| PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development. | PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.
Lau HH, Krentz NAJ, Abaitua F, Perez-Alcantara M, Chan JW, Ajeian J, Ghosh S, Lee Y, Yang J, Thaman S, Champon B, Sun H, Jha A, Hoon S, Tan NS, Gardner DS, Kao SL, Tai ES, Gloyn AL, Teo AKK., Free PMC Article | 10/10/2023 |
| Pax4 in Health and Diabetes. | Pax4 in Health and Diabetes.
Ko J, Fonseca VA, Wu H., Free PMC Article | 05/22/2023 |
| Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes. | Ethnic-Specific Type 2 Diabetes Risk Factor PAX4 R192H Is Associated with Attention-Specific Cognitive Impairment in Chinese with Type 2 Diabetes.
Ang SF, Low S, Ng TP, Tan CSH, Ang K, Lim Z, Tang WE, Subramaniam T, Sum CF, Lim SC. | 07/9/2022 |
| Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. | Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA., Free PMC Article | 04/30/2022 |
| Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis. | Transcription factor PAX4 facilitates gastric cancer progression through interacting with miR-27b-3p/Grb2 axis.
Zhang Y, Ding L, Ni Q, Tao R, Qin J., Free PMC Article | 07/24/2021 |
| [Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity]. | [Alternative Variants of Pax4 Human Transcription Factor: Comparative Transcriptional Activity].
Melnikova AI, Krasnova TS, Zubkova NA, Tiulpakov AN, Rubtsov PM. | 01/2/2021 |
| 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) | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population.
Kwak SH, Chae J, Lee S, Choi S, Koo BK, Yoon JW, Park JH, Cho B, Moon MK, Lim S, Cho YM, Moon S, Kim YJ, Han S, Hwang MY, Cho YS, Lee MS, Jang HC, Kang HM, Park T, Cho NH, Kim K, Kim JI, Park KS. | 09/8/2018 |
| The rs10229583 polymorphism near PAX4 is associated with gestational diabetes mellitus in Chinese women. | The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women.
Xu T, Shi Y, Liu J, Liu Y, Zhu A, Xie C, Zhang Y, Chen Y, Ren L., Free PMC Article | 08/4/2018 |
| 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. | Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals.
Cheung CY, Tang CS, Xu A, Lee CH, Au KW, Xu L, Fong CH, Kwok KH, Chow WS, Woo YC, Yuen MM, Hai JS, Jin YL, Cheung BM, Tan KC, Cherny SS, Zhu F, Zhu T, Thomas GN, Cheng KK, Jiang CQ, Lam TH, Tse HF, Sham PC, Lam KS. | 09/2/2017 |
| 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. | PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.
Sujjitjoon J, Kooptiwut S, Chongjaroen N, Semprasert N, Hanchang W, Chanprasert K, Tangjittipokin W, Yenchitsomanus PT, Plengvidhya N. | 04/8/2017 |
| 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 | Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9.
Sujjitjoon J, Kooptiwut S, Chongjaroen N, Tangjittipokin W, Plengvidhya N, Yenchitsomanus PT. | 12/17/2016 |
| The PAX4 variant rs6467136 was associated with the therapeutic effect of rosiglitazone in Chinese T2DM patients. | Association of PAX4 genetic variants with oral antidiabetic drugs efficacy in Chinese type 2 diabetes patients.
Chen M, Hu C, Zhang R, Jiang F, Wang J, Peng D, Tang S, Sun X, Yan J, Luo Y, Bao Y, Jia W. | 10/17/2015 |
| PAX4-miR-144/451-ADAMs axis regulates human epithelial cancer metastasis | Transcriptional control of PAX4-regulated miR-144/451 modulates metastasis by suppressing ADAMs expression.
Zhang J, Qin X, Sun Q, Guo H, Wu X, Xie F, Xu Q, Yan M, Liu J, Han Z, Chen W. | 09/5/2015 |
| 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. | Overexpression of PAX4 reduces glucagon expression in differentiating hESCs.
Gage BK, Baker RK, Kieffer TJ., Free PMC Article | 08/8/2015 |
| 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. | Overexpression of gastric leptin precedes adipocyte leptin during high-fat diet and is linked to 5HT-containing enterochromaffin cells.
Le Beyec J, Pelletier AL, Arapis K, Hourseau M, Cluzeaud F, Descatoire V, Ducroc R, Aparicio T, Joly F, Couvelard A, Marmuse JP, Le Gall M, Bado A. | 06/20/2015 |
| 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. | Both PAX4 and MAFA are expressed in a substantial proportion of normal human pancreatic alpha cells and deregulated in patients with type 2 diabetes.
Bonnavion R, Jaafar R, Kerr-Conte J, Assade F, van Stralen E, Leteurtre E, Pouponnot C, Gargani S, Pattou F, Bertolino P, Cordier-Bussat M, Lu J, Zhang CX., Free PMC Article | 05/24/2014 |
| 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. | Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes.
Kooptiwut S, Plengvidhya N, Chukijrungroat T, Sujjitjoon J, Semprasert N, Furuta H, Yenchitsomanus PT. | 01/26/2013 |
| 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. | [PAX4 gene polymorphism and islet autoantibody-negative ketosis-prone diabetes].
Zhou M, Zhang Y, Zhang D, Lin J, Wang J, Zhou H, Zhou Z. | 06/4/2011 |
| A novel mutation of PAX4 is likely to be associated with diabetes in this Japanese family. | A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.
Jo W, Endo M, Ishizu K, Nakamura A, Tajima T. | 05/7/2011 |
| 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 | Lack of PAX4 mutations in 53 Czech MODYX families.
Dusatkova P, Vesela K, Pruhova S, Lebl J, Cinek O. | 05/7/2011 |
| PAX4 R192H mutation (rs2233580) was significantly associated with impaired glucose tolerance in childhood acute lymphoblastic leukemia. | Impaired glucose tolerance and insulin resistance in survivors of childhood acute lymphoblastic leukemia: prevalence and risk factors.
Surapolchai P, Hongeng S, Mahachoklertwattana P, Pakakasama S, Winaichatsak A, Wisanuyothin N, Pasomsub E, Mahasirimongkol S, Sirachainan N. | 08/9/2010 |
| The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population | [Association between A1168C polymorphism in PAX4 gene and type 1 diabetes in Han Chinese].
Zhang Y, Xiao XH, Wang H, Wang T, Sun Q, Yang GH, Fu Y, Yuan T, Zhang Q, Liu QY. | 05/31/2010 |
| 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. | No association of the IRS1 and PAX4 genes with type I diabetes.
Bergholdt R, Brorsson C, Boehm B, Morahan G, Pociot F, Type I Diabetes Genetics Consortium., Free PMC Article | 02/8/2010 |
| 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. | Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.
Park JW, Ji YI, Choi YH, Kang MY, Jung E, Cho SY, Cho HY, Kang BK, Joung YS, Kim DH, Park SC, Park J., Free PMC Article | 02/1/2010 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Nozawa Y, Yamada Y. | 09/20/2009 |