Associated Papers
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
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients.
Shi P et al.
World Journal of Diabetes, 2024
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2020
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Firdous P et al.
Frontiers in Endocrinology, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Prudente S et al.
American Journal of Human Genetics, 2015
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