Hyperinsulinism
|
0.100 |
Biomarker
|
disease |
BEFREE |
We assessed the contribution of hyperglycemia by comparing insulin sensitivity in control and GCK-MODY and the contribution of hyperinsulinemia by comparing GCK-MODY and type 1 diabetes.
|
31092478 |
2019 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four cases of HI with mutations in GCK were identified.
|
28247534 |
2017 |
Hyperinsulinism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Fructose fed rats had: hypertriglyceridemia, hyperinsulinemia and high liver glucokinase activity (mainly located in the cytosolic fraction) together with higher glucokinase and 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase mRNA and protein concentrations compared to control rats.
|
26524624 |
2015 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.
|
24890200 |
2014 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also demonstrate that small-molecule diabetes therapeutic agents and hyperinsulinemia-associated GCK mutations share a strikingly similar activation mechanism, characterized by a population shift toward a more narrow, well-ordered ensemble resembling the glucose-bound conformation.
|
23271955 |
2012 |
Hyperinsulinism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
CA-hHSF1 expression increased insulin secretion 1.27-fold compared with the overexpression of wild-type hHSF1 in MIN6 cells via induction of HSP90 expression and subsequent activation of glucokinase.
|
20817212 |
2011 |
Hyperinsulinism
|
0.100 |
Biomarker
|
disease |
BEFREE |
There was no single consistent diagnostic criterion found for our patient and glucokinase hyperinsulinism individuals in general.
|
19053014 |
2009 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of clinical phenotypes corresponding to marked differences in enzyme kinetics.
|
19336674 |
2009 |
Hyperinsulinism
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
|
15277402 |
2004 |
Hyperinsulinism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Others cases of CHI are due to rare mutations in the beta-cell enzymes glucokinase (only one family described) and glutamate dehydrogenase in hyperammonaemia-associated hyperinsulinism.
|
12566718 |
2003 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded.
|
12400064 |
2002 |
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compared to NIDDM with 1.3 kb allele/Pvu I digestion of glucokinase, 10% of NIDDM did not demonstrate 1.3 kb allele and these patients were characterized by increased insulin secretion.
|
7913622 |
1994 |