223 related articles for article (PubMed ID: 21917732)
1. 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]
2. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
Chen CH; Chen WY; Liu HL; Liu TT; Tsou AP; Lin CY; Chao T; Qi Y; Hsiao KJ
J Hum Genet; 2002; 47(2):66-73. PubMed ID: 11916004
[TBL] [Abstract][Full Text] [Related]
3. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E; Milord E; Gragnoli C
J Cell Physiol; 2008 Dec; 217(3):605-17. PubMed ID: 18726898
[TBL] [Abstract][Full Text] [Related]
4. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
Neocleous V; Skordis N; Shammas C; Efstathiou E; Mastroyiannopoulos NP; Phylactou LA
Metabolism; 2012 Jul; 61(7):922-30. PubMed ID: 22386940
[TBL] [Abstract][Full Text] [Related]
5. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
Schöneberg T; Schulz A; Biebermann H; Grüters A; Grimm T; Hübschmann K; Filler G; Gudermann T; Schultz G
Hum Mutat; 1998; 12(3):196-205. PubMed ID: 9711877
[TBL] [Abstract][Full Text] [Related]
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]
10. Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide.
Schoneberg T; Yun J; Wenkert D; Wess J
EMBO J; 1996 Mar; 15(6):1283-91. PubMed ID: 8635461
[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]
16. V2R mutations and nephrogenic diabetes insipidus.
Bichet DG
Prog Mol Biol Transl Sci; 2009; 89():15-29. PubMed ID: 20374732
[TBL] [Abstract][Full Text] [Related]
17. Nephrogenic diabetes insipidus.
Bichet DG
Adv Chronic Kidney Dis; 2006 Apr; 13(2):96-104. PubMed ID: 16580609
[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]
