INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.100 AlteredExpression disease BEFREE In vitro studies have demonstrated that BVR-A is a substrate of the insulin receptor and regulates IRS1 by avoiding its aberrant activation, and in animal model of obesity the loss of hepatic BVR-A has been associated with glucose/insulin alterations and fatty liver disease.However, no studies exist in humans. 30826467 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 AlteredExpression disease BEFREE Beyond these physiological roles of insulin, a shared feature between the periphery and CNS is that decreases in insulin receptor activity and signaling (i.e. insulin resistance) contributes to the pathological consequences of type 2 diabetes (T2DM) and obesity. 31028829 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE We addressed the role of insulin receptor isoforms in glucose and lipid metabolism <i>in vivo</i> We expressed IRA or IRB specifically in the liver by using adeno-associated viruses (AAVs) in a mouse model of diet-induced insulin resistance and obesity. 30642871 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE To verify the impact of InsR deletion in LepR cells in obesity, we generated ob/ ob InsR<sup>fl</sup>, ob/ ob LR<sup>cre</sup>, and ob/ ob LR<sup>ΔInsR</sup> mice. 30376348 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 AlteredExpression disease BEFREE The insulin receptor (IR) mediates both metabolic and mitogenic effects especially when overexpressed or in clinical conditions with compensatory hyperinsulinemia, due to the metabolic pathway resistance, as obesity diabetes. 30453495 2018
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE To directly study the role of insulin signaling in the kidney, we generated inducible renal tubule-specific insulin receptor-KO mice and used high-fat feeding and mineralocorticoids to model obesity and insulin resistance. 30135311 2018
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE This review discussed specifically the role of IR isoforms as well as IGF-IR in diabetes and its associated complications as obesity and atherosclerosis. 29201918 2017
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE Together, these data demonstrate the novel role of placental InsRs in sex-specific neurodevelopment and reveal a potential mechanism for neurodevelopmental disorder risk in pregnancies complicated by maternal metabolic disorders, including diabetes and obesity. 28168960 2017
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE We conclude that altered ganglioside expression in adipose tissue results in diminished IR sensitivity and late-onset obesity. 27683310 2017
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE The purpose of this study was to introduce the foreskin as a novel model to examine developmental programming in human neonates, particularly in regard to adipogenesis and insulin receptor signaling, major contributors to age-associated diseases such as obesity and diabetes. 28034763 2017
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE Differential hepatic distribution of insulin receptor substrates causes selective insulin resistance in diabetes and obesity. 27708333 2016
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE According to our preliminary findings, genetic variation in the INSR and HNF1A genes may differentially affect weight loss in obese individuals treated with topiramate and genes related to insulin action are implicated in modulating topiramate response. 26524290 2016
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE SORLA facilitates insulin receptor signaling in adipocytes and exacerbates obesity. 27322061 2016
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE Defective hepatic insulin receptor (IR) signalling is a pathogenic manifestation of metabolic disorders including obesity and diabetes. 26387534 2015
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE Obesity-induced miR-15b is linked causally to the development of insulin resistance through the repression of the insulin receptor in hepatocytes. 26179126 2015
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE Animal studies have suggested that SH2B1 is a physiological enhancer of the insulin receptor and humans with rare deletions or mutations at SH2B1 are obese with a disproportionately high insulin resistance. 24103803 2013
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE The deletion encompasses several genes, including resistin and the first part of the insulin receptor, genes that are relevant for obesity. 23637016 2013
CUI: C0028754
Disease: Obesity
Obesity
0.100 AlteredExpression disease BEFREE Furthermore, IR(Deltamyel)-mice exhibit decreased concentrations of circulating tumor necrosis factor (TNF) alpha and thus reduced c-Jun N-terminal kinase (JNK) activity in skeletal muscle upon high fat feeding, reflecting a dramatic reduction of the chronic and systemic low-grade inflammatory state associated with obesity. 20463885 2010
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE The involvement of insulin receptor genotypes in pre- and co-obese acanthosis Nigricans children and adolescent. 20857837 2010
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE Defects in insulin receptor function have been associated with insulin resistant states such as obesity and type 2 diabetes mellitus. 16127220 2005
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE We report here that: 1) blood glucose levels of randomly fed and 6 h fasted double mutant (Kir6.2KO/hIR(KM)TG) mice were comparable with those of wild type mice; 2) in intraperitoneal glucose tolerance test (ipGTT), Kir6.2KO/hIR(KM)TG mice had an impaired glucose tolerance; and 3) during ipGTT, insulin secretion was not induced in either Kir6.2KO/hIR(KM)TG or Kir6.2KO mice, while the hIR(KM)TG mice showed a more prolonged insulin secretion than did wild type mice; 4) hyperinsulinemic euglycemic clamp test revealed that Kir6.2KO, Kir6.2KO/hIR(KM)TG and hIR(KM)TG mice, showed decreased whole-body glucose disposal compared with wild type mice; 5) Kir6.2KO, but not Kir6.2KO/hIR(KM)TG mice had some obesity and hyperleptinemia compared with wild type mice. 15118262 2004
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE We conclude that there is a physiologically relevant defect in insulin receptor signaling in PCOS that is independent of obesity and type 2 diabetes mellitus. 11440917 2001
CUI: C0028754
Disease: Obesity
Obesity
0.100 AlteredExpression disease BEFREE Differential regulation of insulin receptor substrates-1 and -2 (IRS-1 and IRS-2) and phosphatidylinositol 3-kinase isoforms in liver and muscle of the obese diabetic (ob/ob) mouse. 9399964 1997
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease BEFREE Inhibition of insulin receptor signaling by TNF: potential role in obesity and non-insulin-dependent diabetes mellitus. 8899294 1996
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE Two models of insulin resistance were also evaluated: (a) transgenic mice with a severe insulin receptor defect and (b) gold thioglucose (GTG) mice (obesity with minimal insulin receptor dysfunction). 8530392 1995