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
39542526 (PubMed )
Supplement: bmjdrc-12-6-s001.pdf
Clinical and molecular description of two cases of neonatal diabetes secondary to mutations in PDX1.
Forero-Castro N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2023
Biophysical insights into glucose-dependent transcriptional regulation by PDX1.
Usher ET et al.
The Journal of Biological Chemistry, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.
Sahebi L et al.
Journal of Medical Case Reports, 2019
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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