|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
A panel of seven MODY genes was designed and employed to screen 50 patients fulfilling the MODY diagnostic criteria.
|
31604004 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The group of probands consisted of 64 GCK-, 37 HNF1A- and 3 HNF4A-MODY patients and 51 NGS-negative subjects.
|
31638358 |
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 |
Identification of the HNF4A mutation in the father established a diagnosis of maturity-onset diabetes of the young (MODY), which enabled medication change resulting in improved glycaemic control.
|
30730840 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also interrogated transactivation activities on multiple gene targets by multiple known and novel HNF4α mutants identified in patients with maturity onset diabetes of the young 1 (MODY1) and liver cancer.
|
30191603 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seventeen children had pathogenic/likely pathogenic variants in MODY genes, two diagnosed with type 2 diabetes, four diagnosed with antibody-negative type 1 diabetes (T1DM), three diagnosed with antibody-positive T1DM, and eight previously diagnosed with MODY.
|
30191644 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, positivity for ZnTA can be used as a negative MODY pre-diagnostic criterion even in the region of Central and East Europe, where other islet cell autoantibodies are common in MODY patients.
|
30377089 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Dysregulation of HNF4α expression has been associated with many human diseases such as ulcerative colitis, colon cancer, maturity-onset diabetes of the young, liver cirrhosis, and hepatocellular carcinoma.
|
31435165 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Methods Mutation analysis of MODY genes (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS and KCNJ11) was performed using targeted NGS in 106 patients with a clinical diagnosis of MODY.
|
30447144 |
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 |
In addition to known MODY genes, we report the identification of variants in RFX6, WFS1, AKT2, NKX6-1 that may contribute to development of MODY.
|
29439679 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
MODY1 is a type of MODY disorder resulting from a mutation in the transcription factor hepatocyte nuclear factor 4 alpha (HNF4α).
|
29990710 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing identified pathogenic HNF1A and HNF4A variants as the most common cause of MODY in Ukraine.
|
28862987 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 4α (HNF4α) has an important role in pancreatic β-cells, and mutations of the human <i>HNF4A</i> gene cause a type of maturity-onset diabetes of the young (MODY1).
|
28364040 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
HNF4A-MODY, GCK-MODY, HNF1A-MODY and HNF1B-MODY, together responsible for probably 99% of MODY cases.
|
27323672 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a subset of HNF4A-MODY mutation carriers (n = 10), CGMS was applied over a 72-h period.
|
27552834 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We redefine p.R114W as a pathogenic mutation that causes a distinct clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatment, and no effect on birth weight.
|
27486234 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs.
|
26109503 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
Biomarker
|
disease |
BEFREE |
Single doses of 3 mg glipizide and 5 mg glibenclamide/glyburide were administered sequentially to seven HNF1A/HNF4A MODY subjects and six control individuals matched for their age, BMI and CYP2C9 genotype.
|
26446475 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
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 |
AlteredExpression
|
disease |
BEFREE |
We addressed the links between the functional and geographically variable PTPN22 SNPs with MODY manifestation and the expression of islet cell autoantibodies in 276 MODY patients who originated from four regions (the Czech Republic, Israel, Japan and Brazil).
|
25896041 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate the contribution of maturity-onset diabetes of the young (MODY) genes to the etiology of 14 Chinese MODY families and to assess phenotypic differences between patients with MODY but without a known genetic cause of diabetes (MODYX) and those with early onset type 2 diabetes (T2D).
|
25588466 |
2015 |