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
Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Yu F et al.
Chinese Medical Journal, 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
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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