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Items: 1 to 20 of 142

1.

Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

Joshi S, Kvistgaard H, Kamperis K, Færch M, Hagstrøm S, Gregersen N, Rittig S, Christensen JH.

Eur J Pediatr. 2018 Sep;177(9):1399-1405. doi: 10.1007/s00431-018-3132-z. Epub 2018 Mar 28.

PMID:
29594432
2.
3.

Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.

Makita N, Sato T, Yajima-Shoji Y, Sato J, Manaka K, Eda-Hashimoto M, Ootaki M, Matsumoto N, Nangaku M, Iiri T.

J Biol Chem. 2016 Oct 21;291(43):22460-22471. Epub 2016 Sep 6.

4.

[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].

Dai Z, Ruan L, Jin J, Qian Y, Wang L, Shi Z, Wu C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):666-9. doi: 10.3760/cma.j.issn.1003-9406.2016.05.019. Chinese.

PMID:
27577218
5.

A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.

Guo WH, Li Q, Wei HY, Lu HY, Qu HQ, Zhu M.

J Int Med Res. 2016 Oct;44(5):1131-1137. doi: 10.1177/0300060516655642. Epub 2016 Sep 27.

6.

Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.

Tiulpakov A, White CW, Abhayawardana RS, See HB, Chan AS, Seeber RM, Heng JI, Dedov I, Pavlos NJ, Pfleger KD.

Mol Endocrinol. 2016 Aug;30(8):889-904. doi: 10.1210/me.2016-1002. Epub 2016 Jun 29.

7.

A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.

Hinrichs GR, Hansen LH, Nielsen MR, Fagerberg C, Dieperink H, Rittig S, Jensen BL.

Physiol Rep. 2016 Apr;4(8). pii: e12764. doi: 10.14814/phy2.12764.

8.

Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.

Yamashita S, Hata A, Usui T, Oda H, Hijikata A, Shirai T, Kaneko N, Hata D.

J Pediatr Endocrinol Metab. 2016 May 1;29(5):591-6. doi: 10.1515/jpem-2015-0323.

PMID:
26974133
9.

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. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21.

PMID:
26795631
10.

An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.

Giri D, Hart R, Jones C, Ellis I, Ramakrishnan R.

J Pediatr Endocrinol Metab. 2016 Jan;29(1):93-6. doi: 10.1515/jpem-2015-0174.

PMID:
26244674
11.

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

Erdélyi LS, Mann WA, Morris-Rosendahl DJ, Groß U, Nagel M, Várnai P, Balla A, Hunyady L.

Kidney Int. 2015 Nov;88(5):1070-8. doi: 10.1038/ki.2015.181. Epub 2015 Jul 1.

PMID:
26131744
12.

Characterization of the effects of the vasopressin V2 receptor on sweating, fluid balance, and performance during exercise.

Hew-Butler T, Hummel J, Rider BC, Verbalis JG.

Am J Physiol Regul Integr Comp Physiol. 2014 Aug 15;307(4):R366-75. doi: 10.1152/ajpregu.00120.2014. Epub 2014 Jun 18.

13.

Vasopressin-2 receptor signaling and autosomal dominant polycystic kidney disease: from bench to bedside and back again.

Rinschen MM, Schermer B, Benzing T.

J Am Soc Nephrol. 2014 Jun;25(6):1140-7. doi: 10.1681/ASN.2013101037. Epub 2014 Feb 20. Review.

14.

A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

Saglar E, Deniz F, Erdem B, Karaduman T, Yönem A, Cagiltay E, Mergen H.

Endocrine. 2014 May;46(1):148-53. doi: 10.1007/s12020-013-0043-7. Epub 2013 Sep 13.

PMID:
24026507
15.

Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).

Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD.

PLoS One. 2013 Jun 6;8(6):e65885. doi: 10.1371/journal.pone.0065885. Print 2013.

16.

Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level.

Fu Y, Cheetham T, Bourn D, Orwoll E, Cohen DM.

Physiol Genomics. 2013 Mar 18;45(6):210-6. doi: 10.1152/physiolgenomics.00161.2012. Epub 2013 Jan 29.

17.

Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

Anesi L, de Gemmis P, Galla D, Hladnik U.

Nephrol Dial Transplant. 2012 Oct;27(10):3705-12. doi: 10.1093/ndt/gfs359. Epub 2012 Aug 9. Review.

PMID:
22879391
18.

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. doi: 10.1016/j.metabol.2012.01.005. Epub 2012 Mar 3. Review.

PMID:
22386940
19.

A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.

Huang L, Li W, Tang W, Lu G.

J Pediatr Endocrinol Metab. 2011;24(9-10):807-9.

PMID:
22145481
20.

V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.

Takahashi K, Makita N, Manaka K, Hisano M, Akioka Y, Miura K, Takubo N, Iida A, Ueda N, Hashimoto M, Fujita T, Igarashi T, Sekine T, Iiri T.

J Biol Chem. 2012 Jan 13;287(3):2099-106. doi: 10.1074/jbc.M111.268797. Epub 2011 Dec 5.

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