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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.
Kambal MA et al.
Frontiers in Pediatrics, 2019
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.
Skopkova M et al.
European Journal of Medical Genetics, 2016
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
Khan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Xenopus as a model system for studying pancreatic development and diabetes.
Kofent J et al.
Seminars in Cell & Developmental Biology, 2016
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Sansbury FH et al.
European Journal of Human Genetics : Ejhg, 2015
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
Concepcion JP et al.
Pediatric Diabetes, 2014
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
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
Spiegel R et al.
American Journal of Medical Genetics. Part A, 2011
Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
Pearl EJ et al.
Developmental Biology, 2011
Rfx6 directs islet formation and insulin production in mice and humans.
Smith SB et al.
Nature, 2010
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