Associated Papers
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
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
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
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.
Bacon S et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
Hepatocellular adenoma classification: a comparative evaluation of immunohistochemistry and targeted mutational analysis.
Margolskee E et al.
Diagnostic Pathology, 2016
Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing.
Zhang N et al.
Plos One, 2016
MicroRNA-224 is Readily Detectable in Urine of Individuals with Diabetes Mellitus and is a Potential Indicator of Beta-Cell Demise.
Bacon S et al.
Genes, 2015
Identification of circulating microRNAs in HNF1A-MODY carriers.
Bonner C et al.
Diabetologia, 2013
Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young.
Kyithar MP et al.
Journal of Translational Medicine, 2013
Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.
Bacon S et al.
Bmc Endocrine Disorders, 2012
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.
Kyithar MP et al.
Diabetes & Metabolism, 2011
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
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
Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.
Zucman-Rossi J et al.
Hepatology (baltimore, Md.), 2006
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.
Harries LW et al.
Diabetes, 2004
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
Frayling TM et al.
Diabetes, 2001