Associated Papers
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
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
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: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Passone CGB et al.
Frontiers in Endocrinology, 2022
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.
Kambal MA et al.
Frontiers in Pediatrics, 2019
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA et al.
Nature Communications, 2017
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
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.
Zegre Amorim M et al.
Case Reports in Genetics, 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
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
Rfx6 directs islet formation and insulin production in mice and humans.
Smith SB et al.
Nature, 2010
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