Recombinant Human Amelogenin, X isoform (AMELX)

1. High AMEL expression is associated with Aggressiveness in Odontogenic Tumors. PMID: 29802703
2. To the best of our knowledge, this is the first report of expression of human amelogenin in plants, offering the possibility to use this plant-made protein for nanotechnological applications. PMID: 28801830
3. a single-nucleotide polymorphism in the amelogenin gene using amplified product-length polymorphisms in combination with sex-determining region Y analysis, is reported. PMID: 28052096
4. Full-length amelogenin may have a negative mitogenic impact on human dental pulp stem cells. PMID: 26762641
5. suggestive overrepresentation of TT genotype of amelogenin marker in cases w/severe erosion when compared to no dentine erosion. Amelogenin also associated with severe erosion in recessive model; TT genotype significantly more frequent in affected group PMID: 25791822
6. Studies indicate that a single point mutation (41Pro-->Thr) in the amelogenin gene causes severe dental enamel malformation known as amelogenesis imperfect. PMID: 26545753
7. sequencing data showed presence of mutation. Samples showing mutation (43.3%) showed high correlation with caries (80.7%) experience which was statistically significant. PMID: 26551370
8. silent mutation in exon 4 of AMELX gene. generating and characterizing transgenic animal model, alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization. PMID: 25117480
9. Conversion to amelogenin expressing dental epithelial cells involved an up-regulation of the stem cell marker Sox2 and proliferation genes and decreased expression of mesenchymal markers PMID: 25122764
10. the interaction of amelogenin with Grp78/Bip contributed to cell proliferation, rather than correlate with the osteogenic differentiation PMID: 24167599
11. demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci PMID: 23948316
12. Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample. PMID: 23790503
13. The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population's genetic background, for individual identification. PMID: 23733431
14. Deletion of AMELX results in males with a characteristic snow-capped enamel phenotype. PMID: 23251683
15. Evolutionary and statistical analyses showed that none of the SNPs identified in this study were associated with caries susceptibility, suggesting that AMELX is not a gene candidate in our studied population. PMID: 23525533
16. These results suggest that SNPs of AMELX might be associated with dental caries susceptibility in Korean population. PMID: 21114591
17. A single Pro-70 to Thr (p.P70T) mutation of amelogenin affected the self-assembly and adsorption behaviour of amelogenin, resulting in increased binding to apatite and inhibited crystal growth. PMID: 21081224
18. These results suggest that hAm may be a key element in regulating hBMSCs osteogenic differentiation. PMID: 21514271
19. Perturbed amelogenin secondary structure leads to uncontrolled aggregation in amelogenesis imperfecta mutant proteins. PMID: 20929860
20. amelogenin may stimulate wound healing by providing connective tissue cells with a temporary extracellular matrix PMID: 20012165
21. frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta PMID: 11839357
22. self-assembly and apatite binding properties of amelogenin proteins lacking the hydrophilic C-terminal. PMID: 11852235
23. Altered amelogenin self-assembly based on mutations observed in human X-linked amelogenesis imperfecta (AIH1). PMID: 11877393
24. C-terminus of the normal amelogenin protein is important for controlling enamel thickness. PMID: 11922869
25. 2 mutations within coding region for amelogenin signal peptide predicted to interfere with secretion of amelogenin; could help clinicians in making diagnosis of X-linked AI. PMID: 15111628
26. Two synonymous single-nucleotide polymorphisms were found in databases. Alignment of the primate exon 6 sequences revealed that AMELX is highly constrained. PMID: 17645864
27. Amelogenin locus in chimerism monitoring of stem cell patients transplanted. PMID: 17688372
28. Having at least one copy of the rare amelogenin marker allele was associated with increased age-adjusted caries experience. PMID: 18042988
29. Binding of the P41T mutant amelogenin for matrix metalloproteinase 20 was significantly lower than that of wild-type amelogenin. PMID: 18434575
30. Prolines at the amelogenin C terminus are essential for the initial processing of amelogenin and amelogenin-mineral interactions. PMID: 18701806
31. A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified. PMID: 18714142
32. Overrepresentation of C allele of amelogenin marker was seen in dmft scores higher than 8 when compared to controls. Overrepresentation of T allele of ameloblastin marker was seen in dmfs scores higher than 10 when compared to controls. PMID: 18781068
33. Amelogenin can adsorb onto surfaces as small structures that "shed" or disassemble from the nanospheres that are present in solution. PMID: 19025992
34. Forensic genetic genotyping system using amelogenin using single nucleotide polymorphism. PMID: 19083859
35. In a family with a hypomaturation-type enamel defect, mutational and haplotype analyses revealed no mutations in the AMELX gene. PMID: 19966041

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HGNC: 461

OMIM: 300391

KEGG: hsa:265

UniGene: Hs.654436