|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest a relative prevalence of 3% of MODY1 (two different mutations in two families), 10% of MODY2 (seven in eight), and 36% of MODY3 (21 in 28) among Danish kindred clinically diagnosed as MODY.
|
15928245 |
2005 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
There are quantitative and qualitative differences in insulin secretory defects which differentiate subjects with MODY due to mutation in the gene on chromosome 20q from those with glucokinase mutations.
|
8894490 |
1996 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Making a diagnosis of monogenic diabetes is important as it can have a dramatic effect on the treatment a patient should receive: glucokinase MODY patients need no treatment; HNF1alpha MODY patients are very sensitive to low dose sulphonylureas; and patients with neonatal diabetes due to Kir6.2 mutations, despite being insulin dependent, can discontinue insulin and be well controlled on high dose sulphonylurea tablets.
|
16268330 |
2006 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The p.Leu77Arg but not p.Val101Met GCK mutation is therefore considered a pathogenic mutation associated with MODY.
|
27185633 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.
|
8591819 |
1995 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
hs-CRP was lower in HNF1A-MODY (median [IQR] 0.3 [0.1-0.6] mg/L) than type 2 diabetes (1.40 [0.60-3.45] mg/L; P < 0.001) and type 1 diabetes (1.10 [0.50-1.85] mg/L; P < 0.001), HNF4A-MODY (1.45 [0.46-2.88] mg/L; P < 0.001), GCK-MODY (0.60 [0.30-1.80] mg/L; P < 0.001), and HNF1B-MODY (0.60 [0.10-2.8] mg/L; P = 0.07). hs-CRP discriminated HNF1A-MODY from type 2 diabetes with hs-CRP <0.75 mg/L showing 79% sensitivity and 70% specificity (receiver operating characteristic area under the curve = 0.84).
|
21700917 |
2011 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Urinary metabolic profiling by Nuclear Magnetic Resonance (NMR) and ultra performance liquid chromatography hyphenated to Q-TOF mass spectrometry (UPLC-MS) was performed in a Discovery set of subjects with HNF1A-MODY (n = 14), GCK-MODY (n = 17), T2D (n = 14) and normoglycaemic controls (n = 34).
|
22859960 |
2012 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
In addition, no evidence for linkage to MODY2 (glucokinase-associated MODY) was observed with either study population.
|
9133559 |
1997 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
|
9049484 |
1997 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority of patients (27/33, 81.8%) had variants in MODY‑related genes: GCK (n=19), HNF1A (n=2), PAX4 (n=1), ABCC8 (n=1), KCNJ11 (n=1), GCK+HNF1A (n=1), GCK+BLK (n=1) and GCK+BLK+WFS1 (n=1).
|
31638168 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
|
22820548 |
2012 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucokinase gene cause a rare form of diabetes called maturity-onset diabetes of the young (MODY).
|
10347805 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene.
|
23843579 |
2014 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The study included 80 patients with HNF1A-MODY and 89 GCK gene mutation carriers.
|
30421137 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
|
22389783 |
2011 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada.
|
17079173 |
2007 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The level of 1,5-AG was lowest in type 1 diabetes and HNF1A MODY, 3.8 and 4.7 μg/ml, respectively, and highest (11.2 μg/ml) in GCK MODY.
|
30778899 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The metabolite profiling was confirmed by enzymatic assays and replicated in a cohort of 11 GCK-MODY patients.
|
23139355 |
2013 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.
|
27080136 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in four genes have been shown to cause MODY: glucokinase, hepatic nuclear factor 1 alpha (HNF1alpha), hepatic nuclear factor 4 alpha (HNF4alpha) and insulin promoter [corrected] factor 1 (IPF1).
|
9472859 |
1998 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth.
|
23771925 |
2013 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
The 14 responsible genes are reported to be MODY type 1~14, of which MODY 2 and 3 might be the most common forms.
|
29406598 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Virtual Screening and Prediction of Binding of Caprine CSN1S2 Protein Tryptic Peptides to Glucokinase.
|
29284910 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The biochemical design also suggests certain candidate diabetes genes related to fuel metabolism: low-activity and low-stability GK mutants that explain in part the maturity-onset diabetes of the young (MODY) phenotype in humans and mitochondrial DNA mutations of FoF1 ATPase components thought to cause late-onset diabetes in BHEcdb rats.
|
8549869 |
1996 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations in GCK cause maturity-onset diabetes of the young (MODY) subtype glucokinase (GCK), characterized by mild fasting hyperglycemia, which is present at birth but often only detected later in life during screening for other purposes.
|
19790256 |
2009 |