Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1329 | Clinical Cases–Thyroid/Other | ECE2015

Functional analysis of four mutants of the V2 receptor

Erdem Beril , Schulz Angela , Saglar Emel , Schoneberg Torsten , Deniz Ferhat , Mergen Hatice

Diabetes insipidus is a disorder characterised by severe liquid-imbalance because of the inability to concentrate urine. Inactivating mutations in either arginine vasopressin receptor type 2 (AVPR2) or aquaporin 2 (AQP2) gene can cause congenital Nephrogenic diabetes insipidus (NDI). AVPR2 is a G protein-coupled receptor (GPCR) and is mainly expressed at the basolateral site of the kidneys collecting duct principal cells. Activation of this receptor by vasopressin is responsib...