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NCBI Gene PubMed Count 52
PubMed Score 137.65
PubTator Score 91.10

Knowledge Summary

Patent

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Gene RIF (44)

PMID Text
25483960 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.
25151965 PAX4-miR-144/451-ADAMs axis regulates human epithelial cancer metastasis
24752311 The PAX4 variant rs6467136 was associated with the therapeutic effect of rosiglitazone in Chinese T2DM patients.
24468700 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.
24013263 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.
22521316 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.
21263211 A novel mutation of PAX4 is likely to be associated with diabetes in this Japanese family.
21059099 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
20485196 PAX4 R192H mutation (rs2233580) was significantly associated with impaired glucose tolerance in childhood acute lymphoblastic leukemia.
20485196 Observational study of gene-disease association. (HuGE Navigator)
20360641 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.
20360641 Observational study of gene-disease association. (HuGE Navigator)
19956100 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.
19641380 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.
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19228875 Observational study of gene-disease association. (HuGE Navigator)
19056482 Observational study of gene-disease association. (HuGE Navigator)
18949370 PAX4 has the potential to function as a tumor suppressor in human melanoma.
18617287 Observational study of gene-disease association. (HuGE Navigator)
18335054 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
17989064 pax4 gene expression is epigenetically regulated and induced by physiological stimuli through the concerted action of multiple signalling pathways.
17717051 Pax4 protein transduction could be a safe and valuable strategy for protecting islet cell growth in culture from apoptosis and promoting islet cell differentiation.
17633464 The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population
17633464 Observational study of gene-disease association. (HuGE Navigator)
17426099 Observational study of gene-disease association. (HuGE Navigator)
17426099 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
16911636 Observational study of gene-disease association. (HuGE Navigator)
16701883 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.
16546275 activin A enhances PAX4 expression by enhanced transactivation of E47/E12 proteins and might result in a cumulative transactivation of the promoter
16423628 Observational study of gene-disease association. (HuGE Navigator)
16423628 The Arg121Trp variant in the PAX4 gene is associated with beta cell dysfunction in Japanese subjects with type 2 diabetes. mellitus.
16123375 Observational study of gene-disease association. (HuGE Navigator)
16123375 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.
15838687 A predisposition marker for susceptibility for type 1 diabetes.
15834548 Observational study of gene-disease association. (HuGE Navigator)
15834548 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.
15650323 Pax4 is an essential regulator of pancreatic beta-cell development [review]
15596543 The mechanism by which the beta-cell transcription factor Pax4 influences cell function/mass was studied in human islets of Langerhans.
15509590 Observational study of gene-disease association. (HuGE Navigator)
15161765 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.
12829700 The expression of this gene is regulated by REST protein.
12604352 The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans.
12200761 Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factor Pax4.
11723072 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPK      1 - 70
GIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCT     71 - 140
RLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLP    141 - 210
EDTVRVWFSNRRAKWRRQEKLKWEMQLPGASQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQ    211 - 280
LCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP    281 - 350
//

Text Mined References (53)

PMID Year Title
25483960 2014 Overexpression of PAX4 reduces glucagon expression in differentiating hESCs.
25151965 2015 Transcriptional control of PAX4-regulated miR-144/451 modulates metastasis by suppressing ADAMs expression.
24752311 2014 Association of PAX4 genetic variants with oral antidiabetic drugs efficacy in Chinese type 2 diabetes patients.
24468700 2014 Overexpression of gastric leptin precedes adipocyte leptin during high-fat diet and is linked to 5HT-containing enterochromaffin cells.
24013263 2013 Both PAX4 and MAFA are expressed in a substantial proportion of normal human pancreatic alpha cells and deregulated in patients with type 2 diabetes.
23532257 2013 Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.
22521316 Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes.
22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
21263211 2011 A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.
21059099 2010 Lack of PAX4 mutations in 53 Czech MODYX families.
20485196 2010 Impaired glucose tolerance and insulin resistance in survivors of childhood acute lymphoblastic leukemia: prevalence and risk factors.
20360641 2010 [PAX4 gene polymorphism and islet autoantibody-negative ketosis-prone diabetes].
19956100 2009 No association of the IRS1 and PAX4 genes with type I diabetes.
19641380 2009 Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19228875 2009 A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.
19056482 2009 Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
18949370 2008 PAX4 has the potential to function as a tumor suppressor in human melanoma.
18617287 2008 The association of the PAX4 gene with type 1 diabetes in Han Chinese.
18335054 2008 PAX4 enhances beta-cell differentiation of human embryonic stem cells.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17989064 2008 The diabetes-linked transcription factor Pax4 is expressed in human pancreatic islets and is activated by mitogens and GLP-1.
17717051 2007 Pax4 paired domain mediates direct protein transduction into mammalian cells.
17633464 2007 [Association between A1168C polymorphism in PAX4 gene and type 1 diabetes in Han Chinese].
17426099 2007 PAX4 mutations in Thais with maturity onset diabetes of the young.
16911636 2006 The PAX4 gene variant A1168C is not associated with early onset Type 1 diabetes in a UK population.
16701883 2006 Aberrant DNA demethylation in promoter region and aberrant expression of mRNA of PAX4 gene in hematologic malignancies.
16546275 Activin A-induced expression of PAX4 in AR42J-B13 cells involves the increase in transactivation of E47/E12.
16423628 2006 The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus.
16123375 2005 Lack of association of PAX4 gene with type 1 diabetes in the Finnish and Hungarian populations.
15838687 2005 Beta cell regeneration meets autoimmunity: PAX4 variants in type 1 diabetes.
15834548 2005 Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.
15650323 2004 The gene Pax4 is an essential regulator of pancreatic beta-cell development.
15596543 2004 The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.
15509590 2004 PAX4 gene variations predispose to ketosis-prone diabetes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15161765 2004 Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.
12853948 2003 The DNA sequence of human chromosome 7.
12829700 2003 Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12604352 2003 PAX4 mutation (R121W) as a prodiabetic variant in Okinawans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12200761 2002 Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4.
11723072 2001 A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.
11263967 2001 Expression of dominant negative form of PAX4 in human insulinoma.
10967107 2000 Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter.
9753306 1998 Isolation and characterization of the human PAX4 gene.
9598721 1998 Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.
9480859 1998 Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue.
9439631 1998 Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4.
8431641 1993 Mapping of the human homologs of the murine paired-box-containing genes.
8287686 1994 Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization.
7981748 1993 Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.