|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe two siblings with HNF1A-MODY (MODY3) due to a novel germline variant p.(His126Asp) which segregates with diabetes in the family.
|
31844173 |
2020 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
We herein report a case of HNF1A-MODY characterized by an early onset of diabetes.
|
31098941 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
GCK-MODY without drug management and hepatocyte nuclear factor-1 alpha (HNF4A) or HNF1A-MODY with sulfonylurea therapy obtained good glucose controlling.
|
31216263 |
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 |
GeneticVariation
|
disease |
BEFREE |
Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young.
|
30293189 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
We previously reported that plasma levels of antennary fucosylated <i>N</i>-glycans and high-sensitivity C-reactive protein (hs-CRP) are reduced in individuals with HNF1A-MODY.
|
30455330 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
In HNF4A-MODY and HNF1A-MODY patients, normal or even increased insulin sensitivity together with glucose-independent mechanism of action of the first-line therapy - sulphonylurea derivatives - often leads to hypoglycemia, even at the much lower dose used in type 2 diabetes.
|
31682881 |
2019 |
|
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 |
This is the first study to investigate the association between HNF1A-gene single-nucleotide polymorphisms (SNPs) and having early-onset, MODY-like diabetes mellitus in the Turkish population.
|
31109344 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
HNF1A-MODY should be considered in (non-)diabetic (male) patients with H-HCA.
|
31483937 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
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 |
Biomarker
|
disease |
BEFREE |
High-sensitivity C-reactive protein (hs-CRP) has shown promise as a biomarker to differentiate hepatic nuclear factor 1 alpha (<i>HNF1A</i>)-MODY from type 2 diabetes.
|
30181854 |
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 |
BEFREE |
Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells.
|
29597128 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diagnosis of MODY is mainly relying on the sequential screening of the three marker genes like hepatocyte nuclear factor 1 alpha (HNF1α), hepatocyte nuclear factor 4 alpha (HNF4α), and glucokinase (GCK).
|
29867778 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer.
|
29107759 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report a robust genetic modifier of HNF1A-MODY age at diagnosis that further illustrates the strong effect of genetic variation within <i>HNF1A</i> upon diabetes phenotype.
|
29895593 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations.
|
29222740 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%).
|
29439679 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Maturity onset diabetes of the young due to <i>HNF1A</i> mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults.
|
29666556 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A).
|
28012402 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous hepatocyte nuclear factor-1-α gene (<italic>HNF1A</italic>) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations.
|
28766492 |
2017 |