Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes.
|
29525113 |
2019 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
HNF4α (hepatocyte nuclear factor 4α) is one of the master regulators of pancreatic β-cell development and function, and mutations in the <i>HNF4</i>α gene are well-known monogenic causes of diabetes.
|
31362984 |
2019 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old.
|
30665703 |
2019 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
This case raises the question as to whether hyperglycaemia in GCK-MODY may increase the risk of fetal caudal regression syndrome as reported in women with pre-existing diabetes mellitus.
|
30362177 |
2019 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Monogenic forms of diabetes like MODY and neonatal diabetes have paved the way for precision medicine in diabetes, as carriers of unique mutations require unique treatment.
|
30403316 |
2019 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Furthermore, studies of N-glycan alterations have successfully been used to identify individuals with rare types of diabetes (such as the HNF1A-MODY), and also to evaluate functional significance of novel diabetes-associated mutations.
|
31215021 |
2019 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We here identified a missense mutation (c.773G>A, p.R258H) of HNF4A in a mother and daughter with early-onset diabetes and impaired insulin secretion.
|
30325586 |
2019 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in the genes encoding the pancreatic K<sub>ATP</sub> channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (<i>SLC2A2</i>) leads to diabetes mellitus as part of the Fanconi-Bickel syndrome.
|
31137773 |
2019 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1).
|
30648609 |
2019 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We examined a total of 275 subjects having diabetes suspected to be MODY who were negative for mutations in MODY1-5 referred from 155 medical institutions throughout Japan.
|
28664602 |
2018 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
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 Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Subjects (N = 97) with diabetes onset ≤age 25, measurable C-peptide (≥0.1 ng/mL), and negative for all four diabetes autoantibodies were enrolled at a large academic center and tested for MODY 1-5 through Athena Diagnostics.
|
29355436 |
2018 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China.
|
29510678 |
2018 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In those with HNF1A/HNF4A-MODY, a shorter diabetes duration, lower HbA<sub>1c</sub> and lower BMI at genetic diagnosis predicted successful treatment with sulfonylurea/diet alone, supporting the need for early genetic diagnosis and treatment change.
|
30229274 |
2018 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management.
|
29758564 |
2018 |
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
MODY is an early-onset monogenic form of diabetes.
|
28132100 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India.
|
28095440 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
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 Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes.
|
27913849 |
2017 |
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Rats with STZ-induced diabetes who received GWBR supplementation exhibited decreased expression of sodium-dependent glucose transporter 1 (SGLT1) and glucose transporter (GLUT) 2 genes and proteins in the small intestine via decreases in hepatocyte nuclear factor (HNF)-1α, HNF-1β, and HNF-4α, transcriptional factors that are involved in the regulation of SGLT1 and GLUT2, compared with the rats with STZ-induced diabetes that did not receive GWBR supplements.
|
29093331 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4) reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it.
|
28052112 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
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 Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results suggest that functional characterization of variants within MODY genes may overcome the limitations of bioinformatics tools for the purposes of presymptomatic diabetes risk prediction in the general population.
|
27899486 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre.
|
28663157 |
2017 |
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in HNF4α cause Mature-Onset Diabetes of the Young I (MODYI), a subset of diabetes characterized by diminished GSIS.
|
26792861 |
2016 |