|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Specific genetic defects have been identified for rate monogenic forms of NIDDM: maturity-onset diabetes of the young, or MODY (which is due to glucokinase mutations in about 40% of families), syndromes of extreme insulin resistance (which often involve the insulin receptor), and diabetes-deafness syndromes (with defects in mitochondrial genes).
|
8712800 |
1996 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A high proportion of the female patients who are members of maturity onset diabetes of the young (MODY) pedigrees, and whose diabetes mellitus is due to a glucokinase mutation, originally presented with gestational diabetes.
|
8932999 |
1996 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
One form of maturity-onset diabetes of the young, MODY3, is characterized by a severe insulin secretory defect, compared with MODY2, a glucokinase-deficient diabetes.
|
9313763 |
1997 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Rigorous family studies have identified monogenic subtypes representing 10-15% of all NIDDM: MODY2 related to glucokinase gene mutations, MODY1 and MODY3 secondary to mutation of hepatic nuclear factors, and diabetes resulting from deletion or mutation of mitochondrial DNA.
|
9105779 |
1997 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In contrast to the glucokinase and HNF-1alpha genes, mutations in the HNF-4alpha gene are a relatively uncommon cause of MODY, and our understanding of the MODY1 form of diabetes is based on studies of only a single family, the R-W pedigree.
|
9294105 |
1997 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes.
|
9049484 |
1997 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus. Diabetes Incidence Study in Sweden (DISS).
|
9267992 |
1997 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Moreover, screening the glucokinase gene for mutations in other families with clinical features similar to those of the N2 family could lead to improved treatment for patients with this form of diabetes.
|
9736233 |
1998 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the absence of a crystal structure for glucokinase, our models help rationalize the potential effects of mutations in diabetes and hypoglycemia, and the models may also facilitate the discovery of pharmacological glucokinase activators and inhibitors.
|
10480597 |
1999 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Genetic factors such as mutations in the HNF-1alpha and glucokinase genes may be important in the development of diabetes in Chinese people, especially when the disease is of early onset.
|
10588527 |
1999 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Among 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset ( </= 40 years) diabetes: MODY3 (5.2 %) more than MODY2 (3.5 %) more than MIDD (2.6 %) more than MODY1 (1.7 %).
|
10447526 |
1999 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the glucokinase gene cause a rare form of diabetes called maturity-onset diabetes of the young (MODY).
|
10347805 |
1999 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The family members of the patients affected with GCK mutation were also examined.Two of the 58 PTDM patients (3.4%) were found to have GCK mutations.
|
11106831 |
2000 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Unusual causes of diabetes have been identified, including autosomal dominant, single gene forms due to mutations of glucokinase, the hepatocyte nuclear factors, and insulin promoter factor 1.
|
11467342 |
2000 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families.
|
10868949 |
2000 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
It should be emphasized that MODY comprises two discrete clinical syndromes: glucokinase diabetes and transcription factor diabetes, the latter of which results from mutations in the genes encoding hepatocyte nuclear factor (HNF)-1alpha, HNF-1beta, HNF-4alpha and insulin promoter factor-1.
|
11202217 |
2000 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Recently, gut K cells have been shown to express glucokinase, the glucose sensor of pancreatic beta cells, and transgenic mice expressing human insulin under the control of a K cell-specific promoter are resistant to diabetes development induced by the beta-cell toxin streptozotocin.
|
11295563 |
2001 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Here, we explored the adenoviral vector-mediated overexpression of GK in a diet-induced murine model of type 2 diabetes as a treatment for diabetes.
|
11574410 |
2001 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Biochemical genetic studies have characterized many activating and inactivating GK mutants that have been discovered in patients with hyperinsulinemic hypoglycemia or diabetes, all inherited as autosomal dominant traits.
|
12475782 |
2002 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
|
11916951 |
2002 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
This shows the importance of improving hepatic function in diabetes and must revive interest in enhancement of glucokinase activity as a therapeutic strategy for the treatment of diabetes.
|
12242462 |
2002 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The identification of a mutation in glucokinase gene and transcription factor genes in patients with early-onset diabetes confirms the diagnosis of MODY and has important implications for clinical management.
|
14580233 |
2003 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Unlike in MODY2, which is a nonprogressive form of diabetes, mitochondrial diabetes does show a pronounced age-dependent deterioration of pancreatic function indicating involvement of additional processes.
|
14749274 |
2004 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
|
16026363 |
2005 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
We describe the impact of the genetic analysis for MODY 2 on diabetes management and treatment costs in a five-year-old girl.
|
16059790 |
2005 |