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Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a cell-based assay to assess constitutive water reabsorption.
Ranieri M, Tamma G, Pellegrino T, Vezzi V, Ambrosio C, Grò C, Di Mise A, Costa T, Valenti G, Cotecchia S. Ranieri M, et al. Pflugers Arch. 2019 Oct;471(10):1291-1304. doi: 10.1007/s00424-019-02307-x. Epub 2019 Sep 5. Pflugers Arch. 2019. PMID: 31486901
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently identified chromosome X-linked disease associated with gain-of-function mutations of the V2 vasopressin receptor (V2R), a G-protein-coupled receptor. ...Our findings indica …
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently identified chromosome X-linked d …
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
Marcialis MA, Faà V, Fanos V, Puddu M, Pintus MC, Cao A, Rosatelli MC. Marcialis MA, et al. Pediatr Nephrol. 2008 Dec;23(12):2267-71. doi: 10.1007/s00467-008-0913-z. Epub 2008 Jul 12. Pediatr Nephrol. 2008. PMID: 18622631
This is the fourth case of this syndrome reported to date, and the first to be reported in a neonate. The clinical features resemble those typically observed in patients with inappropriate antidiuretic hormone secretion, although high arginine vasopressin (AVP) levels are …
This is the fourth case of this syndrome reported to date, and the first to be reported in a neonate. The clinical features resemble those t …
Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis.
Kocan M, See HB, Sampaio NG, Eidne KA, Feldman BJ, Pfleger KD. Kocan M, et al. Mol Endocrinol. 2009 Apr;23(4):559-71. doi: 10.1210/me.2008-0321. Epub 2009 Jan 29. Mol Endocrinol. 2009. PMID: 19179480 Free PMC article.
Nephrogenic syndrome of inappropriate antidiuresis is a recently identified genetic disease first described in two unrelated male infants with severe symptomatic hyponatremia. ...Using bioluminescence resonance energy transfer and confocal micro …
Nephrogenic syndrome of inappropriate antidiuresis is a recently identified genetic disease first describ …
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. Armstrong SP, et al. PLoS One. 2013 Jun 6;8(6):e65885. doi: 10.1371/journal.pone.0065885. Print 2013. PLoS One. 2013. PMID: 23762448 Free PMC article.
Typically, loss-of-function V2R mutations cause nephrogenic diabetes insipidus (NDI), whereas gain-of-function mutations cause nephrogenic syndrome of inappropriate antidiuresis (NSIAD). Here we provide further characterization of two mutant V2R …
Typically, loss-of-function V2R mutations cause nephrogenic diabetes insipidus (NDI), whereas gain-of-function mutations cause nephrogeni …
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Cavarzere P, Gastaldi A, Elli FM, Gaudino R, Peverelli E, Brugnara M, Thiele S, Granata F, Mantovani G, Antoniazzi F. Cavarzere P, et al. Orphanet J Rare Dis. 2022 Feb 23;17(1):83. doi: 10.1186/s13023-022-02252-6. Orphanet J Rare Dis. 2022. PMID: 35197096 Free PMC article.
For the molecular analysis of GNAS gene, DNA samples of the proband and her parents were extracted from their peripheral blood samples. In silico analysis was performed to predict the possible in vivo effect of the detected novel genetic variant. ...Clinically our patient …
For the molecular analysis of GNAS gene, DNA samples of the proband and her parents were extracted from their peripheral blood samples. In s …
Lack of responsiveness to 1-desamino-D arginin vasopressin (desmopressin) in male patients with nephrogenic syndrome of inappropriate antidiuresis: from bench to bedside.
Vandergheynst F, Pradier O, Beukinga I, Kornreich A, Vassart G, Decaux G. Vandergheynst F, et al. Eur J Clin Invest. 2012 Mar;42(3):254-9. doi: 10.1111/j.1365-2362.2011.02576.x. Epub 2011 Aug 11. Eur J Clin Invest. 2012. PMID: 21834801
BACKGROUND: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described entity, linked to gain-of-function mutations (R137C and R137L) in arginine vasopressin (AVP) gene leading to chronic activation of tubular V2 AVP rece …
BACKGROUND: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described entity, li …