PAX4 Antibody

1. genetic association studies in population in Republic of Korea: Data suggest that SNPs in PAX4 and GLP1R are associated with type 2 diabetes (T2D) in the population studied. In genome-wide associations, PAX4 Arg192His increased risk of T2D; GLP1R Arg131Gln decreased risk of T2D. (PAX4 = paired box 4 protein; GLP1R = glucagon-like peptide 1 receptor) PMID: 29941447
2. The rs10229583 polymorphism near PAX4 is associated with gestational diabetes mellitus in Chinese women. PMID: 28730907
3. Study identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes. PMID: 27744525
4. Viability of beta-cell was reduced under glucotoxic stress condition for the cells overexpressing either PAX4 R192H or PAX4 P321H or both. Thus these PAX4 polymorphisms may increase T2D risk by defective transcription regulation of target genes and/or decreased beta-cell survival in high glucose condition. PMID: 27334367
5. PAX4 IVS7-1G>A contributes to the pathogenesis of diabetes in this maturity-onset diabetes of the young, type 9 family through beta-cell dysfunction PMID: 25951767
6. The PAX4 variant rs6467136 was associated with the therapeutic effect of rosiglitazone in Chinese T2DM patients. PMID: 24752311
7. PAX4-miR-144/451-ADAMs axis regulates human epithelial cancer metastasis PMID: 25151965
8. These data suggest that acute PAX4 overexpression can reduce expression of aristaless related homeobox and glucagon during embryonic stem cell differentiation resulting in improved numbers of unihormonal insulin-positive cells. PMID: 25483960
9. Tph1 and increased EC cell number occurred before the onset of obesity and hyperleptinemi. In addition, leptin deficiency was associated with reduced Pax4 mRNA, oral leptin treatment enhanced both Tph1 and Pax4 mRNA. PMID: 24468700
10. MAFA nuclear expression in pancreatic alpha and beta cells, and the percentage of alpha cells expressing PAX4 are altered in patients with type 2 diabetes. PMID: 24013263
11. PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to beta-cell dysfunction associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes. PMID: 22521316
12. A1168C polymorphism in PAX4 gene may not play an essential role in the genetic susceptibility of the islet autoantibody-negative ketosis-prone diabetes in Chinese Han population. PMID: 20360641
13. A novel mutation of PAX4 is likely to be associated with diabetes in this Japanese family. PMID: 21263211
14. study did not detect causal mutations in the PAX4 gene in a large group of Czech MODYX probands, which may suggest-together with data from other European populations- MODY in Caucasians could only very rarely, if ever, be attributed to PAX4 mutations PMID: 21059099
15. PAX4 R192H mutation (rs2233580) was significantly associated with impaired glucose tolerance in childhood acute lymphoblastic leukemia. PMID: 20485196
16. The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population PMID: 17633464
17. Sixteen single-nucleotide polymorphisms(SNPs) were evaluated for IRS1 and 10 for PAX4. Transmission disequilibrium testing neither show type I diabetes association of SNPs in the two genes, nor did haplotype analysis. PMID: 19956100
18. Four genes, PCSK1, (P=0.008), EGFR,(P=0.003), PAX4,(P=0.008), and LYN,(P=0.002) consistently yielded statistical evidence for association with longevity. PMID: 19641380
19. Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factor Pax4. PMID: 12200761
20. The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans. PMID: 12604352
21. The expression of this gene is regulated by REST protein. PMID: 12829700
22. Located at 7q32 and participates downstream of ISL1 in the transcription factor cascade critical to beta-cell development. Association with type 1 diabetes was also observed using the transmission disequilibrium test for two haplotypes at the PAX4 locus. PMID: 15161765
23. The mechanism by which the beta-cell transcription factor Pax4 influences cell function/mass was studied in human islets of Langerhans. PMID: 15596543
24. Pax4 is an essential regulator of pancreatic beta-cell development [review] PMID: 15650323
25. C/C genotype of the A1168C polymorphism in PAX4 can be viewed as a predisposition marker that can help to detect individuals prone to develop type 1 diabetes. PMID: 15834548
26. A predisposition marker for susceptibility for type 1 diabetes. PMID: 15838687
27. The data indicate that the +1,168 C/A variant of PAX4 gene does not play any essential role in genetic type 1 diabetes susceptibility. PMID: 16123375
28. The Arg121Trp variant in the PAX4 gene is associated with beta cell dysfunction in Japanese subjects with type 2 diabetes. mellitus. PMID: 16423628
29. activin A enhances PAX4 expression by enhanced transactivation of E47/E12 proteins and might result in a cumulative transactivation of the promoter PMID: 16546275
30. Forced expression of the PAX4 gene in the HEK293 and SHSY/610 cell lines conferred positive effects on cell growth. This profile of PAX4 thus corresponds to that of a candidate oncogene in hematologic malignancies. PMID: 16701883
31. two possible pathogenic mutations of PAX4, R164W, and IVS7-1G>A; for one, we have shown evidence of segregation with diabetes and a functional impact on PAX4 activity and polymorphism R192H might influence the age at onset of diabetes PMID: 17426099
32. Pax4 protein transduction could be a safe and valuable strategy for protecting islet cell growth in culture from apoptosis and promoting islet cell differentiation. PMID: 17717051
33. pax4 gene expression is epigenetically regulated and induced by physiological stimuli through the concerted action of multiple signalling pathways. PMID: 17989064
34. Constitutive expression of Pax4 in HESC substantially enhances their propensity to form putative beta-cells. Our findings provide a novel foundation to study the mechanism of pancreatic beta-cells differentiation during early human development PMID: 18335054
35. PAX4 has the potential to function as a tumor suppressor in human melanoma. PMID: 18949370

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HGNC: 8618

OMIM: 125853

KEGG: hsa:5078

UniGene: Hs.129706