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6. 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]
7. 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]
8. AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus. Wildin RS; Cogdell DE; Valadez V Kidney Int; 1998 Dec; 54(6):1909-22. PubMed ID: 9853256 [TBL] [Abstract][Full Text] [Related]
9. Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function. Sangkuhl K; Römpler H; Busch W; Karges B; Schöneberg T Hum Mutat; 2005 May; 25(5):505. PubMed ID: 15841479 [TBL] [Abstract][Full Text] [Related]
11. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients]. Gu F; Shi Y; Deng J; Jin Z Zhonghua Yi Xue Za Zhi; 2002 Oct; 82(20):1401-5. PubMed ID: 12509923 [TBL] [Abstract][Full Text] [Related]
12. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. Pasel K; Schulz A; Timmermann K; Linnemann K; Hoeltzenbein M; Jääskeläinen J; Grüters A; Filler G; Schöneberg T J Clin Endocrinol Metab; 2000 Apr; 85(4):1703-10. PubMed ID: 10770218 [TBL] [Abstract][Full Text] [Related]
13. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. Tsukaguchi H; Matsubara H; Taketani S; Mori Y; Seido T; Inada M J Clin Invest; 1995 Oct; 96(4):2043-50. PubMed ID: 7560098 [TBL] [Abstract][Full Text] [Related]
14. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. Robben JH; Knoers NV; Deen PM Am J Physiol Renal Physiol; 2005 Aug; 289(2):F265-72. PubMed ID: 16006591 [TBL] [Abstract][Full Text] [Related]
15. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients. Boson WL; Della Manna T; Damiani D; Miranda DM; Gadelha MR; Liberman B; Correa H; Romano-Silva MA; Friedman E; Silva FF; Ribeiro PA; De Marco L Genet Test; 2006; 10(3):157-62. PubMed ID: 17020465 [TBL] [Abstract][Full Text] [Related]
18. Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus. Morello JP; Salahpour A; Petäjä-Repo UE; Laperrière A; Lonergan M; Arthus MF; Nabi IR; Bichet DG; Bouvier M Biochemistry; 2001 Jun; 40(23):6766-75. PubMed ID: 11389590 [TBL] [Abstract][Full Text] [Related]
19. Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant. Rosenthal W; Seibold A; Antaramian A; Gilbert S; Birnbaumer M; Bichet DG; Arthus MF; Lonergan M Cell Mol Biol (Noisy-le-grand); 1994 May; 40(3):429-36. PubMed ID: 7920187 [TBL] [Abstract][Full Text] [Related]
20. A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. Schernthaner-Reiter MH; Adams D; Trivellin G; Ramnitz MS; Raygada M; Golas G; Faucz FR; Nilsson O; Nella AA; Dileepan K; Lodish M; Lee P; Tifft C; Markello T; Gahl W; Stratakis CA Eur J Pediatr; 2016 May; 175(5):727-33. PubMed ID: 26795631 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]