Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation

Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of vasopressin V2 receptor (V2R) gene (AVPR2) is the most common cause of the disease. We have identified five novel mutations L...

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Udgivet i:Sci Rep
Main Authors: Prosperi, Federica, Suzumoto, Yoko, Marzuillo, Pierluigi, Costanzo, Vincenzo, Jelen, Sabina, Iervolino, Anna, Guarino, Stefano, La Manna, Angela, Miraglia Del Giudice, Emanuele, Perna, Alessandra F., Zacchia, Miriam, Cordat, Emmanuelle, Capasso, Giovambattista, Trepiccione, Francesco
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7532466/
https://ncbi.nlm.nih.gov/pubmed/33009446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-73089-x
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