198 related articles for article (PubMed ID: 16361827)
21. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C; Higgins PJ; Zhang W
Cells; 2020 Sep; 9(10):. PubMed ID: 32993088
[TBL] [Abstract][Full Text] [Related]
22. Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
Kotnik P; Battelino T; Debeljak M; Podkrajsek KT; Waldhauser F; Frøkiaer J; Nielsen S; Krzisnik C
J Pediatr Endocrinol Metab; 2007 Apr; 20(4):483-9. PubMed ID: 17550212
[TBL] [Abstract][Full Text] [Related]
23. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
Iolascon A; Aglio V; Tamma G; D'Apolito M; Addabbo F; Procino G; Simonetti MC; Montini G; Gesualdo L; Debler EW; Svelto M; Valenti G
Nephron Physiol; 2007; 105(3):p33-41. PubMed ID: 17192724
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Nephrogenic diabetes insipidus.
Morello JP; Bichet DG
Annu Rev Physiol; 2001; 63():607-30. PubMed ID: 11181969
[TBL] [Abstract][Full Text] [Related]
26. Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH; Deen PM
Proc Assoc Am Physicians; 1998; 110(5):395-400. PubMed ID: 9756089
[TBL] [Abstract][Full Text] [Related]
27. Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.
Park YJ; Baik HW; Cheong HI; Kang JH
Biomed Rep; 2014 Jul; 2(4):596-598. PubMed ID: 24944815
[TBL] [Abstract][Full Text] [Related]
28. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.
Boccalandro C; De Mattia F; Guo DC; Xue L; Orlander P; King TM; Gupta P; Deen PM; Lavis VR; Milewicz DM
J Am Soc Nephrol; 2004 May; 15(5):1223-31. PubMed ID: 15100362
[TBL] [Abstract][Full Text] [Related]
29. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus.
Trimpert C; van den Berg DT; Fenton RA; Klussmann E; Deen PM
Nephrol Dial Transplant; 2012 Dec; 27(12):4389-97. PubMed ID: 22778181
[TBL] [Abstract][Full Text] [Related]
30. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
Rocha JL; Friedman E; Boson W; Moreira A; Figueiredo B; Liberman B; de Lacerda L; Sandrini R; Graf H; Martins S; Puñales MK; De Marco L
Hum Mutat; 1999; 14(3):233-9. PubMed ID: 10477431
[TBL] [Abstract][Full Text] [Related]
31. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N; Bichet DG; Hoefs S; Savelkoul PJ; Konings IB; De Mattia F; Graat MP; Arthus MF; Lonergan M; Fujiwara TM; Knoers NV; Landau D; Balfe WJ; Oksche A; Rosenthal W; Müller D; Van Os CH; Deen PM
J Am Soc Nephrol; 2002 Sep; 13(9):2267-77. PubMed ID: 12191971
[TBL] [Abstract][Full Text] [Related]
32. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
Faerch M; Christensen JH; Corydon TJ; Kamperis K; de Zegher F; Gregersen N; Robertson GL; Rittig S
Clin Endocrinol (Oxf); 2008 Mar; 68(3):395-403. PubMed ID: 17941907
[TBL] [Abstract][Full Text] [Related]
33. A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2.
Ma L; Wu D; Wang X; Yang Y
Front Pediatr; 2020; 8():15. PubMed ID: 32083042
[TBL] [Abstract][Full Text] [Related]
34. A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus.
Bircan Z; Karacayir N; Cheong HI
Pediatr Nephrol; 2008 Apr; 23(4):663-5. PubMed ID: 18040725
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
Carroll P; Al-Mojalli H; Al-Abbad A; Al-Hassoun I; Al-Hamed M; Al-Amr R; Butt AI; Meyer BF
Genet Med; 2006 Jul; 8(7):443-7. PubMed ID: 16845277
[TBL] [Abstract][Full Text] [Related]
37. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
de Mattia F; Savelkoul PJ; Kamsteeg EJ; Konings IB; van der Sluijs P; Mallmann R; Oksche A; Deen PM
J Am Soc Nephrol; 2005 Oct; 16(10):2872-80. PubMed ID: 16120822
[TBL] [Abstract][Full Text] [Related]
38. Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Kor Y; Zou M; Al-Rijjal RA; Monies D; Meyer BF; Shi Y
BMC Med Genet; 2018 Jul; 19(1):115. PubMed ID: 29996815
[TBL] [Abstract][Full Text] [Related]
39. Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
Long BC; Weber ZJ; Oberlin JM; Sutter DE; Berg JM
J Pediatr Endocrinol Metab; 2019 Sep; 32(9):1031-1034. PubMed ID: 31348762
[TBL] [Abstract][Full Text] [Related]
40. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
Savelkoul PJ; De Mattia F; Li Y; Kamsteeg EJ; Konings IB; van der Sluijs P; Deen PM
Hum Mutat; 2009 Oct; 30(10):E891-903. PubMed ID: 19585583
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]