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Paired box 4

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Insulin, PDX-1, Glucagon, Pax6, HAD
Papers on Pax4
Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.
Böber et al., In J Pediatr Endocrinol Metab, Dec 2015
Molecular analyses of GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, and BLK genes were performed on genomic DNA by using next-generation sequencing.
PAX4 Gene Transfer Induces α-to-β Cell Phenotypic Conversion and Confers Therapeutic Benefits for Diabetes Treatment.
Wu et al., New Orleans, United States. In Mol Ther, Nov 2015
UNASSIGNED: The transcription factor Pax4 plays a critical role in the determination of α- versus β-cell lineage during endocrine pancreas development.
Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9.
Yenchitsomanus et al., Bangkok, Thailand. In Acta Diabetol, Jun 2015
AIMS: Paired box 4 (PAX4) mutations cause maturity-onset diabetes of the young, type 9 (MODY9).
Pharmacogenomics of glinides.
Jia et al., Shanghai, China. In Pharmacogenomics, 2015
In addition, Type 2 diabetes mellitus susceptibility genes, such as KCNQ1, PAX4 and BETA2, also influence the efficacy of glinides.
Human placenta - stem cell source for obtaining pancreatic progenitors.
Mihu et al., Cluj-Napoca / Kolozsvár, Romania. In Rom J Morphol Embryol, 2014
RESULTS: Isolated cells from the placenta membrane induced for pancreatic differentiation expressed transcription factors, which are characteristic for pancreatic progenitors (Pdx1 and PAX4).
Mapping Mammalian Cell-type-specific Transcriptional Regulatory Networks Using KD-CAGE and ChIP-seq Data in the TC-YIK Cell Line.
Forrest et al., Yokohama, Japan. In Front Genet, 2014
In the core TRN (i.e., TF-TF only), NEUROD1 directly transcriptionally activates the pancreatic TFs HSF4, INSM1, MLXIPL, MYT1, NKX6-3, ONECUT2, PAX4, PROX1, RFX6, ST18, DACH1, and SHOX2, while LMX1A directly transcriptionally activates DACH1, SHOX2, PAX6, and PDX1.
PAX4 Defines an Expandable β-Cell Subpopulation in the Adult Pancreatic Islet.
Gauthier et al., Sevilla, Spain. In Sci Rep, 2014
PAX4 is a key regulator of pancreatic islet development whilst in adult acute overexpression protects β-cells against stress-induced apoptosis and stimulates proliferation.
Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China.
Narisu et al., Tongliao, China. In J Diabetes Res, 2014
We replicated T2D association of 11 SNPs, namely, rs7578326 (IRS1), rs1531343 (HMGA2), rs8042680 (PRC1), rs7578597 (THADA), rs1333051 (CDKN2), rs6723108 (TMEM163), rs163182 and rs2237897 (KCNQ1), rs1387153 (MTNR1B), rs243021 (BCL11A), and rs10229583 (PAX4) in our sample.
The Role of ARX in Human Pancreatic Endocrine Specification.
Kieffer et al., Vancouver, Canada. In Plos One, 2014
Differentiated ARX knockout cells upregulated PAX4, NKX2.2, ISL1, HHEX, PCSK1, PCSK2 expression while downregulating PAX6 and IRX2.
Pancreatic gene variants potentially associated with dipeptidyl peptidase-4 inhibitor treatment response in Type 2 diabetes.
Mustafa et al., Kuala Lumpur, Malaysia. In Pharmacogenomics, 2014
In the adult pancreas, the expression of the genes PAX4, KCNQ1, TCF7L2, KCNJ11, ABCC8, MTNR1B and WFS1 are mainly restricted to β cells to maintain glucose homeostasis.
The pharmacogenetics of type 2 diabetes: a systematic review.
Clark et al., Nice, France. In Diabetes Care, 2013
Significant medication-gene interactions for glycemic outcomes included 1) metformin and the SLC22A1, SLC22A2, SLC47A1, PRKAB2, PRKAA2, PRKAA1, and STK11 loci; 2) sulfonylureas and the CYP2C9 and TCF7L2 loci; 3) repaglinide and the KCNJ11, SLC30A8, NEUROD1/BETA2, UCP2, and PAX4 loci; 4) pioglitazone and the PPARG2 and PTPRD loci; 5) rosiglitazone and the KCNQ1 and RBP4 loci; and 5) acarbose and the PPARA, HNF4A, LIPC, and PPARGC1A loci.
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
Seielstad et al., South Korea. In Nat Genet, 2012
The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3.
Streptozotocin-induced expression of Ngn3 and Pax4 in neonatal rat pancreatic α-cells.
De et al., Nanjing, China. In World J Gastroenterol, 2011
Data show that Ngn3 and Pax4, a transcription factor that lies downstream of Ngn3 and plays an important role in beta-cell differentiation, were expressed in the alpha-cells of STZ-treated rats.
In vivo conditional Pax4 overexpression in mature islet β-cells prevents stress-induced hyperglycemia in mice.
Gauthier et al., Genève, Switzerland. In Diabetes, 2011
Pax4 protects adult islets from stress-induced apoptosis by suppressing selective nuclear factor-kappaB target genes while increasing Bcl-2 levels.
Lack of PAX4 mutations in 53 Czech MODYX families.
Cinek et al., In Diabet Med, 2010
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
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.
Tajima et al., Sapporo, Japan. In Tohoku J Exp Med, 2010
A novel mutation of PAX4 is likely to be associated with diabetes in this Japanese family.
Impaired glucose tolerance and insulin resistance in survivors of childhood acute lymphoblastic leukemia: prevalence and risk factors.
Sirachainan et al., Bangkok, Thailand. In J Pediatr Hematol Oncol, 2010
PAX4 R192H mutation (rs2233580) was significantly associated with impaired glucose tolerance in childhood acute lymphoblastic leukemia.
Genetic epidemiology of type 1 diabetes.
Paterson, Toronto, Canada. In Curr Diab Rep, 2006
Additionally, confirmed evidence for association of specific markers at two loci (PTPN22, OAS1) as well as failure to replicate three others (IL12B, SUMO4, PAX4) is discussed.
Transdifferentiation of stem cells in pancreatic cells: state of the art.
Gasbarrini et al., Roma, Italy. In Transplant Proc, 2005
Several studies have demonstrated that by manipulating culture conditions and using growth and transcription factors of beta-cell lineage (in particular pdx-1 and pax4), embryonic stem cells can differentiate in vitro after formation of embryoid bodies.
Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
Busslinger et al., Vienna, Austria. In Nat Genet, 1993
We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a polymerase chain reaction fragment for PAX-4.
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