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Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
The EXT2 gene encodes an essential component of the glycosyltransferase complex required for biosynthesis of heparan sulfate, which may eventually modulate the signaling involved in bone formation
EXT2 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT2 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
NDST1 competes with EXT1 for binding to EXT2.
The mutation results in deletion of exon 5 in the mRNA, producing a frameshift that leads to a premature termination codon. The present study extends the mutational spectrum of EXT2.
Authors identified two homozygous mutations p.Met87Arg and p.Arg95 Cys in exostosin 2, EXT2, a ubiquitously expressed gene that encodes a glycosyltransferase. In patient cells, diminished expression and function was observed.
We report the discovery of a non-sense mutation in EXT2 in an 11 (show DCAF7 ELISA Kits)-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.
EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population.
EXT2 mutation is associated with multiple osteochondromatosis.
loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin (show INS ELISA Kits) secretion capacity and development.
Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity
The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2.
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, multiple exostoses protein 2 homolog
, exostoses (multiple) 2
, glucuronyl/N-acetylglucosaminyl transferase
, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
, multiple exostoses protein 2
, putative tumor suppressor protein EXT2