Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
Mighell TL et al.
Nature Structural & Molecular Biology, 2025
Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor.
Szymanik-Grzelak H et al.
Journal of Applied Genetics, 2025
Novel signalling pathways in nephrogenic syndrome of inappropriate antidiuresis: functional implication of site-specific AQP2 phosphorylation.
Venneri M et al.
The Journal of Physiology, 2024
Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
Mammadova J et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.
Erdélyi LS et al.
Frontiers in Endocrinology, 2023
AQP2 trafficking in health and diseases: an updated overview.
Centrone M et al.
The International Journal of Biochemistry & Cell Biology, 2022
Aquaporin 2 regulation: implications for water balance and polycystic kidney diseases.
Olesen ETB et al.
Nature Reviews. Nephrology, 2021
Nephrogenic syndrome of inappropriate antidiuresis - An ethnically, genetically and phenotypically diverse disorder: First report in a Chinese adult and review of published cases.
Tong HF et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.
Wang L et al.
Scientific Reports, 2021
Cryo-electron microscopy structure of the antidiuretic hormone arginine-vasopressin V2 receptor signaling complex.
Bous J et al.
Science Advances, 2021
[Diagnosis and follow-up of 2 cases of pediatric nephrogenic syndrome of inappropriate antidiuresis resulting from activating mutation in AVPR2 and literature review].
Chen JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
The vasopressin-aquaporin-2 pathway syndromes.
Valenti G et al.
Handbook of Clinical Neurology, 2021
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.
Vezzi V et al.
Scientific Reports, 2020
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.
Ranieri M et al.
Cells, 2020
Common activation mechanism of class A GPCRs.
Zhou Q et al.
Elife, 2019
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 et al.
Pflugers Archiv : European Journal of Physiology, 2019
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later.
Bardanzellu F et al.
Pediatric Nephrology (berlin, Germany), 2019
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
Miyado M et al.
Journal of the American Society of Nephrology : Jasn, 2019
Vasopressin-aquaporin-2 pathway: recent advances in understanding water balance disorders.
Ranieri M et al.
F1000research, 2019
[Nephrogenic syndrome of inappropriate antidiuresis].
Nawal B et al.
The Pan African Medical Journal, 2019
Nephrogenic Diabetes Insipidus.
Balla A et al.
Experientia Supplementum (2012), 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).
Hague J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2018
[Nephrogenic syndrome of inappropriate antidiuresis: Early diagnosis avoids severe hyponatremia complications].
Cailleaux A et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2.
Powlson AS et al.
Clinical Endocrinology, 2016
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.
Tiulpakov A et al.
Molecular Endocrinology (baltimore, Md.), 2016
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 et al.
Physiological Reports, 2016
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
Erdélyi LS et al.
Kidney International, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females.
Brachet C et al.
Hormone Research in Paediatrics, 2015
The physiological and pathophysiological functions of renal and extrarenal vasopressin V2 receptors.
Juul KV et al.
American Journal of Physiology. Renal Physiology, 2014
Altered agonist sensitivity of a mutant v2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus.
Erdélyi LS et al.
Molecular Endocrinology (baltimore, Md.), 2014
Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level.
Fu Y et al.
Physiological Genomics, 2013
Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).
Armstrong SP et al.
Plos One, 2013
Identification and characterization of an activating F229V substitution in the V2 vasopressin receptor in an infant with NSIAD.
Carpentier E et al.
Journal of the American Society of Nephrology : Jasn, 2012
A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.
Bockenhauer D et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2012
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 et al.
European Journal of Clinical Investigation, 2012
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.
Cheung CC et al.
International Journal of Pediatric Endocrinology, 2012
Nephrogenic syndrome of inappropriate antidiuresis.
Morin D et al.
International Journal of Pediatrics, 2012