Associated Papers
Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.
Yoshiji S et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.
Kozlowska-Geller M et al.
Cancers, 2025
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 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
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
Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.
Kavitha B et al.
Frontiers in Endocrinology, 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
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor.
Li TL et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 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
Tumour-Derived Cell Lines and Their Potential for Therapy Prediction in Patients with Metastatic Colorectal Cancer.
Wagner S et al.
Cancers, 2021
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
New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.
Ma Y et al.
Bmj Open Diabetes Research & Care, 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
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes.
Huang X et al.
Journal of Diabetes Research, 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
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
Mody-3: novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy.
Docena MK et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2014
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Etiology of early-onset type 2 diabetes in Indians: islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene.
Sahu RP et al.
The Journal of Clinical Endocrinology and 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
Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.
Bjørkhaug L et al.
Dna and Cell Biology, 2005
Diabetes mutations delineate an atypical POU domain in HNF-1alpha.
Chi YI et al.
Molecular Cell, 2002
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
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
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
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