Associated Papers
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 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
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
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
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
HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.
Haque E et al.
Genes, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
Abreu GM 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
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
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
Recognition of maturity-onset diabetes of the young in China.
Liang H et al.
Journal of Diabetes Investigation, 2021
Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.
Katashima R et al.
Journal of Diabetes Research, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C et al.
Plos One, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.
Yu MG et al.
The Journal of Clinical Investigation, 2019
p.Q511L mutation of HNF1α in hepatocellular carcinoma suppresses the transcriptional activity and the anti-tumor effect of HNF1α.
Ding CH et al.
Biochemical and Biophysical Research Communications, 2018
Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
Balamurugan K et al.
Clinical Genetics, 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
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Beckers A et al.
Endocrine Reviews, 2013
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.
Simms RJ et al.
Qjm : Monthly Journal of the Association of Physicians, 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
Molecular background and clinical characteristics of HNF1A MODY in a Polish population.
Skupien J et al.
Diabetes & Metabolism, 2008
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes.
Harries LW
Expert Review of Endocrinology & Metabolism, 2006
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
Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus.
Kagami-Takasugi M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency.
Cohen RN et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.
Malecki MT et al.
Diabetes Care, 2005
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
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
Johansen A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.
Bjørkhaug L et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.
Tonooka N et al.
Diabetologia, 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
POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease.
Andersen B et al.
Endocrine Reviews, 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
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
Fofanova OV et al.
American Journal of Medical Genetics, 1998
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