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Astrocytoma
Circulating microRNAs as Biomarkers for Pediatric Astrocytomas.
Autoimmune Diseases
Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
Breast Neoplasms
Exostosin 1 regulates cancer cell stemness in doxorubicin-resistant breast cancer cells.
Breast Neoplasms
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
Breast Neoplasms
The exostosin family of glycosyltransferases: mRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines.
Carcinogenesis
REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.
Cholangiocarcinoma
Increase of exostosin 1 in plasma as a potential biomarker for opisthorchiasis-associated cholangiocarcinoma.
Chondrosarcoma
Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma.
Chondrosarcoma
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.
Colorectal Neoplasms
EXTL3 promoter methylation down-regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers.
Colorectal Neoplasms
EXTL3/EXTR1 alterations in colorectal cancer cell lines.
Diabetes Mellitus, Type 2
Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis.
Diabetes Mellitus, Type 2
No correlation between the variants of exostosin 2 gene and type 2 diabetes in Burkina Faso population.
Endometriosis
EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.
Exostoses
Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes.
Exostoses
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses.
Exostoses, Multiple Hereditary
A family with limb girdle muscular dystrophy type 1B and multiple exostoses.
Exostoses, Multiple Hereditary
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Exostoses, Multiple Hereditary
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Exostoses, Multiple Hereditary
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Exostoses, Multiple Hereditary
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.
Exostoses, Multiple Hereditary
Familial Solitary Chondrosarcoma Resulting from Germline EXT2 Mutation.
Exostoses, Multiple Hereditary
Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu.
Exostoses, Multiple Hereditary
Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans.
Exostoses, Multiple Hereditary
Glycosaminoglycans in blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application.
Exostoses, Multiple Hereditary
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.
Exostoses, Multiple Hereditary
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.
Exostoses, Multiple Hereditary
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.
Exostoses, Multiple Hereditary
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Exostoses, Multiple Hereditary
Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma.
Exostoses, Multiple Hereditary
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Exostoses, Multiple Hereditary
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.
Exostoses, Multiple Hereditary
Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.
Exostoses, Multiple Hereditary
Whole?exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Genetic Diseases, Inborn
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Genetic Diseases, Inborn
Specific functions of Exostosin-like 3 (EXTL3) gene products.
Giant Cell Tumors
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Glomerulonephritis, Membranous
A Target Antigen-Based Approach to the Classification of Membranous Nephropathy.
Glomerulonephritis, Membranous
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Glomerulonephritis, Membranous
Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
Glomerulonephritis, Membranous
In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
Glomerulonephritis, Membranous
Primary Membranous Nephropathy With Enhanced Staining of Exostosin 1/Exostosin 2 in the Glomeruli: A Report of 2 Cases.
Glomerulonephritis, Membranous
The Exostosin Immunohistochemical Status Differentiates Lupus Membranous Nephropathy Subsets With Different Outcomes.
Herpes Zoster
Effect of sperm diluents on the acrosome reaction in canine sperm.
Hypercholesterolemia
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.
Lupus Nephritis
Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
Lupus Nephritis
Treatment of exostosin 1-associated membranous lupus nephritis with multiple low doses of rituximab: A case report.
Lymphatic Metastasis
Effect of REG I? protein on angiogenesis in gastric cancer tissues.
Mucopolysaccharidoses
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
Muscular Diseases
A family with limb girdle muscular dystrophy type 1B and multiple exostoses.
Neoplasm Metastasis
Effect of REG I? protein on angiogenesis in gastric cancer tissues.
Neoplasms
A tumorigenic cell line derived from a hamster cholangiocarcinoma associated with Opisthorchis felineus liver fluke infection.
Neoplasms
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Neoplasms
Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.
Neoplasms
Effect of REG I? protein on angiogenesis in gastric cancer tissues.
Neoplasms
Exostosin 1 is expressed in human odontoblasts.
Neoplasms
Exostosin 1 regulates cancer cell stemness in doxorubicin-resistant breast cancer cells.
Neoplasms
Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis.
Neoplasms
EXTL3/EXTR1 alterations in colorectal cancer cell lines.
Neoplasms
Familial Solitary Chondrosarcoma Resulting from Germline EXT2 Mutation.
Neoplasms
Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu.
Neoplasms
Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan.
Neoplasms
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.
Neoplasms
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
Neoplasms
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.
Neoplasms
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Neoplasms
Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha.
Neoplasms
rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate.
Neoplasms
Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo.
Neoplasms
Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor.
Neoplasms
Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion.
Osteochondroma
Cell biology of osteochondromas: bone morphogenic protein signalling and heparan sulphates.
Osteochondroma
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.
Osteochondroma
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.
Osteochondroma
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.
Osteochondroma
The use of Bcl-2 and PTHLH immunohistochemistry in the diagnosis of peripheral chondrosarcoma in a clinicopathological setting.
Osteochondromatosis
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.
Osteosarcoma
Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor.
Sarcoma
Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.
Stomach Neoplasms
Effect of REG I? protein on angiogenesis in gastric cancer tissues.
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metabolism
the enzymes is involved in heparan sulfate biosynthesis. EXT1, NDST1, and NDST2 differentially regulate heparan sulfate biosynthesis in human tooth germ
malfunction
effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo. Silencing of microvascular endothelial cell EXT1 and EXT2 under flow led to significant upregulation of endothelial nitric oxide synthesis and phospho-endothelial nitric oxide synthesis protein expression. Brachial artery flow-mediated dilation is significantly increased in hereditary multiple exostoses patients. In humans, heterozygous loss of function mutation in EXT1 and EXT2 are known to be involved in the development of HME syndrome, a disorder associated with bony tumor formation. In these humans, the loss-of-function mutations lead to alterations in the structure of tissue and plasma heparan sulfate composition, phenotype, overview
malfunction
Ext1 knock-down reduces heparan sulfate, and increases chondrogenic markers and proteoglycan accumulation. Ext1 knock-down reduces active Wnt/beta-catenin signaling
malfunction
screening and identifying the gene mutation of EXT1 associated with multiple exostosis and the expression in tumor tissues
physiological function
heparan sulfate elongation genes EXT1 and EXT2 are involved in heparan sulfate elongation and in maintaining endothelial homeostasis, presumably via increased nitric oxide bioavailability
physiological function
key enzyme contributing to the generation of heparan sulfate chains. EXT1, with tumour suppressor properties, is involved in the initiation and polymerisation of the growing heparan sulfate chain. The study may suggest that no association exists between EXT1 and multiple sclerosis
physiological function
key enzymes contributing to the generation of heparan sulfate chains. EXT1, with documented tumour suppressor properties, is involved in the initiation and polymerisation of the growing heparan sulfate chain
physiological function
the enzyme is involved in heparan sulfate biosynthesis
physiological function
the enzyme is required for heparan sulfate chain elongation in heparan sulfate-proteoglycan biosynthesis. EXT1 affects chondrogenic differentiation of precursor cells, in part via changes in the activity of Wnt/beta-catenin signaling. Wnt/beta-catenin signaling controls Ext1 expression, suggesting a regulatory loop between EXT1 and Wnt/beta-catenin signaling during chondrogenesis
malfunction
effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo, phenotype, overview
malfunction
effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo. Silencing of microvascular endothelial cell EXT1 and EXT2 under flow led to significant upregulation of endothelial nitric oxide synthesis and phospho-endothelial nitric oxide synthesis protein expression. Brachial artery flow-mediated dilation is significantly increased in hereditary multiple exostoses (HME) patients. In humans, heterozygous loss of function mutation in EXT1 and EXT2 are known to be involved in the development of HME syndrome, a disorder associated with bony tumor formation. In these humans, the loss-of-function mutations lead to alterations in the structure of tissue and plasma heparan sulfate composition, phenotype, overview
malfunction
phenotype of four patients showing clinical seizures-scoliosis-macrocephaly syndrome with seizures and macrocephaly due to decreased EXT2 expression and mutations M87R and R95C. SSM syndrome is characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. Phenotype, overview
physiological function
heparan sulfate elongation genes EXT1 and EXT2 are involved in heparan sulfate elongation and in maintaining endothelial homeostasis, presumably via increased nitric oxide bioavailability
physiological function
the enzyme is involved in heparan sulfate biosynthesis
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L462W
naturally occuring mutation in hereditary multiple exostoses syndrome
L46F
naturally occuring mutation in hereditary multiple exostoses syndrome
medicine
the mutation status of patients with multiple osteochondromas correlates with decreased EXT1 or EXT2 expression, loss of EXT expression disrupts the function of the EXT1/2 complex in heparan sulfate proteoglycan biosynthesis, resulting in the intracellular accumulation of heparan sulfate proteoglycan core proteins in tumo tissues
N288K
naturally occuring mutation in hereditary multiple exostoses syndrome
R227D
naturally occuring mutation in hereditary multiple exostoses syndrome
R340H
naturally occuring mutation in hereditary multiple exostoses syndrome
S344F
naturally occuring mutation in hereditary multiple exostoses syndrome
S478L
naturally occuring mutation in hereditary multiple exostoses syndrome
C333R
naturally occuring mutation in hereditary multiple exostoses syndrome
M87R
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
medicine
the mutation status of patients with multiple osteochondromas correlates with decreased EXT1 or EXT2 expression, loss of EXT expression disrupts the function of the EXT1/2 complex in heparan sulfate proteoglycan biosynthesis, resulting in the intracellular accumulation of heparan sulfate proteoglycan core proteins in tumo tissues
R95C
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
V68G
naturally occuring mutation in hereditary multiple exostoses syndrome
Y419X
-
the EXT2 mutation results in a truncated protein
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates
additional information
generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates
additional information
generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
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Wuyts, W.; van Hul, W.
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes
Hum. Mutat.
15
220-227
2000
Homo sapiens
brenda
Busse, M.; Kusche-Gullberg, M.
In vitro polymerization of heparan sulfate backbone by the EXT proteins
J. Biol. Chem.
278
41333-41337
2003
Homo sapiens
brenda
McCormick, C.; Duncan, G.; Goutsos, K.T.; Tufaro, F.
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heapran sulfate
Proc. Natl. Acad. Sci. USA
97
668-673
2000
Bos taurus, Homo sapiens
brenda
Hecht, J.T.; Hayes, E.; Haynes, R.; Cole, W.G.; Long, R.J.; Farach-Carson, M.C.; Carson, D.D.
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes
Differentiation
73
212-221
2005
Homo sapiens
brenda
Dasgupta, U.; Dixit, B.L.; Rusch, M.; Selleck, S.; The, I.
Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu
Dev. Genes Evol.
217
555-561
2007
Drosophila melanogaster, Homo sapiens
brenda
Roberts, I.S.; Gleadle, J.M.
Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
J. Am. Soc. Nephrol.
19
450-453
2008
Homo sapiens
brenda
Nadanaka, S.; Kitagawa, H.
Heparan sulphate biosynthesis and disease
J. Biochem.
144
7-14
2008
Caenorhabditis elegans, Homo sapiens, Homo sapiens (Q16394), Homo sapiens (Q93063), Drosophila melanogaster (Q9V730), Drosophila melanogaster (Q9Y169)
brenda
Busse, M.; Feta, A.; Presto, J.; Wilen, M.; Gronning, M.; Kjellen, L.; Kusche-Gullberg, M.
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation
J. Biol. Chem.
282
32802-32810
2007
Homo sapiens
brenda
Hameetman, L.; David, G.; Yavas, A.; White, S.J.; Taminiau, A.H.; Cleton-Jansen, A.; Hogendoom, P.C.; Bovee, J.V.
Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas
J. Pathol.
211
399-409
2007
Homo sapiens (Q16394), Homo sapiens (Q93063)
brenda
Mooij, H.L.; Cabrales, P.; Bernelot Moens, S.J.; Xu, D.; Udayappan, S.D.; Tsai, A.G.; van der Sande, M.A.; de Groot, E.; Intaglietta, M.; Kastelein, J.J.; Dallinga-Thie, G.M.; Esko, J.D.; Stroes, E.S.; Nieuwdorp, M.
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function
J. Am. Heart Assoc.
3
e001274
2014
Homo sapiens (P70428), Homo sapiens (Q16394), Homo sapiens (Q93063), Mus musculus (P97464)
brenda
Farhan, S.M.; Wang, J.; Robinson, J.F.; Prasad, A.N.; Rupar, C.A.; Siu, V.M.; Siu, V.M.; Hegele, R.A.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
J. Med. Genet.
52
666-675
2015
Homo sapiens (Q93063), Homo sapiens
brenda
Wu, Z.; Wang, Y.; Wang, J.; Chen, Y.; Guo, Y.
The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis
Biochem. Biophys. Res. Commun.
505
959-965
2018
Homo sapiens (Q16394)
brenda
Sembajwe, L.; Katta, K.; Gronning, M.; Kusche-Gullberg, M.
The exostosin family of glycosyltransferases MRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines
Biosci. Rep.
38
1-12
2018
Homo sapiens (Q16394), Homo sapiens (Q93063), Homo sapiens
brenda
Kero, D.; Bilandzija, T.; Arapovic, L.; Vukojevic, K.; Saraga-Babic, M.
Syndecans and enzymes involved in heparan sulfate biosynthesis and degradation are differentially expressed during human dontogenesis
Front. Physiol.
9
732
2018
Homo sapiens (Q16394)
brenda
Okolicsanyi, R.K.; Bluhm, J.; Miller, C.; Griffiths, L.R.; Haupt, L.M.
An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population
Hum. Genomics
14
18
2020
Homo sapiens (Q16394)
brenda
Ushakov, V.; Tsidulko, A.; De La Bourdonnaye, G.; Kazanskaya, G.; Volkov, A.; Kiselev, R.; Kobozev, V.; Kostromskaya, D.; Gaytan, A.; Krivoshapkin, A.; Aidagulova, S.; Grigorieva, E.
Heparan sulfate biosynthetic system is inhibited in human glioma due to EXT1/2 and HS6ST1/2 down-regulation
Int. J. Mol. Sci.
18
2301
2017
Homo sapiens (Q16394), Homo sapiens (Q93063)
brenda
Wang, X.; Cornelis, F.M.F.; Lories, R.J.; Monteagudo, S.
Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation
Osteoarthritis Cartilage
27
1702-1710
2019
Homo sapiens (Q16394)
brenda