Associated Papers
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Sriram A et al.
Diabetes, 2025
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 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
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N et al.
Cell Genomics, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY.
Brandes GIG et al.
Archives of Endocrinology and Metabolism, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Laver TW et al.
Diabetes, 2022
When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
Üstay Ö et al.
Archives of Endocrinology and Metabolism, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.
Ateş EA et al.
Balkan Medical Journal, 2021
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 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
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
Malikova J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
Yorifuji T et al.
Pediatric Diabetes, 2018
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Ushijima K et al.
Pediatric Diabetes, 2018
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.
P S et al.
Plos One, 2017
Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.
Brahm AJ et al.
Canadian Journal of Diabetes, 2016
Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.
Moritani M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.
Horikawa Y et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2014
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
Stanik J et al.
Diabetologia, 2014
Alterations in bile acid synthesis in carriers of hepatocyte nuclear factor 1α mutations.
Ekholm E et al.
Journal of Internal Medicine, 2013
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.
Colclough K et al.
Human Mutation, 2013
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2).
Spégel P et al.
Diabetes, 2013
Characterization of beta cell and incretin function in patients with MODY1 (HNF4A MODY) and MODY3 (HNF1A MODY) in a Swedish patient collection.
Ekholm E et al.
Acta Diabetologica, 2012
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A et al.
Plos Genetics, 2012
Uridine 5'-diphospho-glucuronosyltransferase genetic polymorphisms and response to cancer chemotherapy.
Ramírez J et al.
Future Oncology (london, England), 2010
Molecular background and clinical characteristics of HNF1A MODY in a Polish population.
Skupien J et al.
Diabetes & Metabolism, 2008
Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?
Karlsson E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes.
Harries LW
Expert Review of Endocrinology & Metabolism, 2006
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
Mechanisms of mutual functional interactions between HNF-4alpha and HNF-1alpha revealed by mutations that cause maturity onset diabetes of the young.
Rowley CW et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2006
Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.
Malecki MT et al.
Diabetes Care, 2005
Oligonucleotide chip for the diagnosis of HNF-1 alpha mutations.
Park HG et al.
Biosensors & Bioelectronics, 2005
Diagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extension.
Song JY et al.
Nucleic Acids Research, 2005
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).
McKinney JL et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2004