Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes.
Gong S et al.
Diabetes & Metabolism Journal, 2025
Maturity-Onset Diabetes of the Young (MODY) With HNF1B p.Glu105Lys Mutation Achieving Significant Insulin Reduction on Tirzepatide: A Case Report.
Sue M et al.
Clinical Case Reports, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD.
Hokazono S et al.
Biomolecular Nmr Assignments, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.
Gambella A et al.
Cells, 2023
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 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
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report.
Guo M et al.
Frontiers in Endocrinology, 2021
A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.
Tao T et al.
Medicine, 2020
Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells.
Yabe SG et al.
Plos One, 2019
The role of hepatocyte nuclear factor 1β in disease and development.
El-Khairi R et al.
Diabetes, Obesity & Metabolism, 2016
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.
Iwasaki N et al.
Human Genome Variation, 2016
Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.
Yabe SG et al.
Journal of Diabetes Investigation, 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
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Edghill EL et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2013
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Regulation of human insulin, IGF-I, and multidrug resistance protein 2 promoter activity by hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha and the abnormality of HNF-1beta mutants.
Kitanaka S et al.
The Journal of Endocrinology, 2007
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Roles of HNF-1beta in kidney development and congenital cystic diseases.
Igarashi P et al.
Kidney International, 2005
HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
Barbacci E et al.
Human Molecular Genetics, 2004
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
Bingham C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.
Bohn S et al.
Journal of the American Society of Nephrology : Jasn, 2003
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.
Montoli A et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2002
Molecular etiologies of MODY and other early-onset forms of diabetes.
Shih DQ et al.
Current Diabetes Reports, 2002
Molecular and biochemical analysis of the MODY syndromes.
Winter WE
Pediatric Diabetes, 2000
Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.
Weng JP et al.
Diabetologia, 2000
Human hepatocyte nuclear factor-1 beta (HNF1B) 1968A/G polymorphism.
Cao H et al.
Journal of Human Genetics, 2000
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
Lindner TH et al.
Human Molecular Genetics, 1999
Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus.
Tomura H et al.
The Journal of Biological Chemistry, 1999
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chèvre JC et al.
Diabetologia, 1998
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
Nishigori H et al.
Diabetes, 1998
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
Horikawa Y et al.
Nature Genetics, 1997