Associated Papers
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.
Jeffery N et al.
Bmj Open Diabetes Research & Care, 2024
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf
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
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
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
31006513 (PubMed )
Supplement: mmc1.pdf
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
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
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