Article
Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.
Scientific reports - 2 Oct 2020
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
Abstract excerpt
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 L86P, R113Q, C192S, M272R, and W323_I324insR from NDI-affected patients. Functional characterization of these mutants...
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