Associated Papers
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
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
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Recognition of maturity-onset diabetes of the young in China.
Liang H et al.
Journal of Diabetes Investigation, 2021
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese.
Gao A et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders, 2021
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.
Carlsson A et al.
Diabetes Care, 2020
Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.
Yeung RO et al.
Reviews in Endocrine & Metabolic Disorders, 2018
A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.
Fang C et al.
Diabetes Research and Clinical Practice, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
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
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
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
Awa WL et al.
European Journal of Endocrinology, 2011
Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.
Enya M et al.
Human Mutation, 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
Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.
Aguilera E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2005
Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes.
Lambert AP et al.
Diabetes Care, 2003
Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.
Galán M et al.
Molecular Medicine (cambridge, Mass.), 0