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
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf
Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.
Ni X et al.
Cancer Cell International, 2025
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
Initial clinical manifestations in a young male with RFX6-variant-associated diabetes.
Akiba K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Trott J et al.
Development (cambridge, England), 2020
A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes.
Akiba K et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2020
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA et al.
Nature Communications, 2017
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