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Items: 1 to 20 of 129

1.

Diabetes insipidus in mice with a mutation in aquaporin-2.

Lloyd DJ, Hall FW, Tarantino LM, Gekakis N.

PLoS Genet. 2005 Aug;1(2):e20. Epub 2005 Aug 19.

2.

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.

3.

Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.

Shi PP, Cao XR, Qu J, Volk KA, Kirby P, Williamson RA, Stokes JB, Yang B.

Am J Physiol Renal Physiol. 2007 May;292(5):F1334-44. Epub 2007 Jan 16.

4.

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, Marr N, Arthus MF, Lonergan M, van Os CH, van der Sluijs P, Robertson G, Deen PM.

Hum Mol Genet. 2004 Dec 15;13(24):3045-56. Epub 2004 Oct 27.

5.
6.

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. doi: 10.1002/humu.21082.

PMID:
19585583
7.

Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus.

Yang B, Gillespie A, Carlson EJ, Epstein CJ, Verkman AS.

J Biol Chem. 2001 Jan 26;276(4):2775-9. Epub 2000 Oct 16.

8.

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. Epub 2005 Aug 24.

9.

Nephrogenic diabetes insipidus.

Bichet DG.

Adv Chronic Kidney Dis. 2006 Apr;13(2):96-104. Review.

PMID:
16580609
10.

V2R mutations and nephrogenic diabetes insipidus.

Bichet DG.

Prog Mol Biol Transl Sci. 2009;89:15-29. doi: 10.1016/S1877-1173(09)89002-9. Epub 2009 Oct 7. Review.

PMID:
20374732
11.

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.

Sasaki S, Chiga M, Kikuchi E, Rai T, Uchida S.

Clin Exp Nephrol. 2013 Jun;17(3):338-44. doi: 10.1007/s10157-012-0726-z. Epub 2012 Nov 14.

PMID:
23150186
12.

Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.

Yang B, Zhao D, Verkman AS.

FASEB J. 2009 Feb;23(2):503-12. doi: 10.1096/fj.08-118422. Epub 2008 Oct 14.

13.

Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus.

Levin MH, Haggie PM, Vetrivel L, Verkman AS.

J Biol Chem. 2001 Jun 15;276(24):21331-6. Epub 2001 Apr 10.

14.

New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.

Leduc-Nadeau A, Lussier Y, Arthus MF, Lonergan M, Martinez-Aguayo A, Riveira-Munoz E, Devuyst O, Bissonnette P, Bichet DG.

J Physiol. 2010 Jun 15;588(Pt 12):2205-18. doi: 10.1113/jphysiol.2010.187674. Epub 2010 Apr 19.

15.
16.

Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.

Kamsteeg EJ, Deen PM, van Os CH.

Exp Nephrol. 2000 Nov-Dec;8(6):326-31. Review.

PMID:
11014929
17.

Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation.

Sohara E, Rai T, Yang SS, Uchida K, Nitta K, Horita S, Ohno M, Harada A, Sasaki S, Uchida S.

Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14217-22. Epub 2006 Sep 12.

18.

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Loonen AJ, Knoers NV, van Os CH, Deen PM.

Semin Nephrol. 2008 May;28(3):252-65. doi: 10.1016/j.semnephrol.2008.03.006. Review.

PMID:
18519086
19.

Congenital nephrogenic diabetes insipidus: what can we learn from mouse models?

Boone M, Deen PM.

Exp Physiol. 2009 Feb;94(2):186-90. doi: 10.1113/expphysiol.2008.043000. Epub 2008 Sep 12. Review.

20.

Physiopathology and diagnosis of nephrogenic diabetes insipidus.

Devuyst O.

Ann Endocrinol (Paris). 2012 Apr;73(2):128-9. doi: 10.1016/j.ando.2012.03.032. Epub 2012 Apr 13. Review.

PMID:
22503803
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