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