Recombinant Human Exostosin-1 (EXT1), partial

1. 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. PMID: 30334991
2. 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. PMID: 29529714
3. 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. PMID: 29104277
4. 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) PMID: 28690282
5. 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. PMID: 29419870
6. 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. PMID: 27229929
7. 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. PMID: 28604967
8. EXT1 is up regulated in patients after chronic rhinosinusitis, developing osteitis. PMID: 27888647
9. 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. PMID: 28035357
10. We report the discovery of a non-sense mutation in EXT2 in an 11-y-old boy diagnosed with multiple osteochondroma. PMID: 25591329
11. We found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese multiple osteochondromas families. PMID: 26961984
12. Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans PMID: 25568062
13. EXT1 mutation is associated with multiple osteochondromatosis. PMID: 25230886
14. Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation. PMID: 25468659
15. there is a putative genetic connection between TCF7L2 and EXT in the context of Hereditary Multiple Exostoses PMID: 25498973
16. loss of function of EXT1 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development. PMID: 25541963
17. Results provide a new frameshift mutation in EXT1, further emphasizing the dysfunction of the EXT gene family as a cause of hereditary multiple exostosis. PMID: 25421355
18. exostosin 1 (EXT1), which is involved in biosynthesis of heparan sulfate, plays a role in filovirus entry PMID: 25741008
19. EXT1 and EXT2 heterozygous mutations in 18 (54.6 %) and ten (30.3 %) probands respectively, which represents a total of 28 (84.9 %) index cases. PMID: 24532482
20. a novel disease-causing EXT1 mutation in a pedigree with Hereditary multiple exostoses PMID: 24297320
21. splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations PMID: 24568913
22. Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. PMID: 24009674
23. these findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of multiple osteochondromas in Chinese patients. PMID: 24120389
24. Novel and recurrent mutations occur in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. PMID: 23629877
25. we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel. PMID: 23439489
26. Results indicate that intronic deletion and duplication of EXT1 as a causative mechanism for multiple osteochondromas (MO) not detected by conventional diagnostic methods. PMID: 23341036
27. No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease. PMID: 23450490
28. 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis. PMID: 23262345
29. analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients PMID: 22820392
30. A novel nonsense mutation of EXT1 gene found in patient diagnosed with multiple hereditary exostoses. PMID: 22637216
31. Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas. PMID: 22040554
32. A polymorphic G/C-SNP at -1158 bp (rs34016643) was demonstrated to be located in a USF1 transcription factor binding site, which is lost with the presence of the C-allele resulting in a ~56% increase in EXT1 promoter activity. PMID: 22037484
33. Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis. PMID: 21499719
34. Molecular characterization of EXT1- and EXT2-deletion breakpoints in multiple osteochondroma indicates that non-allelic homologous recombination between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring. PMID: 21703028
35. Out of the 17 patient samples with previously undetected mutations, a low level of deletion of the EXT1 gene in about 10-15% of the blood cells was detected in two patients and mosaic deletion of the EXT2 was detected in one patient. PMID: 21280143
36. 8 novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses were identified. PMID: 21039224
37. Loss of heterozygosity for EXT1 is associated with multiple osteochondromas. PMID: 20813973
38. This heterozygous mutation in the EXT1 gene must be classified as pathogenic and can be regarded as the cause of hereditary multiple exostosis (HME) in this Chinese family. PMID: 20578942
39. we found a splice site mutation in the EXT1 gene intron 5 (IVS5-2 A > G) resulting in the deletion of 9 bp of cDNA encoding three evolutionarily conserved amino acid residues. This child patient suffered from a severe form of exostoses. PMID: 20618940
40. results clearly indicate that, in most cases, biallelic inactivation of EXT genes does not account for osteochondromas formation; this mechanism should be regarded as a common feature for hereditary osteochondromas transformation PMID: 20418910
41. A novel EXT1 gene mutation causing hereditary multiple exostoses occurred in a Chinese family. PMID: 20025490
42. Two novel EXT1 gene mutations and two novel EXT2 gene mutations were identified in two and three hereditary multiple exostoses pedigrees, respectively. PMID: 19839753
43. deletion mutation of EXT1 is associated with autism in two patients with hereditary multiple exostoses PMID: 12032595
44. EXT1 alone and the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins PMID: 12907669
45. EXT1 function is abrogated in human cancer cells by transcriptional silencing associated with CpG island promoter hypermethylation. The epigenetic inactivation of EXT1, a glycosyltransferase, leads to the loss of heparan sulfate synthesis PMID: 15385438
46. Variations in EXT1 gene is associated with multiple osteochondromas PMID: 15586175
47. Promoter methylation was not detected in any of the chondrosarcoma cases in EXT1. PMID: 15796962
48. ANovel heterozygous acceptor splice site mutation of EXT1 results in hereditary multiple exostosis(HME) associated with low peak bone mass. Possible additional role for EXT1 in bone biology and in regulating bone density. PMID: 15985493
49. analysis of multiple osteochondroma-related mutations in EXT1 and EXT2 PMID: 16088908
50. We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene)in hereditary multiple exostoses PMID: 16638657

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HGNC: 3512

OMIM: 133700

KEGG: hsa:2131

STRING: 9606.ENSP00000367446

UniGene: Hs.492618