MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Maturity-onset diabetes of the young type 3 (MODY 3) is a consequence of heterozygous germline mutations in HNF1A, and a subtype of hepatocellular adenoma (HCA) is caused by biallelic somatic HNF1A mutations; rare HCA may be related to MODY 3.
|
31754975 |
2020 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
To elucidate the pathology of MODY, we established MODY3 patient-derived iPS (MODY3-iPS) cells using non-integrating Sendai virus (SeV) vector and examined the mutant mRNA and protein of HNF1A (Hepatocyte Nuclear factor 1A) after pancreatic lineage differentiation.
|
31145732 |
2019 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations.
|
29222740 |
2018 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HNF1α gene are frequently associated with maturity-onset diabetes of the young type 3 (MODY3) and hepatocellular adenomas.
|
29101032 |
2018 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.
|
29597128 |
2018 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
CTD_human |
Improvement of hyperglycemia in a murine model of insulin resistance and high glucose- and inflammasome-mediated IL-1β expressions in macrophages by silymarin.
|
29753610 |
2018 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human mutations in its prototypical member HNF1A cause maturity-onset diabetes of the young (MODY) type 3.
|
29109103 |
2017 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We developed a transgenic cloned pig (founder, male) carrying a mutant gene, i.e., human HNF-1α (P291fsinsC), which is responsible for maturity-onset diabetes of the young type 3.
|
28254450 |
2017 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The HNF1A variant p.Ala180Val does not seem to cause MODY3, although it may confer risk for type 2 diabetes mellitus.
|
28934671 |
2017 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Over the past years, several studies have reported the association of missense mutations in the Hepatocyte Nuclear Factor 1 Alpha (HNF1A) with MODY3.
|
28410371 |
2017 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3.
|
27142837 |
2016 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.
|
25414397 |
2014 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because little is known about incretin function in patients with MODY, we studied the incretin effect and hormone responses to oral and intravenous glucose loads in patients with glucokinase (GCK)-diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A)-diabetes (MODY3), respectively, and in matched healthy control subjects.
|
24677712 |
2014 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3).
|
24915262 |
2014 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Carriers of both GCK and HNF1A mutations manifested a typical MODY 3 phenotype and showed that the presence of a second mutation in the GCK gene apparently did not modify the clinical outcome, at least at the time of this study.
|
23009393 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we profiled metabolites in serum from patients with MODY1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), and type 2 diabetes and from healthy individuals to characterize metabolic perturbations caused by specific mutations.
|
23139355 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The described family demonstrates a novel HNF1A mutation associated with both benign and malignant primary liver cell tumours and MODY3.
|
23707370 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 1 alpha (HNF1A) mutations cause maturity-onset diabetes of the young (MODY) type 3.
|
23616187 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
|
23348805 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
|
23517481 |
2013 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Maturity-onset diabetes of the young type 3 (MODY3) is caused by heterozygous mutation in the HNF1A gene.
|
22672869 |
2012 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
|
22802087 |
2012 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3).
|
21224407 |
2011 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
HNF1A-MODY (MODY3) is a common subtype of autosomal dominant diabetes.
|
21648289 |
2011 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed.
|
21677039 |
2011 |