Associated Papers
Children with Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.
Denson AM et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.
Sahebi L et al.
Journal of Medical Case Reports, 2019
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.
Kulkarni A et al.
Indian Pediatrics, 2017
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 novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
Nicolino M et al.
Diabetes, 2010
Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India.
Korula S et al.
Indian Journal of Endocrinology and Metabolism, 0
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