PMC Articles for MedGen (Select 336877) - PMC

Moulay D. Rochdi, Gabriel A. Vargas, Eric Carpentier, Geneviève Oligny-Longpré, Stanford Chen, Abraham Kovoor, Stephen E. Gitelman, Stephen M. Rosenthal, Mark von Zastrow, Michel Bouvier

Mol Pharmacol. 2010 May; 77(5): 836–845. doi: 10.1124/mol.109.061804

PMCID:: PMC2872969

Abstract Article PDF–1.2M

Select item 32992225.

Nephrogenic Syndrome of Inappropriate Antidiuresis

D. Morin, J. Tenenbaum, B. Ranchin, T. Durroux

Int J Pediatr. 2012; 2012: 937175. Published online 2012 Feb 28. doi: 10.1155/2012/937175

PMCID:: PMC3299222

Abstract Article PDF–446K

Select item 32995836.

Persistent elevation of urine aquaporin-2 during water loading in a child with nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a R137L mutation in the V2 vasopressin receptor

Clement C Cheung, Melissa A Cadnapaphornchai, Sayali A Ranadive, Stephen E Gitelman, Stephen M Rosenthal

Int J Pediatr Endocrinol. 2012; 2012(1): 3. Published online 2012 Feb 10. doi: 10.1186/1687-9856-2012-3

PMCID:: PMC3299583

Abstract Article PDF–608K

Select item 53401847.

Nephrogenic Syndrome of Inappropriate Antidiuresis

Brian J. Feldman, Stephen M. Rosenthal, Gabriel A. Vargas, Raymond G. Fenwick, Eric A. Huang, Mina Matsuda-Abedini, Robert H. Lustig, Robert S. Mathias, Anthony A. Portale, Walter L. Miller, Stephen E. Gitelman

N Engl J Med. Author manuscript; available in PMC 2017 Mar 7.

Published in final edited form as: N Engl J Med. 2005 May 5; 352(18): 1884–1890. doi: 10.1056/NEJMoa042743

PMCID:: PMC5340184

Abstract Article PDF–499K

Select item 58137128.

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Jennifer Hague, Ruth Casey, Jonathan Bruty, Tom Legerton, Stephen Abbs, Susan Oddy, Andrew S Powlson, Mohamed Majeed, Mark Gurnell, Soo-Mi Park, Helen Simpson

Endocrinol Diabetes Metab Case Rep. 2018; 2018: 17-0139. Published online 2018 Feb 9. doi: 10.1530/EDM-17-0139

PMCID:: PMC5813712

Abstract Article PDF–234K

Select item 58869269.

A case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine

Naoko Sekiya, Midori Awazu

CEN Case Rep. 2018 May; 7(1): 66–68. Published online 2017 Dec 27. doi: 10.1007/s13730-017-0295-9

PMCID:: PMC5886926

Abstract Article PDF–714K

Select item 649398210.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis

Mami Miyado, Maki Fukami, Shuji Takada, Miho Terao, Kazuhiko Nakabayashi, Kenichiro Hata, Yoichi Matsubara, Yoko Tanaka, Goro Sasaki, Keisuke Nagasaki, Masaaki Shiina, Kazuhiro Ogata, Youhei Masunaga, Hirotomo Saitsu, Tsutomu Ogata

J Am Soc Nephrol. 2019 May; 30(5): 877–889. Published online 2019 Apr 8. doi: 10.1681/ASN.2018121268

PMCID:: PMC6493982

Abstract Article

Select item 662008811.

Syndrome d’antidiurèse inappropriée néphrogénique

Benabdellah Nawal, Hassan Izzedine, Intissar Haddiya, Yassamine Bentata

Pan Afr Med J. 2019; 32: 210. French. Publication en ligne 2019 avr. 29. DOI : 10.11604/pamj.2019.32.210.6006

PMCID:: PMC6620088

Abstract Article PDF–514K

Select item 727262312.

Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors

Vanessa Vezzi, Caterina Ambrosio, Maria Cristina Grò, Paola Molinari, Gökçe Süral, Tommaso Costa, H. Ongun Onaran, Susanna Cotecchia

Sci Rep. 2020; 10: 9111. Published online 2020 Jun 4. doi: 10.1038/s41598-020-65996-w

PMCID:: PMC7272623

Abstract Article PDF–4.0M

Select item 734935913.

The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation

Marianna Ranieri, Maria Venneri, Tommaso Pellegrino, Mariangela Centrone, Annarita Di Mise, Susanna Cotecchia, Grazia Tamma, Giovanna Valenti

Cells. 2020 Jun; 9(6): 1354. Published online 2020 May 29. doi: 10.3390/cells9061354

PMCID:: PMC7349359

Abstract Article PDF–3.4M

Select item 279272114.

The Constitutively Active V2 Receptor Mutants Conferring NSIAD Are Weakly Sensitive to Agonist and Antagonist Regulation

Julie Tenenbaum, Mohammed A. Ayoub, Sanja Perkovska, Anne-Laure Adra-Delenne, Christiane Mendre, Bruno Ranchin, Giamperro Bricca, Ghislaine Geelen, Bernard Mouillac, Thierry Durroux, Denis Morin

PLoS One. 2009; 4(12): e8383. Published online 2009 Dec 21. doi: 10.1371/journal.pone.0008383

PMCID:: PMC2792721

Abstract Article PDF–297K

Select item 345846215.

Identification and Characterization of an Activating F229V Substitution in the V2 Vasopressin Receptor in an Infant with NSIAD

Eric Carpentier, Larry A. Greenbaum, Driss Rochdi, Ravinder Abrol, William A. Goddard, III, Daniel G. Bichet, Michel Bouvier

J Am Soc Nephrol. 2012 Sep 28; 23(10): 1635–1640. Published online 2012 Sep 6. doi: 10.1681/ASN.2012010077

PMCID:: PMC3458462

Abstract Article

Select item 636438016.

Vasopressin–aquaporin-2 pathway: recent advances in understanding water balance disorders

Marianna Ranieri, Annarita Di Mise, Grazia Tamma, Giovanna Valenti

Version 1. F1000Res. 2019; 8: F1000 Faculty Rev-149. Published online 2019 Feb 4. doi: 10.12688/f1000research.16654.1

PMCID:: PMC6364380

Abstract Article PDF–1.2M

Select item 886761917.

A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

Cavarzere Paolo, Gastaldi Andrea, Francesca Marta Elli, Gaudino Rossella, Peverelli Erika, Brugnara Milena, Susanne Thiele, Granata Francesca, Mantovani Giovanna, Antoniazzi Franco

Orphanet J Rare Dis. 2022; 17: 83. Published online 2022 Feb 23. doi: 10.1186/s13023-022-02252-6