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 Biomarker disease BEFREE The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of PDX1 -related diabetes diagnosed after the first year of life. 28436541 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE This property of PDX-1 opens new strategies for the treatment of diabetes. 18360684 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE We found that MST1 is strongly activated in a diabetic beta cell and induces not only its death but also directly impairs insulin secretion through promoting proteasomal degradation of key beta cell transcription factor, pancreatic and duodenal homeobox 1 (PDX1), which is critical for insulin production.Pre-clinical studies in various animal models of diabetes have reported that MST1 deficiency remarkably restores normoglycaemia and beta cell function and prevents the development of diabetes. 27053234 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We demonstrate the significance of this alternative promoter in a large MODY family where a mutated IPF-1 binding site in the P2 promoter of the HNF-4alpha gene co-segregates with diabetes (LOD score 3.25). 11590126 2001
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Mutations in transcription factors that play a role in the development of the endocrine pancreas, such as insulin promoter factor-1 and NeuroD1/BETA2, have been associated with diabetes. 11246894 2001
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Mutations in pancreatic duodenal homeobox 1 (PDX-1) can cause a monogenic form of diabetes (maturity onset diabetes of the young 4) in humans, and silencing Pdx-1 in pancreatic β-cells of mice causes diabetes. 22570331 2012
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Several studies showed that stress can stimulate autophagy in β-cells: the number of autophagosomes is increased in different in vivo models for diabetes, such as db/db mice, mice fed high-fat diet, pdx-1 knockout mice, as well as in in vitro models of glucotoxicity and lipotoxicity. 21029295 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Taken together, PDX-1 and MafA play a crucial role in inducing surrogate beta-cells and could be a therapeutic target for diabetes. 17449132 2007
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Teucrium polium extract reverses symptoms of streptozotocin-induced diabetes in rats via rebalancing the Pdx1 and FoxO1 expressions. 28738518 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Interestingly, it also modulated the expression of peroxisome proliferator-activated receptor γ (PPARγ) and pancreatic and duodenal homeobox 1 (PDX-1).Our findings showed that <i>A. annulatum</i> and its bioactive compounds are capable of improving insulin secretion by pancreatic β-cells.This suggests that <i>A. annulatum</i> can be used as a therapeutic agent to treat diabetes. 31382473 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families. 10868949 2000
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE A positive effect of a β-adrenergic agonist on RAF-1 and PDX-1, reduction in β-cell apoptosis and improved insulin contents can help to understand the pathogenesis of diabetes and to develop novel approaches for the β-cell dysfunction in diabetes. 28261303 2017