PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 AlteredExpression disease BEFREE These findings indicate that GPR120 activation is protective against lipotoxicity-induced pancreatic β-cell dysfunction, via the mediation of PDX1 expression and inhibition of islet inflammation, and that GPR120 activation may serve as a preventative and therapeutic target for obesity and diabetes. 30523046 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Patients with HNF4alpha and IPF1 mutations show a similar clinical picture to HNF1alpha although diabetes may be diagnosed later. 9472859 1998
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Heterozygous mutations in the gene result in impaired glucose tolerance and symptoms of diabetes as seen in MODY4 and late-onset Type II (non-insulin-dependent) diabetes mellitus. 11692168 2001
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We found a novel mutation in the pancreatic and duodenal homeobox 1 gene (PDX1, IPF1) in the two patients, which segregated with diabetes in the homozygous state. 20009086 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We screened 264 unrelated subjects with type 2 diabetes diagnosed before 40 yr of age and a family history of diabetes for mutations in the minimal promoter and coding region of the IPF-1 gene (IPF1). 14764823 2004
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Whereas heterozygous mutations in islet-cell transcription factors such as IPF1/IDX-1/STF-1/PDX-1 and NEUROD1/BETA2 serve as a genetic cause of diabetes or glucose intolerance, we investigated the possibility of PAX6 gene mutations being a genetic factor common to aniridia and diabetes. 11756345 2002
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 AlteredExpression disease BEFREE These results indicated that the Pdx1 functioned as a key regulator for maintenance of beta-cell function, at least in part, through controlling c-Myc expression and the loss of its regulatory function may be an alternative mechanism for beta-cell neogenesis and apoptosis found in diabetes. 17317781 2007
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE An earlier French study identified InsCCG243 as a cause of autosomal dominant diabetes. 17003361 2006
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE These results establish Nix as a critical mediator of β cell apoptosis and programmed necrosis in Pdx1-deficient diabetes. 20978346 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Our results reveal mechanistic details of how common coding mutations in PDX1 impair human pancreatic endocrine lineage formation and β-cell function and contribute to the predisposition for diabetes. 30930126 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We carried out mutation screening of the IPF1 gene in 115 Scandinavian families with at least two members with onset of diabetes younger than 40 years. 11270685 2001
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE This circumstance suggests that the mechanism of diabetes in these individuals may be due not only to reduced gene dosage, but also to a dominant negative inhibition of transcription of the insulin gene and other beta cell-specific genes regulated by the mutant IPF-1. 9649577 1998
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE The identification of mutations in hepatocyte nuclear factors-1alpha, -4alpha, -1beta and insulin promoter factor-1 in maturity onset diabetes of the young (MODY) has highlighted the role that transcription factors may have in the development of diabetes. 10230653 1999
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The significance of the P2 promoter was shown by the identification of a mutation in the IPF-1 binding site of the alternative promoter which cosegregated with diabetes in a large MODY family. 12242469 2002
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. 27879214 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Targeting cyclophilin D and the mitochondrial permeability transition enhances beta-cell survival and prevents diabetes in Pdx1 deficiency. 20479245 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Mutations in the homeobox gene Ipf1/Pdx1 are linked to diabetes in both mouse and human. 11130726 2000
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Unusual causes of diabetes have been identified, including autosomal dominant, single gene forms due to mutations of glucokinase, the hepatocyte nuclear factors, and insulin promoter factor 1. 11467342 2000
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Impairment of interactions between PDX-1 and p300 in pancreatic beta-cells may limit insulin production and lead to the development of diabetes. 15001545 2004
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Adult rat liver cells transdifferentiated with lentiviral IPF1 vectors reverse diabetes in mice: an ex vivo gene therapy approach. 17131142 2007
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 AlteredExpression disease BEFREE Zinc deficiency was also associated with decreased expression of genes related to diabetes and pancreatic development in the embryo (Insa, Pax4, Pdx1). 28268202 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Elevated β-cell stress levels promote severe diabetes development in mice with MODY4. 31682591 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE It should be emphasized that MODY comprises two discrete clinical syndromes: glucokinase diabetes and transcription factor diabetes, the latter of which results from mutations in the genes encoding hepatocyte nuclear factor (HNF)-1alpha, HNF-1beta, HNF-4alpha and insulin promoter factor-1. 11202217 2000
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Here we examined these questions by testing the ability of hBMSCs genetically modified to transiently express vascular endothelial growth factor (VEGF) or pancreatic-duodenal homeobox 1 (PDX1) to reverse diabetes and whether these cells were differentiated into β-cells or mediated recovery through alternative mechanisms. 22879915 2012
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Our data provide stage-specific target genes of PDX1 during in vitro differentiation of stem cells into pancreatic progenitors that could be useful to identify pathways and molecular targets that predispose for diabetes. 29396371 2018