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Items: 1 to 20 of 87

1.

Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI.

Shida Y, Matsuoka H, Chiga M, Uchida S, Sasaki S, Sugihara S.

Pediatr Int. 2013 Feb;55(1):105-7. doi: 10.1111/j.1442-200X.2012.03614.x.

PMID:
23409988
2.

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
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

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
9.

Nephrogenic diabetes insipidus.

Bichet DG.

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

PMID:
16580609
10.
11.

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.

12.

Differential diagnosis of hereditary nephrogenic diabetes insipidus with desmopressin infusion test.

Bircan Z, Mutlu H, Cheong HI.

Indian J Pediatr. 2010 Nov;77(11):1329-31. doi: 10.1007/s12098-010-0181-3. Epub 2010 Sep 3.

PMID:
20814834
13.

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.

15.

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. doi: 10.1093/ndt/gfs292. Epub 2012 Jul 9.

PMID:
22778181
16.

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH, Knoers NV, Deen PM.

Am J Physiol Renal Physiol. 2006 Aug;291(2):F257-70. Review.

17.

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
18.

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM.

J Clin Invest. 1998 Jul 1;102(1):57-66.

19.

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.

20.

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. Epub 2007 Nov 27.

PMID:
18040725

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