|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We describe two siblings with HNF1A-MODY (MODY3) due to a novel germline variant p.(His126Asp) which segregates with diabetes in the family.
|
31844173 |
2020 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
There are a total of ten cases of both MODY 3 and HCA phenotypes reported in the literature to date; incomplete penetrance for HCA was observed, and all the patients with HCA developed diabetes.
|
31754975 |
2020 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In one of the first studies of human pancreatic islets with a disease-causing HNF1A variant associated with the most common form of monogenic diabetes, we found that HNF1A dysfunction leads to insulin-insufficient diabetes reminiscent of T1D by impacting the regulatory processes critical for glucose-stimulated insulin secretion and suggest a rationale for a therapeutic alternative to current treatment.
|
30507613 |
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 |
This is the first study to investigate the association between HNF1A-gene single-nucleotide polymorphisms (SNPs) and having early-onset, MODY-like diabetes mellitus in the Turkish population.
|
31109344 |
2019 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
These clinical indicators could be used as markers of MODY2 and MODY3 in young patients with diabetes.
|
31214998 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These findings provide a possible explanation for the species difference in disease phenotypes observed with HNF1A mutations and offer mechanistic insights into how the HNF1A gene may also influence type 2 diabetes.
|
31374199 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The penetrance of HNF1A variants differs considerably; thus, to assess the genetic risk of diabetes in carrier subjects of a HNF1A mutant allele, a functional characterization of mutant forms is of paramount importance.
|
30963309 |
2019 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been reported in patients with <i>HNF1A, HNF4A</i> and <i>ABCC8</i> mutations.
|
29739729 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A-MODY: Watch out for winkers.
|
31483937 |
2019 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
We herein report a case of HNF1A-MODY characterized by an early onset of diabetes.
|
31098941 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Using traditional criteria (family history of diabetes and onset of diabetes ⩽25 years) and an hs-CRP cut off of ⩽0.5 mg/l, 125 and 37 adults, respectively, were identified for HNF1A gene testing.
|
30181854 |
2018 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In a randomised, double-blinded, crossover study, patients with HNF1A-diabetes will randomly be assigned to 16 weeks of treatment with glimepiride+linagliptin, 4 weeks of washout and 16 weeks of treatment with glimepiride+placebo (or vice versa).
|
30287671 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In this study we aimed to describe the characteristics of young adults diagnosed with diabetes before the age of 45 years, who have rare <i>HNF1A</i> allele variants, and estimate the prevalence of HNF1A-MODY in Croatia.
|
29666556 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study aimed to investigate differences in serum miR-122 levels in Chinese patients with different forms of diabetes, including T2DM, type 1 diabetes (T1DM), HNF1A variant-induced diabetes (HNF1A-DM), glucokinase variant-induced diabetes (GCK-DM), and mitochondrial A3243G mutation-induced diabetes (MDM).
|
30155490 |
2018 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, our findings support that the E3 SUMO ligase PIASγ regulates HNF-1A SUMOylation with functional implications, representing new targets for drug development and precision medicine in diabetes.
|
30143652 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [rs1169288" genes_norm="6927">I27L], rs1800574 [rs1800574" genes_norm="6927">A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY.
|
29895593 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance.
|
28934671 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Furthermore, T2D genetic risk plays a small role in LADA, with a degree of evidence for the HNF1A locus, highlighting the potential for genetic risk scores to contribute towards defining diabetes subtypes.
|
28438156 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our functional investigations indicate that 0.44% of the population carry HNF1A variants that result in a substantially increased risk for developing diabetes.
|
27899486 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In addition, heterozygous protein truncating mutations were detected in the GCK, HNF1A, and HNF1B genes in seven individuals with diabetes.
|
29207974 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Only 14% of patients with familial diabetes carry a HNF1A mutation.
|
28012402 |
2017 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Sixty patients with HNF1A-MODY and a cohort of 60 BMI-, age-, ethnicity- and diabetes duration-matched patients with Type 1 diabetes mellitus participated in the study.All patients were phenotyped in detail.
|
26479152 |
2016 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes.
|
27398945 |
2016 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We present a family with HNF1A-MODY due to a likely pathogenic mutation in HNF1A (c.59G>A, p.Gly20Glu), diagnosed a long time after the first diagnosis of diabetes.
|
27323672 |
2016 |