|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Diabetes is caused either by mutations in the glucokinase gene (glucokinase MODY) or by mutations in transcription factors (transcription factor MODY).
|
11554773 |
2001 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MODY1 and MODY3 mutations may interact by chance to give a more severe form of diabetes (younger age at presentation and early need of insulin therapy to control hyperglycemia).
|
20705777 |
2010 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
MODY is an early-onset monogenic form of diabetes.
|
28132100 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family.
|
17440689 |
2007 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 40 individuals with diabetes (1.8% of early onset sub-group and 0.6% of adult onset sub-group) were carriers of known pathogenic missense variants in the GCK, HNF1A, HNF4A, ABCC8, and INS genes.
|
29207974 |
2017 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene.
|
8632993 |
1996 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for K<sub>ATP</sub> channel-related diabetes.
|
29450745 |
2018 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
ADM is a subtype of MODY that occurs in approximately 10% of African-Americans with youth onset diabetes.
|
10609119 |
1999 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families.
|
10868949 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Altogether, the search for rare molecular events in HNF1A and HNF4A led us to elucidate 8 ⁄ 84 (9.5%) of our HNF1A-negative cases.This study shows that genetic aetiologies remain to be elucidated in familial young-onset diabetes.
|
21105491 |
2010 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset ( </= 40 years) diabetes: MODY3 (5.2 %) more than MODY2 (3.5 %) more than MIDD (2.6 %) more than MODY1 (1.7 %).
|
10447526 |
1999 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the HNF4 alpha gene revealed two possible mutations in 182 diabetic patients which suggests that the HNF4 alpha gene does not make a large contribution to diabetes susceptibility in the general population of Caucasian diabetic nephropathic patients.
|
10768098 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As such, HNF4alpha is a culprit gene product for a monogenic and dominantly inherited form of diabetes, known as maturity onset diabetes of the young (MODY).
|
18829458 |
2008 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year β-cell function, insulinogenic index, and oral disposition index.
|
28453780 |
2017 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autoantibody-negative patients were retested at median diabetes duration of 3.2 yr (range 0.9-16.2) for autoantibodies (GAD, IA2, ZnT8), human leukocyte antigen (HLA) typing, non-fasting C-peptide, and sequencing of HNF4A, HNF1A, KCNJ11, and INS.
|
21518407 |
2011 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both families displayed phenotypes typical of HNF4A monogenic beta-cell diabetes, including at least two affected generations, good response to sulphonylurea treatment and increased birthweight and/or neonatal hypoglycaemia.
|
20546279 |
2010 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carrying the minor alleles of the three HNF4A polymorphisms was associated with significantly greater diabetes risk in women carrying the KCNJ11 allele 23K, but not in those who did not carry this allele.
|
17894829 |
2007 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Co-segregation with diabetes was noted with the -1009 G/C and -129 T/C in one MODY family.
|
21062274 |
2011 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common and rare variants of the hepatocyte nuclear factor 4alpha (HNF4A) gene have been associated with type 2 diabetes and related traits in several populations suggesting the involvement of this transcription factor in diabetes pathogenesis.
|
17259399 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
Concerning the Gly15Gly polymorphism, the TT genotype was found in 275 subjects (79.9%), the TG genotype in 67 subjects (19.5%) and the GG genotype in 2 subjects (0.6%): one with maturity onset diabetes of young age (MODY-diabetes) and one with Lipoatrophic Diabetes Syndrome (LPDS).
|
11029602 |
2000 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Drugs that specifically activate HNF4alpha could be developed for treating metabolic diseases such as diabetes, dyslipidemia and cholestasis, as well as drug metabolism and detoxification.
|
19239393 |
2009 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dysfunction of HNF 4 alpha is associated with metabolic disorders including diabetes.
|
18184923 |
2008 |