Article
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
Journal of the American Society of Nephrology : JASN - 1 Oct 1998
Ala Y, Morin D, Mouillac B, Sabatier N, Vargas R, Cotte N, Déchaux M, Antignac C, Arthus M F, Lonergan M, Turner M S, Balestre M N, Alonso G, Hibert M, Barberis C, Hendy G N, Bichet D G, Jard S
Abstract excerpt
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine vasopressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28. To study the cause of loss of function of mutant V2 receptors, we expressed 12 mutations (N55H, L59P, L83Q, V8...
Topics
- Blotting, Western
- Cell Membrane
- Cells, Cultured
- Diabetes Insipidus, Nephrogenic
- Female
- Humans
- Kidney
- Male
- Microscopy, Electron
- Microscopy, Fluorescence
- Models, Molecular
- Mutation
- Pedigree