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Disease on EC 2.4.1.225 - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
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.
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.
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.
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.
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.
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.
Familial Solitary Chondrosarcoma Resulting from Germline EXT2 Mutation.
Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu.
Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans.
Glycosaminoglycans in blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application.
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.
Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.
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.
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.
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
Primary Membranous Nephropathy With Enhanced Staining of Exostosin 1/Exostosin 2 in the Glomeruli: A Report of 2 Cases.
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.
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.
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.
Effect of REG I? protein on angiogenesis in gastric cancer tissues.
Exostosin 1 is expressed in human odontoblasts.
Exostosin 1 regulates cancer cell stemness in doxorubicin-resistant breast cancer cells.
Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis.
EXTL3/EXTR1 alterations in colorectal cancer cell lines.
Familial Solitary Chondrosarcoma Resulting from Germline EXT2 Mutation.
Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu.
Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan.
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.
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha.
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.
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.
Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor.
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.
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.
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.