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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.
Aktas T et al.
Frontiers in Bioscience (landmark Edition), 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
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
De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl-Case report.
Peng H et al.
Bmc Endocrine Disorders, 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
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
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
Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.
Haddouche A et al.
Journal of Diabetes, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young.
Wang X et al.
Acta Diabetologica, 2019
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
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.
Giuffrida FMA et al.
Diabetes Research and Clinical Practice, 2017
Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
Balamurugan K et al.
Clinical Genetics, 2016
Tumourigenic non-small-cell lung cancer mesenchymal circulating tumour cells: a clinical case study.
Morrow CJ et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016
Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Glioblastoma.
Diamandis P et al.
Diagnostic Pathology, 2016
Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies.
Heneberg P et al.
International Archives of Allergy and Immunology, 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
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
Tatsi C et al.
Pediatric Diabetes, 2013
Molecular diagnosis of maturity onset diabetes of the young in India.
Nair VV et al.
Indian Journal of Endocrinology and Metabolism, 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
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
Molecular background and clinical characteristics of HNF1A MODY in a Polish population.
Skupien J et al.
Diabetes & Metabolism, 2008
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
Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.
Zucman-Rossi J et al.
Hepatology (baltimore, Md.), 2006
[Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)].
Takeda J
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998