Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

Author:

García Castaño Alejandro, ,Pérez de Nanclares Gustavo,Madariaga Leire,Aguirre Mireia,Chocron Sara,Madrid Alvaro,Lafita Tejedor Francisco Javier,Gil Campos Mercedes,Sánchez del Pozo Jaime,Ruiz Cano Rafael,Espino Mar,Gomez Vida Jose Maria,Santos Fernando,García Nieto Victor Manuel,Loza Reyner,Rodríguez Luis Miguel,Hidalgo Barquero Emilia,Printza Nikoleta,Camacho Juan Antonio,Castaño Luis,Ariceta Gema

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference51 articles.

1. Ala Y, Morin D, Mouillac B, Sabatier N, Vargas R, Cotte N, Déchaux M, Antignac C, Arthus MF, Lonergan M, Turner MS, Balestre MN, Alonso G, Hibert M, Barberis C, Hendy GN, Bichet DG, Jard S (1998) Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J Am Soc Nephrol 9(10):1861–1872

2. Albertazzi E, Zanchetta D, Barbier P, Faranda S, Frattini A, Vezzoni P, Procaccio M, Bettinelli A, Guzzi F, Parenti M, Chini B (2000) Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families. J Am Soc Nephrol 11(6):1033–1043

3. Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD (2013) Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V). PLoS One 8(6):e65885

4. Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Kaplan BS, Robertson GL, Sasaki S, Morgan K, Bichet DG, Fujiwara TM (2000) Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 11(6):1044–1054

5. Bichet DG (2009) V2R mutations and nephrogenic diabetes insipidus. Prog Mol Biol Transl Sci 89:15–29

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