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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE In type 2 diabetic mice, taurine decreases blood glucose through increased insulin secretion and insulin receptor sensitization. 29710660 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE The increased insulin sensitivity responsiveness in Grb10-silenced myotubes was associated with higher abundance of the insulin receptor. 31794259 2020
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE The expression of insulin receptors was low, but insulin increased tyrosine phosphorylation of both the insulin receptor and insulin receptor substrate (IRS)-1 and activated protein kinase B (PKB). 19581418 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. 15868462 2005
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE IL-1β and insulin increased the uptake of glucose into macrophages, and insulin reinforced a pro-inflammatory pattern via the insulin receptor, glucose metabolism, production of reactive oxygen species, and secretion of IL-1β mediated by the NLRP3 inflammasome. 28092375 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome. 7836517 1994
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). 23824322 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Since we have shown that the ratio of the insulin receptor splice variants is modulated by insulin in vitro and is related to insulin levels in vivo, we hypothesized that the relative ratios of the alternatively spliced PTP1B mRNA might also vary in humans in proportion to the degree of hyperinsulinemia. 10066387 1999
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE To determine whether obesity-associated hyperinsulinemia promotes bone growth by activating the insulin receptor in the growth plate, we generated <sup>TamCart</sup>IR<sup>flox/flox</sup> mice. 30798001 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Decreased IR expression in high‑stage RCC tumors with poor prognosis may be the result of downregulation induced by the host's hyperinsulinemia. 28393204 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE This is a highly significant observation because it is the first to show that systemic hyperinsulinemia can suppress autophagy in IR-deficient hearts through IGF-1R signaling. 31088290 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Circulating IR-A and IR-B bioactivities are associated with insulin resistance, high insulin requirements, and poor glycemic control in T1D. 28938465 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Both acute and chronic exposure of MC-LR, even at very low concentrations (1 μg/L), impaired the insulin receptor signalling pathway and induced hyperinsulinemia and insulin resistance in mice. 29777831 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE We characterised expression of IR-related molecules, IRS-1 phosphorylation and downstream signalling in a panel of 5 colon cancer cell lines at different insulin exposures: 15 min (100 nM), approximating to acute stimulation; 48 h (100 nM), used to demonstrate adaptive changes; and 12 weeks (20 nM; chronic insulin exposure, CIE), approximating to chronic hyperinsulinaemia. 24068609 2014
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor. 17560154 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE In conclusion, the increased expression of the insulin receptor isoform with lower insulin binding affinity in patients with primary non-genetically determined hyperinsulinaemia supports a role for insulin in the regulation of alternative splicing of insulin receptor pre-mRNA and suggests that in NIDDM an altered receptor isoform distribution might be secondary to the ambient hyperinsulinaemia rather than representing a primary defect. 8635675 1996
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE Our findings provide the first direct evidence linking hyperinsulinemia to alterations in insulin receptor mRNA splicing, and suggest that alterations of insulin receptor mRNA splicing in muscle is an early molecular marker that may play an important role in NIDDM. 8083370 1994
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Using RT-PCR, we found that visfatin did not regulate IR expression and that an increased insulin release was also unlikely to be involved because insulin was unable to increase PGE(2) release. 22399297 2012
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease CTD_human We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Acute induction of insulin receptor knockout in adipocytes changed the substrate preference to fat before induction of a diabetic phenotype including hyperinsulinaemia and hyperglycaemia. 31309261 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE The combination of fasting hyperinsulinemia with acanthosis nigricans in a lean subject with hypoglycemia suggests severe insulin resistance and warrants INSR gene screening. 29411486 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease LHGDN Prolactin and insulin ultradian secretion and adipose tissue lipoprotein lipase expression in severely obese women after bariatric surgery. 18535540 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Taken together, these results suggest that the tyrosine kinase-deficient insulin receptor causes hyperinsulinemia but not diabetes in these homozygous transgenic mice. 9388499 1997
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Moreover, the reduction of macrophage Irs2 expression is mediated by hyperinsulinemia via the insulin receptor (IR). 30451856 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 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