +3 more
openaire   +2 more sources

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

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