|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population.
|
31704690 |
2020 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we performed a functional analysis of 20 novel or rare intronic and synonymous glucokinase (GCK) gene variants identified by targeted NGS in 1,130 patients with maturity-onset diabetes of the young.
|
31529753 |
2020 |
|
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 |
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 |
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 |
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 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
A heterozygous whole-exon deletion spanning 4763 bp affecting the entire exon 1 of GCK was detected in two apparently unrelated patients with clinical features of MODY.
|
30912798 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.
|
30362177 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the genetic testing arm, patients with MODY received treatment changes (sulfonylureas for HNF1A- and HNF4A-MODY associated with a 1.0% reduction in HbA<sub>1c</sub>; no treatment for GCK-MODY).
|
31558549 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
After genetic analysis, diabetics (n = 46) with HNF1A, HNF1B, HNF4A, GCK gene mutations (diagnosed as MODY) and diabetics (n = 30) with HNF1B, HNF4A, GCK gene SNPs were excluded.
|
31109344 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Mutation of the GCK gene is the most common in MODY patients in China followed by PAX4.
|
31216263 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young.
|
30897270 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
They include two mutations in HNF1A and GCK that are the causative genes of the two most prevalent MODY subtypes described in the literature.
|
30656436 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY.
|
31595705 |
2019 |
|
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 |
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 |
GCK-MODY patients displayed increased and earlier glucagon responses during hypoglycemia compared with a group of glycemia-matched patients with type 2 diabetes.
|
30146176 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes.
|
30086370 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
In participants with GCK-MODY, treatment cessation was universally successful, with no change in HbA<sub>1c</sub> at follow-up.
|
30229274 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucokinase gene (GCK) are a pathogenetic cause of maturity-onset diabetes of the young.
|
28371533 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GCK and HNF1A genes are the most common cause of MODY among Caucasians.
|
29408271 |
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 |
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 |
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 |
Most MODY cases in Brazil are due to GCK mutations.
|
28012402 |
2017 |