|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes.
|
18331410 |
2008 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to characterize glucokinase (GCK) alterations in maturity-onset diabetes of the young 2 (MODY2)-suspected patients and to investigate their clinical characteristics in relation to the parental origin of the mutation.
|
18248649 |
2008 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of GCK mutations in selected MODY patients was performed by single-strand conformation polymorphism and direct sequencing.
|
17186219 |
2007 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
|
8168652 |
1994 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucokinase gene have been identified recently in patients with maturity-onset diabetes of the young, a subtype of NIDDM.
|
8325443 |
1993 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These include the characterization of mutations in the glucokinase gene in maturity onset diabetes of the young, localization to chromosome 2 of a gene involved in familial colon cancer, and localization to chromosome 19 of a gene responsible for hemiplegic migraine.
|
7764464 |
1993 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
After adjustment for possible clinical and biochemical cofounders, IMT remained higher in HNF1A-MODY patients as compared with GCK-MODY patients (P=0.02) and controls (P=0.0003).
|
25501962 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the glucokinase (GCK) (MODY 2) and hepatocyte nuclear factor (HNF)1A/4A (MODY 3 and MODY 1) genes are the most common causes of MODY.
|
25581748 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
The application of strict recruitment criteria resulted in 88.9% incidence of GCK/MODY, which confirmed it as the commonest form of MODY in the Italian population.
|
28726111 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathophysiologically, there are at least two genetically different forms of diabetes linked to energy metabolism: the first example is one form of maturity-onset diabetes of the young (MODY2), an autosomal dominant disorder caused by point mutations of the glucokinase gene; the second example is several forms of mitochondrial diabetes caused by point and length mutations of the mitochondrial DNA (mtDNA) that encodes several subunits of the respiratory chain complexes.
|
8549853 |
1996 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Patients with clinically identified GCK-MODY and their first degree family members.
|
21978167 |
2012 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the hepatocyte nuclear factor (HNF)-1alpha and glucokinase (GCK) genes are the major causes of monogenic forms of Type II (non-insulin-dependent) diabetes mellitus (Maturity-Onset Diabetes of the Young subtypes, MODY).
|
11440371 |
2001 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among patients with neonatal diabetes (i.e. with onset within first 6 months of life) and patients with Maturity Onset Diabetes of the Young (MODY; an autosomal dominant form of diabetes), those carrying mutations in KCNJ11, ABCC8, HNF1A and HNF4A genes usually respond to oral therapy with sulphonylurea, while those bearing GCK mutations do not necessitate any treatment.
|
30086875 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
One hundred and nine probands were investigated, 45% with clinical suspicion of GCK -MODY and 55% with suspicion of HNF1A -MODY.
|
28170077 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the beta-cell genes encoding the glycolytic enzyme glucokinase (GCK) and the transcription factor hepatocyte nuclear factor (HNF)-1alpha are the most common causes of maturity-onset diabetes of the young (MODY).
|
11272165 |
2001 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'.
|
18297260 |
2008 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
|
12442280 |
2002 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating glucokinase mutations cause the autosomal dominantly inherited MODY2 subtype of maturity-onset diabetes of the young.
|
26208450 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
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 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MODY is both clinically and genetically heterogeneous, with six different genes identified to date; glucokinase (GCK), hepatocyte nuclear factor-1 alpha (HNF1A, or TCF1), hepatocyte nuclear factor-4 alpha (HNF4A), insulin promoter factor-1 (IPF1 or PDX1), hepatocyte nuclear factor-1 beta (HNF1B or TCF2), and neurogenic differentiation 1 (NEUROD1).
|
16917892 |
2006 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.
|
12627330 |
2003 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the GCK gene cause maturity-onset diabetes of the young 2 (MODY-2), a disease that is characterized by an early-onset and persistent hyperglycemia.
|
31720743 |
2019 |