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
Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment.
Kheriji N et al.
Current Issues in Molecular Biology, 2025
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.
Wu HX et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY).
Verma M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions.
Fareed FMA et al.
The Protein Journal, 2021
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 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
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
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH et al.
Diabetologia, 2018
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.
Kleinberger JW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
Balamurugan K et al.
Clinical Genetics, 2016
A dizygotic twin pregnancy in a MODY 3-affected woman.
Bitterman O et al.
Acta Diabetologica, 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
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.
Radha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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