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2. Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. Cheong HI; Cho HY; Park HW; Ha IS; Choi Y Nephrology (Carlton); 2007 Apr; 12(2):113-7. PubMed ID: 17371330 [TBL] [Abstract][Full Text] [Related]
3. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Oksche A; Schülein R; Rutz C; Liebenhoff U; Dickson J; Müller H; Birnbaumer M; Rosenthal W Mol Pharmacol; 1996 Oct; 50(4):820-8. PubMed ID: 8863826 [TBL] [Abstract][Full Text] [Related]
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6. Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Bichet DG; Turner M; Morin D Proc Assoc Am Physicians; 1998; 110(5):387-94. PubMed ID: 9756088 [TBL] [Abstract][Full Text] [Related]
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11. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Birnbaumer M; Gilbert S; Rosenthal W Mol Endocrinol; 1994 Jul; 8(7):886-94. PubMed ID: 7984150 [TBL] [Abstract][Full Text] [Related]
12. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus. Böselt I; Tramma D; Kalamitsou S; Niemeyer T; Nykänen P; Gräf KJ; Krude H; Marenzi KS; Di Candia S; Schöneberg T; Schulz A Nephrol Dial Transplant; 2012 Apr; 27(4):1521-8. PubMed ID: 21917732 [TBL] [Abstract][Full Text] [Related]
13. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]. Knoers NV; Deen PM Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2402-4. PubMed ID: 11145096 [TBL] [Abstract][Full Text] [Related]