Results 11 to 20 of about 16,338 (222)
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Zayed Al-Zayed +9 more
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Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas [PDF]
Human Mutation, 2005 Elena Pedrini +2 more
exaly +2 more sources
Stem Cell Research, 2021 Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12 ...
Yazhou Cui +4 more
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Fibroblast EXT1-levels influence tumor cell proliferation and migration in composite spheroids.
PLoS ONE, 2012 BackgroundStromal fibroblasts are important determinants of tumor cell behavior. They act to condition the tumor microenvironment, influence tumor growth, support tumor angiogenesis and affect tumor metastasis. Heparan sulfate proteoglycans, present both
Cecilia Österholm +6 more
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Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans[S] [PDF]
Journal of Lipid Research, 2015 Elevated nonfasting TG-rich lipoprotein levels are a risk factor for CVD. To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice
Hans L. Mooij +15 more
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Journal of Inherited Metabolic Disease, 2015 AbstractEXT1/EXT2‐CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O‐xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta‐epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one ...
Francisco Cammarata‐Scalisi +11 more
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Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1 [PDF]
Journal of Human Genetics, 2002 Hung Li +2 more
exaly +2 more sources
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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