The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
about
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromasXT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activityDeregulation of the carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11) gene in a B-cell chronic lymphocytic leukemia with a t(12;14)(q23;q32)MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signaturesPancreatic reg I binds MKP-1 and regulates cyclin D in pancreatic-derived cellsHeparan sulfate: lessons from knockout miceA pectin glucuronyltransferase gene is essential for intercellular attachment in the plant meristem.Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects.Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturationDefective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Molecular diversity of heparan sulfate.The Caenorhabditis elegans vulval morphogenesis gene sqv-4 encodes a UDP-glucose dehydrogenase that is temporally and spatially regulated.Plant cell adhesion: a bioassay facilitates discovery of the first pectin biosynthetic gene.Molecular-pathogenetic classification of genetic disorders of the skeleton.Mammalian heparanase: what is the message?Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volumeEvolution of glycosaminoglycans and their glycosyltransferases: Implications for the extracellular matrices of animals and the capsules of pathogenic bacteria.Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencingDevelopmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway.Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrestOf hedgehogs and hereditary bone tumors: re-examination of the pathogenesis of osteochondromas.Heparan sulfate regulates ephrin-A3/EphA receptor signaling.Perlecan, the "jack of all trades" proteoglycan of cartilaginous weight-bearing connective tissues.The skeletal manifestations of the congenital disorders of glycosylation.Rare monogenetic syndromes in rheumatology practice.Novel mutation of EXT2 identified in a large family with multiple osteochondromasGlycosaminoglycan polysaccharide biosynthesis and production: today and tomorrow.Epigenetic Regulation of the Biosynthesis & Enzymatic Modification of Heparan Sulfate Proteoglycans: Implications for Tumorigenesis and Cancer Biomarkers.Glycosaminoglycan overproduction in the aorta increases aortic calcification in murine chronic kidney disease.Regulation of xylosyltransferase I gene expression by interleukin 1β in human primary chondrocyte cells: mechanism and impact on proteoglycan synthesis.Anatomical variation of co-existence of 4th and 5th short metacarpal bones, sesamoid ossicles and exostoses of ulna and radius in the same hand: a case report.New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.Peripheral chondrosarcoma progression is accompanied by decreased Indian Hedgehog signalling.Increased expression of matrilin-3 not only in osteoarthritic articular cartilage but also in cartilage-forming tumors, and down-regulation of SOX9 via epidermal growth factor domain 1-dependent signaling.Bioactive hydrogels for bone regeneration.
P2860
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P2860
The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The link between heparan sulfa ...... tive tumor suppressor proteins
@ast
The link between heparan sulfa ...... tive tumor suppressor proteins
@en
The link between heparan sulfa ...... tive tumor suppressor proteins
@nl
type
label
The link between heparan sulfa ...... tive tumor suppressor proteins
@ast
The link between heparan sulfa ...... tive tumor suppressor proteins
@en
The link between heparan sulfa ...... tive tumor suppressor proteins
@nl
prefLabel
The link between heparan sulfa ...... tive tumor suppressor proteins
@ast
The link between heparan sulfa ...... tive tumor suppressor proteins
@en
The link between heparan sulfa ...... tive tumor suppressor proteins
@nl
P2093
P2860
P3181
P356
P1476
The link between heparan sulfa ...... tive tumor suppressor proteins
@en
P2093
P2860
P3181
P356
10.1172/JCI13737
P407
P577
2001-08-01T00:00:00Z