|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia.
|
2687060 |
1989 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because the nature and location of the insertion did not suggest a role in insulin-receptor function, the association of this RFLP with NIDDM and hyperinsulinemia was reexamined in a small sample of Whites.
|
2566545 |
1989 |
|
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 |
|
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 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
These data suggest that the insulin receptor gene may contribute to insulin resistance in hypertensive patients with hyperinsulinemia.
|
7584931 |
1995 |
|
Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, we reported (Huang Z., Bodkin N.L., Ortmeyer H.K., Hansen B.C., Shuldiner A. R., 1994, J Clin Invest, 94:1289-1296) that an increase in the exon 11- (i.e. lacking exon 11) (type A) IR messenger RNA (mRNA) variant in muscle is associated with hyperinsulinemia, an early risk factor for noninsulin-dependent diabetes mellitus (NIDDM), in the spontaneously obese, diabetic rhesus monkey.
|
8636366 |
1996 |
|
Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that the INSR polymorphism is associated with hyperinsulinemia, but not with insulin resistance, in hypertension.
|
9240761 |
1996 |
|
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 |
|
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 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The PA tissue growth seen in such patients is likely to result from severe in vivo hyperinsulinemia activating intact mitogenic signaling pathways emanating from the insulin receptor.
|
9486982 |
1998 |
|
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 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Exposure to high insulin (100 nmol/l for 16 h) caused a significant (p<0.05-0.01) impairment of insulin receptor autophosphorylation, phosphatidyl-inositol-3 kinase activity and glycogen synthesis, but not of PC-1 protein content (114+/-3 vs 102+/-14 ng/mg protein) in HepG2 cells.
|
10707036 |
2000 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
CTD_human |
Loss of insulin signaling in hepatocytes leads to severe insulin resistance and progressive hepatic dysfunction.
|
10949030 |
2000 |
|
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 |
|
Hyperinsulinism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Decreased IGF-IR content was accompanied by a reduction of IGF-IR/IR receptor hybrids, and therefore, increased levels of IR/IR homodimers probably explain increased insulin-stimulated receptor autophosphorylation and Akt phosphorylation.
|
16569742 |
2006 |
|
Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Allelic variants of genes encoding components of the insulin pathway, including insulin (INS), insulin receptor (INSR), and insulin receptor substrate-1 and insulin receptor substrate-2 (IRS1 and IRS2) have been associated with hyperinsulinemia and insulin resistance and may, therefore, predict susceptibility to colorectal neoplasia.
|
17416760 |
2007 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recombinant human IGF-I alone or combined with its binding protein (IGFBP-3) provides an alternative therapy as IGF-I receptor shares structural and functional homology with the insulin receptor and recombinant human insulin-like growth factor I (rhIGF-I) therapy could improve glucose disposal by signalling through the IGF-I receptor, whilst reducing the adverse effects of high insulin concentrations.
|
17785698 |
2007 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, IGF1R down-regulation increased insulin binding consistent with the formation of an increased number of holo-IR on the cell surface.
|
17210722 |
2007 |
|
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 |
|
Hyperinsulinism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Interestingly 48 h of fasting, leading to a decreased plasmatic insulin, increased the number of IR in the OM.
|
18752648 |
2008 |
|
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 |
|
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 |
|
Hyperinsulinism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sequencing demonstrated INSR haploinsufficiency accounting for elevated insulin levels and dysglycemia.
|
19720790 |
2009 |