|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
"MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?"
|
11079754 |
2000 |
|
Hyperglycemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Hyperglycemia markedly upregulated the expression of glycolytic enzymes (glucokinase and 6-phosphofructo-1-kinase, PFK1) 5 h following glucose administration, while at 24 h posttreatment, it increased isocitrate dehydrogenase (IDH) activity, a key enzyme of the tricarboxylic acid cycle, and the expression of lipogenic factors (PGC1β, Lpin1, and SREBP1).
|
30649892 |
2019 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50% of subjects have overt diabetes) and is evident during the early years of life.
|
9049484 |
1997 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
MODY 2 is the most benign form of diabetes as the threshold for glucose sensing is elevated resulting in mild, regulated hyperglycemia.
|
16059790 |
2005 |
|
Hyperglycemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Glucokinase mutations in young children with hyperglycemia.
|
16444761 |
2006 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Glucokinase mutations in young children with hyperglycemia.
|
16444761 |
2006 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia.
|
18297260 |
2008 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GCK mutations are the prevailing cause of MODY (63.4%) when the index case is recruited in Italian children with incidental hyperglycemia.
|
19564454 |
2009 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment.
|
23295292 |
2012 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
MODY 2 is characterised by early onset: it usually appears before 25 years of age and presents as a mild form of hyperglycaemia.
|
24578721 |
2014 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Glucokinase (GCK) mutations cause a monogenic form of hyperglycaemia (GCK-MODY) characterised by fasting hyperglycaemia with low postprandial glucose excursions and a marginally elevated HbA1c.
|
25344793 |
2014 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
GCK-MODY patients are typically characterized by a moderate fasting hyperglycemia; however, little is known about atherosclerosis and intermediate-related phenotypes in these subjects.
|
25501962 |
2015 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GCK mutations cause a mild, asymptomatic, and stable fasting hyperglycemia usually requiring no specific treatment.
|
25581748 |
2015 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy.
|
27106716 |
2016 |
|
Hyperglycemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Glucokinase is inhibited in the postabsorptive state by sequestration in the nucleus bound to GKRP, and it is activated postprandially by portal hyperglycemia and fructose through dissociation from GKRP, translocation to the cytoplasm, and binding to PFK2/FBP2.
|
27146014 |
2016 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
GCK-MODY is characterized by mild hyperglycemia.
|
30535721 |
2019 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whites.
|
16186409 |
2005 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A 7-year-old girl was referred to our Unit for incidental hyperglycemia and family history of MODY2 and type 2 diabetes.
|
21688019 |
2012 |
|
Hyperglycemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
|
10753050 |
2000 |
|
Hyperglycemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
|
9736233 |
1998 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
|
23433541 |
2013 |
|
Hyperglycemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Adenovirus-mediated overexpression of Tcfe3 ameliorates hyperglycaemia in a mouse model of diabetes by upregulating glucokinase in the liver.
|
23269357 |
2013 |
|
Hyperglycemia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.
|
16602010 |
2006 |
|
Hyperglycemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
At diagnosis of pediatric diabetes, absence of all islet autoantibodies and modest hyperglycemia (HbA<sub>1c</sub> <7.5% [58 mmol/mol]) should result in testing for GCK, HNF1A, and HNF4A MODY.
|
31704690 |
2020 |