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EXT1, a gene not previously linked to acute lymphoblastic leukemia via mutations, is a common interactor of NOTCH1 (show NOTCH1 Proteins) and FBXW7 (show FBXW7 Proteins) regulating the NOTCH (show NOTCH1 Proteins) pathway in an FBXW7 (show FBXW7 Proteins)-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.
We report the discovery of a non-sense mutation in EXT2 in an 11 (show DCAF7 Proteins)-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 (show INS Proteins) secretion capacity and development.
reactivating SHH (show SHH Proteins) signaling in mutant lungs rescued the tip dilation phenotype and attenuated FGF signaling. Importantly, the reduced SHH (show SHH Proteins) signaling activity did not appear to be caused by decreased Shh (show SHH Proteins) expression or protein stability; instead, biologically active form of SHH (show SHH Proteins) proteins were reduced in both the Ext1 mutant epithelium and surrounding wild type mesenchymal cells.
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 (show HPSE Proteins) 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
the three zebrafish ext1 genes encode proteoglycan (show Vcan Proteins) modifying enzymes and have distinct relationships to somitic Sonic hedgehog (show SHH Proteins) 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
, sushi repeat-containing protein
, sushi repeat-containing protein SRPX