Associated Papers
Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.
Laver TW et al.
European Journal of Endocrinology, 2025
High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.
Thuesen ACB et al.
Canadian Journal of Diabetes, 2025
Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.
Bazzazzadehgan S et al.
Biomolecules, 2025
Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis.
Alarcon G et al.
Hormone Research in Paediatrics, 2025
Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.
Cherkaoui I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Abdelwahed M et al.
Gene, 2024
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.
Kickova T et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
Genetics of metabolic traits in Greenlanders.
Thuesen ACB et al.
Danish Medical Journal, 2023
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Stalbow LA et al.
Diabetologia, 2023
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB et al.
The Lancet Regional Health. Europe, 2023
Two case reports of maturity-onset diabetes of the young type 3 caused by the hepatocyte nuclear factor 1α gene mutation.
Wen Q et al.
Open Medicine (warsaw, Poland), 2023
Optimizing maturity-onset diabetes of the young detection in a pediatric diabetes population.
Menon S et al.
Pediatric Diabetes, 2022
HNF1A Mutations and Beta Cell Dysfunction in Diabetes.
Miyachi Y et al.
International Journal of Molecular Sciences, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.
Jurado-Camacho PA et al.
Frontiers in Genetics, 2022
100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.
Ikle JM et al.
The Journal of Endocrinology, 2021
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes.
Hosoe J et al.
Human Genome Variation, 2021
Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.
Cruz-Bautista I et al.
Lipids in Health and Disease, 2021
Monogenic diabetes: a gateway to precision medicine in diabetes.
Zhang H et al.
The Journal of Clinical Investigation, 2021
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
Ishigaki K et al.
Nature Genetics, 2020
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant.
Tan CSH et al.
European Journal of Human Genetics : Ejhg, 2020
The Impact of Pharmacogenomics in Personalized Medicine.
Singh DB
Advances in Biochemical Engineering/biotechnology, 2020
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
Novel insights into genetics and clinics of the HNF1A-MODY.
Valkovicova T et al.
Endocrine Regulations, 2019
Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.
Juszczak A et al.
Diabetes Care, 2019
Genetics of metabolic traits in Greenlanders: lessons from an isolated population.
Andersen MK et al.
Journal of Internal Medicine, 2018
Genetics of Monogenic Diabetes: Present Clinical Challenges.
Misra S et al.
Current Diabetes Reports, 2018
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera AV et al.
Nature Genetics, 2018
Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas.
Martagón AJ et al.
Diabetes Care, 2018
High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.
Dziewulska A et al.
Genes, 2018
The molecular functions of hepatocyte nuclear factors - In and beyond the liver.
Lau HH et al.
Journal of Hepatology, 2018
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
Majidi S et al.
Diabetes Technology & Therapeutics, 2018
The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.
Sagen JV et al.
Diabetes Research and Clinical Practice, 2017
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
The Genetic Basis of Type 2 Diabetes in Hispanics and Latin Americans: Challenges and Opportunities.
Mercader JM et al.
Frontiers in Public Health, 2017
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Chambers C et al.
Pediatric Diabetes, 2016
Genetics of Type 2 Diabetes: the Power of Isolated Populations.
Andersen MK et al.
Current Diabetes Reports, 2016
Leveraging Genetics to Advance Type 2 Diabetes Prevention.
Florez JC
Plos Medicine, 2016