Associated Papers
PDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis.
da Silva BT et al.
Acta Diabetologica, 2025
Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.
Yang X et al.
Jci Insight, 2025
Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.
Lian H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.
Pezzilli S et al.
Acta Diabetologica, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.
Yoshiji S et al.
Journal of the Endocrine Society, 2022
Divergent genes in gerbils: prevalence, relation to GC-biased substitution, and phenotypic relevance.
Dai Y et al.
Bmc Evolutionary Biology, 2020
Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.
Sahebi L et al.
Journal of Medical Case Reports, 2019
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
De Franco E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2013
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning AK et al.
Nature Genetics, 2012
RB regulates pancreas development by stabilizing Pdx1.
Kim YC et al.
The Embo Journal, 2011
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
Fajans SS et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
Nicolino M et al.
Diabetes, 2010
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
Schwitzgebel VM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003