Associated Papers
Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene.
Padilla-Guzmán A et al.
International Journal of Molecular Sciences, 2025
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
Saglar Ozer E et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D et al.
Endocrine, 2012
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