Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.
Ghanem SS et al.
Cellular & Molecular Biology Letters, 2025
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level.
Sugano Y et al.
Diabetology International, 2025
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.
Wang L et al.
Archives of Gynecology and Obstetrics, 2024
A noncoding variant confers pancreatic differentiation defect and contributes to diabetes susceptibility by recruiting RXRA.
Li Y et al.
Nature Communications, 2024
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M et al.
Pediatric Nephrology (berlin, Germany), 2024
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
Pavithram A et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA et al.
Diabetologia, 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
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
Modeling HNF1B-associated monogenic diabetes using human iPSCs reveals an early stage impairment of the pancreatic developmental program.
El-Khairi R et al.
Stem Cell Reports, 2021
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH et al.
Bmc Pediatrics, 2021
New-onset diabetes after kidney transplantation revealing HNF1B-associated disease.
Lopes AM et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report.
Terakawa A et al.
Medicine, 2020
Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
Lim SH et al.
Journal of Clinical Medicine, 2020
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.
Sztromwasser P et al.
Pediatric Diabetes, 2020
Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research.
Hu M et al.
Frontiers in Endocrinology, 2020
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I et al.
Kidney International Reports, 2019
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C et al.
Pediatric Nephrology (berlin, Germany), 2019
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
Kato T et al.
Internal Medicine (tokyo, Japan), 2018
Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus.
Horikawa Y
Journal of Diabetes Investigation, 2018
The role of hepatocyte nuclear factor 1β in disease and development.
El-Khairi R et al.
Diabetes, Obesity & Metabolism, 2016
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia.
Teo AK et al.
Stem Cell Reports, 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
Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.
Tjora E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2013
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Gonc EN et al.
Pediatric Diabetes, 2012
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Greeley SA et al.
Current Diabetes Reports, 2011
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Thomas R et al.
Pediatric Nephrology (berlin, Germany), 2011
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Lack of pancreatic body and tail in HNF1B mutation carriers.
Haldorsen IS et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.
Mayer C et al.
Metabolism: Clinical and Experimental, 2008
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.
Lu P et al.
Biochemistry, 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
Hepatocyte nuclear factor-1β: A regulator of kidney development and cystogenesis.
Singh V et al.
Indian Journal of Nephrology, 0