Associated Papers
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
Bissonnette P et al.
Physiological Reports, 2021
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
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.
Park YJ et al.
Biomedical Reports, 2014
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
Moon SS et al.
Endocrine Journal, 2009
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