Disease: Diabetes insipidus- nephrogenic- dominant type
- Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology
- Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype
- Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus
- Congenital nephrogenic diabetes insipidus: the current state of affairs
- Differential diagnosis of familial diabetes insipidus
- Genetic basis of nephrogenic diabetes insipidus
- Genetic forms of neurohypophyseal diabetes insipidus
- Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2
- Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258
- Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2
- p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation
- Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation
- Physiopathology and diagnosis of nephrogenic diabetes insipidus
- Polarisation, key to good localisation
- Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus