Results 21 to 30 of about 3,991 (155)
Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation [PDF]
Journal of Biological Chemistry, 2007 The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis,
Marta, Busse +6 more
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Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. [PDF]
PLoS ONE, 2014 Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development.
Sophie J Bernelot Moens +11 more
doaj +1 more source
Possible effects of EXT2 on mesenchymal differentiation - lessons from the zebrafish [PDF]
Orphanet Journal of Rare Diseases, 2014 Mutations in the EXT genes disrupt polymerisation of heparan sulphates (HS) and lead to the development of osteochondroma, an isolated/sporadic- or a multifocal/hereditary cartilaginous bone tumour. Zebrafish (Danio rerio) is a very powerful animal model which has shown to present the same cartilage phenotype that is commonly seen in mice model and ...
Wiweger, M.I. +4 more
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Heparanase and Syndecan-4 Are Involved in Low Molecular Weight Fucoidan-Induced Angiogenesis
Marine Drugs, 2015 Induction of angiogenesis is a potential treatment for chronic ischemia. Low molecular weight fucoidan (LMWF), the sulfated polysaccharide from brown seaweeds, has been shown to promote revascularization in a rat limb ischemia, increasing angiogenesis ...
Oualid Haddad +10 more
doaj +1 more source
Journal of Public Health in Africa, 2020 Recent genome-wide association studies and replication analyses have reported the association of variants of the exostosin- 2 gene (EXT2) and risk of type 2 diabetes (T2D) in some populations, but not in others.
Serge Y. Ouedraogo +13 more
doaj +1 more source
Journal of Nutrition and Metabolism, 2023 Background. Ashwagandha extracts play a significant role in traditional Indian medicine to help treat a wide range of disorders from amnesia, erectile dysfunction, neurodegenerative and cardiovascular diseases, cancer, stress, anxiety, and many more ...
Franco Cavaleri +4 more
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Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations [PDF]
Journal of Bone and Mineral Research, 2000 Abstract The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2, have been identified and are expressed ubiquitously.
M A, Bernard +10 more
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New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
Brain Sciences, 2020 Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses),
Slavica Trajkova +7 more
doaj +1 more source
Orthopaedic Surgery, 2020 Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang +4 more
doaj +1 more source
Frontiers in Genetics, 2020 Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang +13 more
doaj +1 more source