|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI 9.79-125, P = 2 × 10(-21)) for diabetes in our MODY cohort compared with control subjects. p.R114W heterozygotes did not have the increased birth weight of patients with other HNF4A mutations (3,476 g vs. 4,147 g, P = 0.0004), and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P = 0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compared with 71% for other HNF4A mutations.
|
27486234 |
2016 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A dual phenotype is observed in HNF4A-MODY with hyperinsulinaemic hypoglycaemia in the neonatal period progressing to diabetes in adulthood.
|
27552834 |
2016 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the transcription factors HNF1A and HNF4A and in the β-cell potassium ATP channel components cause diabetes which responds to low dose and high dose sulfonylurea agents, respectively, while glucokinase mutations require no treatment.
|
27432078 |
2016 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three SNPs, at CETP, KLF14 and HNF4A, associated with type 2 diabetes only in female participants with the HDL-C-lowering allele increasing diabetes risk (p values: 3.2 × 10(-4) to 7.7 × 10(-5)); the association remained significant even after adjustment for HDL-C. Additional analysis across CETP identified rs6499863 as having the strongest association with type 2 diabetes in female participants (p = 5.0 × 10(-6)) and this association remained independent of the HDL-C association.
|
26670163 |
2016 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Network-based metaanalysis of four independent microarray studies identified the hepatocyte nuclear factor 4 alpha (HNF4A), a transcription factor associated with gluconeogenesis and diabetes, as a central regulatory hub gene up-regulated in blood of PD patients.
|
25646437 |
2015 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Comparison of Glomerular Filtration Rate Estimation from Serum Creatinine and Cystatin C in HNF1A-MODY and Other Types of Diabetes.
|
26347889 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in 13 known MODY genes were not present in the 14 Chinese families and they were classified as MODYX.
|
25588466 |
2015 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
It is important that all clinicians supervising diabetes care recognize the cardinal features that distinguish GCK-MODY from other forms of diabetes.
|
25494859 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first major study of HNF1B-MODY from India and shows that about 10% of young diabetic subjects with renal abnormalities seen at a tertiary diabetes centre harbor HNF1B gene mutations.
|
25441779 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In univariate logistic regression analysis in the HNF1A-MODY group, significant results were found for diabetes duration, fasting glycemia, HbA1c, arterial hypertension, age at the examination, and eGFR.
|
26240958 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Maturity onset diabetes of the young (MODY) genetic testing was carried out in 80 subjects of Asian Indian origin with young onset diabetes to identify mutations in a comprehensive panel of ten MODY genes.
|
25041077 |
2015 |
|
Diabetes
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of note, 40% of people with HNF1A-MODY and medical treatment were receiving insulin alone and thus were not being treated in line with up-to-date International Society for Pediatric and Adolescent Diabetes/International Diabetes Federation guidelines, despite insulin treatment being associated with worse metabolic control and the risk of hypoglycaemia.
|
25483937 |
2015 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
|
24001579 |
2014 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Glucokinase MODY and implications for treatment goals of common forms of diabetes.
|
25344793 |
2014 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes.
|
24285859 |
2014 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
In our cohort of MODY patients from two national centres the de novo mutations in GCK, HNF1A and HNF4A were present in 7.3% of the 150 families without a history of diabetes and 1.2% of all of the referrals for MODY testing.
|
24323243 |
2014 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report two sisters with childhood onset diabetes who are both heterozygous for the most common mutation in each of two transcription factors, HNF1A, and HNF4A.
|
23551881 |
2013 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings functionally link the miR-24/MODY gene regulatory pathway to the onset of type 2 diabetes and create a novel network between nutrient overload and genetic diabetes via miR-24.
|
23761103 |
2013 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified a mutation in one of three MODY genes in 47 participants, or 8.0% of the tested sample, for a prevalence of at least 1.2% in the pediatric diabetes population.
|
23771925 |
2013 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families.
|
23224494 |
2013 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Only four probands fulfilled MODY criteria, with two diagnosed after 25 years and one patient, who had no family history of diabetes, as a result of a proven de novo mutation.
|
21989597 |
2012 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2).
|
22486180 |
2012 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
This case highlights the challenges of making a correct diagnosis of MODY in young onset diabetes.
|
22787179 |
2012 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unique nuclear receptor Hepatocyte Nuclear Factor 4α (HNF4α) is an essential transcriptional regulator for early development and proper function of pancreatic ß-cells, and its mutations are monogenic causes of a dominant inherited form of diabetes referred to as Maturity Onset Diabetes of the Young 1 (MODY1).
|
22952853 |
2012 |