Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity
about
Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromasMultiple osteochondromasThe link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteinsUnsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice.A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.Hip joint osteochondroma: systematic review of the literature and report of three further cases.Molecular-pathogenetic classification of genetic disorders of the skeleton.Evolution of glycosaminoglycans and their glycosyltransferases: Implications for the extracellular matrices of animals and the capsules of pathogenic bacteria.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyDeletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyleMutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostosesβ-D-xylosides stimulate GAG synthesis in chondrocyte cultures due to elevation of the extracellular GAG domains, accompanied by the depletion of the intra-pericellular GAG pools, with alterations in the GAG profiles.Correction of knee and ankle valgus in hereditary multiple exostoses using the Ilizarov apparatus.Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference.The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparanDefective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chainHeparan sulfate antagonism alters bone morphogenetic protein signaling and receptor dynamics, suggesting a mechanism in Hereditary Multiple Exostoses.Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residueDefective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan_R-HSA-3656253Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation
P2860
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P2860
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին 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
Etiological point mutations in ...... an sulfate polymerase activity
@ast
Etiological point mutations in ...... an sulfate polymerase activity
@en
Etiological point mutations in ...... an sulfate polymerase activity
@nl
type
label
Etiological point mutations in ...... an sulfate polymerase activity
@ast
Etiological point mutations in ...... an sulfate polymerase activity
@en
Etiological point mutations in ...... an sulfate polymerase activity
@nl
prefLabel
Etiological point mutations in ...... an sulfate polymerase activity
@ast
Etiological point mutations in ...... an sulfate polymerase activity
@en
Etiological point mutations in ...... an sulfate polymerase activity
@nl
P2093
P2860
P356
P1476
Etiological point mutations in ...... an sulfate polymerase activity
@en
P2093
P2860
P356
10.1086/321278
P407
P577
2001-06-05T00:00:00Z