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anti-Human EXT1 Antibodies:
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Human Polyclonal EXT1 Primary Antibody for IF, WB - ABIN515425
Tian, Yan, Wen, Li, Li, Cai, Li, Du, Chen: A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. in PLoS ONE 2014
Human Polyclonal EXT1 Primary Antibody for IHC, IHC (p) - ABIN4309793
Coulson-Thomas, Gesteira, Esko, Kao: Heparan sulfate regulates hair follicle and sebaceous gland morphogenesis and homeostasis. in The Journal of biological chemistry 2014
In a family with Multiple Osteochondromas a heterozygous mutation (c.1056G>T) was identified in exon 2 of the EXT1 gene in the proband and other affected family members; this mutation was not found in the unaffected family members.
Mutations in EXT1 c.79 T>A and c.1284 + 8 delAT are associated with hereditary multiple exostosis (HME) in Chinese patients
Heterozygous splice mutation in exostosin glycosyltransferase 1 (EXT1) gene is identified in a threegeneration family with hereditary multiple exostoses (HME).The expression of wildtype EXT1/EXT2 mRNA in patients with HME is decreased comparing with normal control participants. The truncated peptide produced from the abnormally spliced transcript is expressed in the cytoplasm without degradation.
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
The present study identified pathogenic mutations in 93% (68/73) of unrelated hereditary multiple osteochondromasprobands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families.
Exons and flanking regions of the EXT1 and EXT2 genes were analyzed from the genomic DNA of 153 patients in 114 families with multiple osteochondromas. We identified 33 variants in EXT1 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2 gene. Of all 50 variants, 31 (62%) were novel.
RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
The nine mutations identified by targeted next-generation sequencing include two missense mutations (EXT1: c.1088G>A and c.2120C>T), one splicing mutation (EXT2: c.744-1G>T)
A novel heterozygous frameshift mutation was found in exon 4 of the exostosin-1 (EXT1) gene in the proband and the other 6 hereditary multiple exostosis (HME) affected individuals.
EXT1, a gene not previously linked to acute lymphoblastic leukemia via mutations, is a common interactor of NOTCH1 and FBXW7 regulating the NOTCH pathway in an FBXW7-dependend manner.
A novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene is associated with multiple osteochondroma.
EXT1 is up regulated in patients after chronic rhinosinusitis, developing osteitis.
Owing to the appearance of c.335_336insA in exon 1 of exotosin 1, a premature stop codon was introduced, resulting in truncated exotosin 1. As a result integrated and functional exotosin 1 was reduced.
We report the discovery of a non-sense mutation in EXT2 in an 11-y-old boy diagnosed with multiple osteochondroma.
We found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese multiple osteochondromas families.
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans
EXT1 mutation is associated with multiple osteochondromatosis.
Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
there is a putative genetic connection between TCF7L2 and EXT in the context of Hereditary Multiple Exostoses
loss of function of EXT1 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development.
reactivating SHH signaling in mutant lungs rescued the tip dilation phenotype and attenuated FGF signaling. Importantly, the reduced SHH signaling activity did not appear to be caused by decreased Shh expression or protein stability; instead, biologically active form of SHH proteins were reduced in both the Ext1 mutant epithelium and surrounding wild type mesenchymal cells.
crucial for outflow tract formation in distinct progenitor cells and modulates FGF signaling during early heart development
Normal heparin sulfate levels and Ext1 activity in the stromal microenvironment and hematopoietic stem cells are required for the transplant engraftment following non-myeloablative conditioning.
Ext genes and heparan sulfate are needed to establish and maintain perichondrium's phenotype and border function.
Levels of Ext1 and HPSE influence the motility of FBJ osteosarcoma cells.
stromal Ext1-levels modulate tumor cell proliferation and affect the interstitial fluid pressure in a 3-D spheroid model.
The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
local Ext1 expression and heparan sulfate production are needed to maintain the phenotype and function of joint-forming cells.
Ext1 has a role in regulation of bone morphogenic protein signaling and skeletal defects
inactivation of Ext1 in a small fraction of chondrocytes is sufficient for the development of osteochondromas and other skeletal defects associated with multiple hereditary exostoses
for a model of multiple osteochondromas, we created the chimeric tissue genotype of somatic loss of heterozygosity, by conditionally inactivating Ext1 in chondrocytes
loss of heterozygosity is required for osteochondroma formation and a proliferating chondrocyte is suggested as its cell of origin
Induction of EXT1 knockdown in vivo dramatically suppresses the growth of bone marrow localized myeloma.
Data suggest that the length of the heparan sulfate (HS) chains is a critical determinant of HS-protein interactions and emphasize the essential role of EXT1 in providing specific binding sites for growth factors and extracellular matrix proteins.
EXT1 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT1 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
Ext1 may have a role in normal mouse development
Reduced heparan sulfate synthesis in mice carrying a hypomorphic mutation in Ext1 results in an elevated range of Indian hedgehog (Ihh) signaling during embryonic chondrocyte differentiation.
Defects in EXT1 and the resulting reduction in heparan sulfate lead to enhanced Indian hedgehog diffusion causing an increase in chondrocyte proliferation and delayed hypertrophic differentiation.
NDST1 competes with EXT1 for binding to EXT2.
the three zebrafish ext1 genes encode proteoglycan modifying enzymes and have distinct relationships to somitic Sonic hedgehog signaling
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
, Langer-Giedion syndrome chromosome region
, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
, exostoses (multiple) 1
, exostosin 1
, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, multiple exostoses protein 1
, putative tumor suppressor protein EXT1
, multiple exostoses protein 1 homolog
, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase 1b
, multiple exostoses protein 1 homolog b
, Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, Multiple exostoses protein 1 homolog
, exostoses-like 1
, Heparan sulfate copolymerase