Associated Papers
Coexistence of Maturity-Onset Diabetes of the Young Type 3 (MODY 3) and Diabetic Ketoacidosis: A Report of a Rare Case.
Ekwueme DE et al.
Cureus, 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
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
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 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
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.
Doğan M et al.
Molecular Biology Reports, 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
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
McGlacken-Byrne SM et al.
European Journal of Endocrinology, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
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
Recognition of maturity-onset diabetes of the young in China.
Liang H et al.
Journal of Diabetes Investigation, 2021
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
Moalla M et al.
Frontiers in Endocrinology, 2021
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.
Bacon S et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule.
Terryn S et al.
Kidney International, 2016
MicroRNA-224 is Readily Detectable in Urine of Individuals with Diabetes Mellitus and is a Potential Indicator of Beta-Cell Demise.
Bacon S et al.
Genes, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
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
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A et al.
Diabetes Care, 2014
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
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
Should the negativity for islet cell autoantibodies be used in a prescreening for genetic testing in maturity-onset diabetes of the young? The case of autoimmunity-associated destruction of pancreatic β-cells in a family of HNF1A-MODY subjects.
Urbanová J et al.
International Archives of Allergy and Immunology, 2013
Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.
Jeannot E et al.
Diabetes, 2010
Three novel mutations in MODY and its phenotype in three different Czech families.
Bazalová Z et al.
Diabetes Research and Clinical Practice, 2010
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.
Lu P et al.
Biochemistry, 2007
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
Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.
Gu N et al.
Biochemical and Biophysical Research Communications, 2006
Oligonucleotide chip for the diagnosis of HNF-1 alpha mutations.
Park HG et al.
Biosensors & Bioelectronics, 2005
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
Johansen A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers.
Sagen JV et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2005
Diagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extension.
Song JY et al.
Nucleic Acids Research, 2005
Effect of mutations in HNF-1alpha and HNF-1beta on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells.
Gu N et al.
Biochemical and Biophysical Research Communications, 2004
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.
Harries LW et al.
Diabetes, 2004
HNF-1alpha and endodermal transcription factors cooperatively activate Fabpl: MODY3 mutations abrogate cooperativity.
Divine JK et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2003
Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.
Thomas H et al.
Biological Chemistry, 2002
Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
Ryffel GU
Journal of Molecular Endocrinology, 2001
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000