Results 11 to 20 of about 4,066 (131)
Scientific Reports, 2022 Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults. We previously reported that the prevalence of phospholipase A2 receptor (PLA2R)- and thrombospondin type 1 domain containing 7A (THSD7A)-associated MN patients in Japan is ...
Takamasa Iwakura +6 more
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A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
PLoS ONE, 2014 BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian +8 more
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HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.
PLoS ONE, 2012 Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Malgorzata I Wiweger +4 more
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Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses
Journal of the Formosan Medical Association, 2006 Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen +3 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
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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
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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
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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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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
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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
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