Associated Papers
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 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
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
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
Gaál Z et al.
Life (basel, Switzerland), 2021
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
Marchand L et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.
Alvelos MI et al.
Journal of Clinical Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.
Yu MG et al.
The Journal of Clinical Investigation, 2019
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Johnson SR et al.
Pediatric Diabetes, 2019
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Johnson SR et al.
Pediatric Diabetes, 2018
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
HNF1α defect influences post-prandial lipid regulation.
St-Jean M et al.
Plos One, 2017
Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule.
Terryn S et al.
Kidney International, 2016
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.
Alakus H et al.
Genome Medicine, 2014
Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
Furuzawa GK et al.
Diabetes Research and Clinical Practice, 2008
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 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
Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels.
Richter S et al.
Diabetes, 2003
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
Barrio R et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[SSCP (single strand conformation polymorphism) analysis for detection of point mutations. A technique and its limits exemplified by dominantly inherited forms of diabetes (MODY)].
Ziemssen F et al.
Medizinische Klinik (munich, Germany : 1983), 2001
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
Frayling TM et al.
Diabetes, 2001
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
Molecular and biochemical analysis of the MODY syndromes.
Winter WE
Pediatric Diabetes, 2000
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.
Costa A et al.
European Journal of Endocrinology, 2000
Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
Yoshiuchi I et al.
Diabetologia, 1999
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chèvre JC et al.
Diabetologia, 1998
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
Gragnoli C et al.
Diabetes, 1997
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Frayling TM et al.
Diabetes, 1997