Recombinant Human Xylosyltransferase 1 (XYLT1), partial

1. In conclusion, we identified two genes, DZIP1 and XYLT1, potentially associated with nonsyndromic high myopia using whole exome sequencing and subsequent mutation screening analysis. PMID: 28085539
2. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2, have been reported. PMID: 27881841
3. Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 deficiency. PMID: 27030147
4. XYLT1 mutation is associated with short limb skeletal dysplasia. PMID: 26601923
5. Human XYLT1 promoter sequence analysis and description. PMID: 25480529
6. These results suggest that XT-1 expression is refractory to the disease process and to inhibition by inflammatory cytokines and that signaling through AP-1, Sp1, and Sp3 is important in the maintenance of XT-1 levels in NP cells. PMID: 25476526
7. five distinct homozygous XYLT1 mutations may have a role in Desbuquois dysplasia type 2 PMID: 24581741
8. A family study shows that functional alterations of XYLT1 cause an autosomal recessive short stature syndrome associated with intellectual disability. PMID: 23982343
9. XYLT1 activity increased time-dependently in response to progressive myofibroblast transformation. PMID: 23747722
10. AP-1 and Sp3 are key regulators of IL-1beta-mediated modulation of xylosyltransferase I expression. PMID: 23223231
11. Xylosyltransferase-I regulates glycosaminoglycan synthesis during the pathogenic process of human osteoarthritis PMID: 22479506
12. DXD motifs in human xylosyltransferase I are required for enzyme activity PMID: 15294915
13. Elevated XYLT1 activities in pseudoxanthoma elasticum patients is a marker of proteoglycan biosynthesis. PMID: 16133423
14. xylotransferase genes might be potential candidate genes predisposing to diabetic nephropathy in type 1 diabetic patients PMID: 16164625
15. Over 80% of the nucleotide sequence of the XT-I-cDNA is necessary for expressing a recombinant enzyme with full catalytic activity. PMID: 16225459
16. recombinant expression and cloning of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II PMID: 16569644
17. Variations in the XYLT-II gene are genetic co-factors in the severity of PXE. PMID: 16571645
18. Increased levels of xylosyltransferase I correlates with the formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells. PMID: 16778156
19. The XYLT-I c.343G>T polymorphism contributes to the genetic susceptibility to development of diabetic nephropathy in type 1 diabetic patients. PMID: 17003309
20. TGF-beta(1) and mechanical stress induce xylosyltransferase I expression in cardiac fibroblasts and have impact for ECM remodeling in the dilated heart. PMID: 17635914
21. For the rate-limiting enzyme in glycosaminoglycan synthesis XT-I, maximal mRNA expression and enzyme activity were observed 10 days after osteogenic induction of mesenchymal stem cells, simultaneously to the beginning of ECM mineralization. PMID: 17980567
22. results show that XT-I polymorphisms potentially confer to the genetic susceptibility of abdominal aortic aneurysm PMID: 18294457
23. These results point to skeletal growth and tissue remodeling as a cause of the high XT activity in children PMID: 18763033
24. Data show that the xylosyltransferase I SNP is associated with a decreased glycosaminoglycan amount in the serum of healthy blood donors. PMID: 19014925
25. No statistically significant association was found between four XYLT variants and hypertension or blood pressure, suggesting that they do not play a significant role in the development of essential hypertension. PMID: 19197251
26. AP-1 Sp1 family of transcription factors are necessary for the transcriptional regulation of the XYLT1 gene. PMID: 19762916

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HGNC: 15516

OMIM: 264800

KEGG: hsa:64131

STRING: 9606.ENSP00000261381

UniGene: Hs.22907