Property Summary

NCBI Gene PubMed Count 52
Grant Count 66
R01 Count 31
Funding $7,407,865.74
PubMed Score 137.65
PubTator Score 91.10

Knowledge Summary

Patent

No data available

Synonym

Accession O43316 O95161 Q6B0H0
Symbols KPD
MODY9

Gene

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)
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AA Sequence

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