Associated Papers
RFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.
Bate TSR et al.
Diabetology International, 2026
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Sriram A et al.
Diabetes, 2025
Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent.
Marucci A et al.
Acta Diabetologica, 2025
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi AA et al.
International Journal of Molecular Sciences, 2022
A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.
Imaki S et al.
Journal of Diabetes Investigation, 2021
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA et al.
Nature Communications, 2017
29026101 (PubMed )
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