ArticleJournal of the American Society of Nephrology : JASN2012
Identification and characterization of an activating F229V substitution in the V2 vasopressin receptor in an infant with NSIAD.
Article in Journal of the American Society of Nephrology : JASN, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 66 citations in OpenAlex.
- Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.Nephrology (Carlton, Vic.) · 2026Article
- Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor.Journal of applied genetics · 2025Article
- Inactive structures of the vasopressin V2 receptor reveal distinct binding modes for Tolvaptan and Mambaquaretin toxin.Nature communications · 2025Article
- The biology of water homeostasis.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Review
- Cryo-electron microscopy for GPCR research and drug discovery in endocrinology and metabolism.Nature reviews. Endocrinology · 2024Review
- β-Arrestin-dependent and -independent endosomal G protein activation by the vasopressin type 2 receptor.eLife · 2023Article
- β-arrestin-dependent and -independent endosomal G protein activation by the vasopressin type 2 receptor.bioRxiv : the preprint server for biology · 2023Article
- V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.Frontiers in endocrinology · 2023Review
- Clinical, Genetic and Functional Characterization of a NovelJournal of personalized medicine · 2022Article
- Development of enhanced conformational sampling methods to probe the activation landscape of GPCRs.Advances in protein chemistry and structural biology · 2022Review
- Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.Biochimica et biophysica acta. Molecular basis of disease · 2021Review
- Apelin and Vasopressin: The Yin and Yang of Water Balance.Frontiers in endocrinology · 2021Review
- Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.Scientific reports · 2020Article
- Article
- A snake toxin as a theranostic agent for the type 2 vasopressin receptor.Theranostics · 2020Article
- 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.Pflugers Archiv : European journal of physiology · 2019Article
- Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later.Pediatric nephrology (Berlin, Germany) · 2019Review
- Germline-Derived Gain-of-Function Variants of GsJournal of the American Society of Nephrology : JASN · 2019Article
- Vasopressin-aquaporin-2 pathway: recent advances in understanding water balance disorders.F1000Research · 2019Review
- Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.Endocrine connections · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Gain-of-function mutations in the gene encoding the V2 vasopressin receptor (V2R) cause nephrogenic syndrome of inappropriate antidiuresis. To date, reported mutations lead to the substitution of arginine 137 by either a cysteine or leucine (R137C/L). Here, we describe a 3-month-old hyponatremic infant found to have a phenylalanine 229 to valine (F229V) substitution in V2R. Characterization of this substitution in vitro revealed that it leads to high constitutive activity of the receptor, compatible with spontaneous antidiuresis. In contrast to R137C/L mutant receptors, F229V receptors do not undergo spontaneous desensitization, which results in sustained, high basal activity. Notably, the V2R-selective inverse agonists tolvaptan and satavaptan completely silenced the constitutive signaling activity of the F229V mutant receptor, indicating that this substitution does not lock the receptor in an irreversible active state. Thus, inverse agonists might prove to be effective therapies for treating patients with this or other spontaneously activating mutations that do not lock the V2R in its active state. These results emphasize the importance of genetic testing and the functional characterization of mutant receptors for patients with nephrogenic syndrome of inappropriate antidiuresis because the results might inform treatment decisions.
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