Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 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
A case series of maturity-onset diabetes of the young highlighting atypical presentations and the implications of genetic diagnosis.
Narasimhegowda M et al.
Archives of Endocrinology and Metabolism, 2024
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.
Gambella A et al.
Cells, 2023
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
Pinon M et al.
Bmj Open Gastroenterology, 2022
The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
Ge S 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
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
Pinon M et al.
Italian Journal of Pediatrics, 2019
Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5).
Kim EK et al.
Genomics & Informatics, 2014
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
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
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
Edghill EL et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
Kitanaka S et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Elucidating the Mutational Landscape in Hepatocyte Nuclear Factor 1β (HNF1B) by Computational Approach.
Sneha P et al.
Advances in Protein Chemistry and Structural Biology, 0
Neonatal cholestasis.
Arora NK
Tropical Gastroenterology : Official Journal of the Digestive Diseases Foundation, 0