Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Considering a strong association between human HNF4A polymorphisms and increased risk of type 2 diabetes our current findings suggest that downregulation of AGXT2 and subsequent impairment in metabolism of dimethylarginines and BAIB caused by HNF4α deficiency might contribute to development of cardiovascular complications in diabetic patients.
|
27752141 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
|
27552834 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The four polymorphisms, rs4810424, rs1884613, rs1884614 and rs2144908, in the HNF‑4α gene were not the susceptible loci for type 2 diabetes in the Bai population of Dali city, however, the haplotype, CCTA, built from the four SNPs may increase the risk of type 2 diabetes in this population.
|
26781905 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes.
|
26981542 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, since HNF4A and KLF14 are established loci for type 2 diabetes, it is unlikely that HDL-C solely mediates these associations.
|
26670163 |
2016 |
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characteristics of maturity onset diabetes of the young in a large diabetes center.
|
26059258 |
2016 |
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
|
27245055 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic abnormalities in HNF4A and HNF1A lead to a dual phenotype of HH in the newborn period and maturity onset-diabetes later in life.
|
25733449 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a novel variant (p.Pro190Leu) in HNF4A, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in KCNJ11, which is associated with type 2 diabetes.
|
26315042 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All 13 known MODY genes, genes identified from a genome-wide linkage study or genome-wide association studies as increasing the risk of type 2 diabetes and genes causing diabetes in animal models, were included in the custom panel.
|
25048417 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The study included 72 patients with HNF1A-MODY, 72 with GCK-MODY, 53 with type 1 diabetes (T1DM), 70 with type 2 diabetes (T2DM), and 65 controls.
|
26347889 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Half-Life of Sulfonylureas in HNF1A and HNF4A Human MODY Patients is not Prolonged as Suggested by the Mouse Hnf1a(-/-) Model.
|
26446475 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
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 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
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 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several HNF4A gene variants have been associated with the risk of developing type 2 diabetes mellitus.
|
25671620 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Making the diagnosis of GCK-MODY through genetic testing is essential to avoid unnecessary treatment and investigations, especially when patients are misdiagnosed with type 1 or type 2 diabetes.
|
26106223 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
TCF7L2 is one of the key 'gate-keeper' TCF family members for Wnt/β-catenin signaling pathway, and TCF7L2 and EXT2 are among the earliest associated loci reported in genome wide appraisals of type 2 diabetes (T2D).
|
25498973 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Exploring the role of the HNF-1αG319S polymorphism in β cell failure and youth-onset type 2 diabetes: Lessons from MODY and Hnf-1α-deficient animal models.
|
26176428 |
2015 |
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
|
25819479 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D).
|
25400315 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Early-onset type 2 diabetes mellitus is associated to HNF4A T130I polymorphism in families of central Spain.
|
25361053 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
|
24509480 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
|
24509480 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have shown for the first time that variants at WFS1, JAZF1, SLC30A8, CDKN2A/B, TCF7L2, KCNQ1, HMG20A, HNF4A and DUSP9 are associated with T2D in the Saudi population.
|
23448427 |
2014 |
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
|
24285859 |
2014 |