Results 161 to 170 of about 3,834 (197)
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 +2 more
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Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses [PDF]
American Journal of Human Genetics, 1998 Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may ...
Wim Wuyts, K De Boulle, Jan Hendrickx
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Obesity induced Ext1 reduction mediates the occurrence of NAFLD
Biochemical and Biophysical Research Communications, 2022Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder with intricate etiology. It is closely associated with metabolic syndrome, insulin resistance and endoplasmic reticulum (ER) stress. Exostosin1 (Ext1) is an ER-resident transmembrane glycosyltransferase, which plays an important role in ER homeostasis.
Fujian Qin, Junmei Ye
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Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas
Human Mutation, 2005 We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep ...
Elena Pedrini +2 more
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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes
Human Mutation, 2000Hereditary 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
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A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas
Genetic Testing and Molecular Biomarkers, 2019Multiple 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
Qing Bi, Mingxiang Kong
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Identification of the Xenopus laevis cDNA for EXT1: A Phylogenetic Perspective
DNA Sequence, 2002The 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 +3 more
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cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1
Development Genes and Evolution, 2002Hereditary 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 +3 more
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Biosynthesis of heparan sulfate in EXT1 -deficient cells
Biochemical Journal, 2010HS (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 +4 more
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