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Items: 1 to 20 of 96

1.

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. Epub 2006 Dec 28.

PMID:
17192724
2.

Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus.

Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V.

Endocrine. 2008 Apr;33(2):210-4. doi: 10.1007/s12020-008-9074-x. Epub 2008 May 13.

PMID:
18473191
3.

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.

Guyon C, Lussier Y, Bissonnette P, Leduc-Nadeau A, Lonergan M, Arthus MF, Perez RB, Tiulpakov A, Lapointe JY, Bichet DG.

Am J Physiol Renal Physiol. 2009 Aug;297(2):F489-98. doi: 10.1152/ajprenal.90589.2008. Epub 2009 May 20.

4.

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y.

J Korean Med Sci. 2005 Dec;20(6):1076-8.

5.

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.

6.

Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.

Moon SS, Kim HJ, Choi YK, Seo HA, Jeon JH, Lee JE, Lee JY, Kwon TH, Kim JG, Kim BW, Lee IK.

Endocr J. 2009;56(7):905-10. Epub 2009 May 20.

7.

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group.

Eur J Pediatr. 2015 Oct;174(10):1373-85. doi: 10.1007/s00431-015-2534-4. Epub 2015 Apr 23.

PMID:
25902753
8.

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
9.

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ.

Hum Mol Genet. 1997 Oct;6(11):1865-71.

PMID:
9302264
10.

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.

Dollerup P, Thomsen TM, Nejsum LN, Færch M, Österbrand M, Gregersen N, Rittig S, Christensen JH, Corydon TJ.

BMC Nephrol. 2015 Dec 29;16:217. doi: 10.1186/s12882-015-0213-3.

11.

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.

12.

Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, Shinbo I, Uchida S, Terada Y, Arthus MF, Lonergan M, Fujiwara TM, Bichet DG, Marumo F, Sasaki S.

Am J Hum Genet. 2001 Oct;69(4):738-48. Epub 2001 Aug 30.

13.

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
14.

Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus.

Tsutsumi Z, Inokuchi T, Tamada D, Moriwaki Y, Ka T, Takahashi S, Yamamoto T.

Intern Med. 2009;48(6):437-40. Epub 2009 Mar 16.

15.

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.

16.

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.

17.

Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.

Marr N, Kamsteeg EJ, van Raak M, van Os CH, Deen PM.

Pflugers Arch. 2001 Apr;442(1):73-7.

PMID:
11374071
18.

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.

PMID:
15509592
19.

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.

Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):193-7. doi: 10.1515/jpem-2013-0097.

PMID:
23950570
20.

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