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
Structural plasticity of arrestin-G protein coupled receptor complexes as a molecular determinant of signaling.
Felline A et al.
International Journal of Biological Macromolecules, 2024
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
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
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
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
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
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 Diabetes Insipidus.
Balla A et al.
Experientia Supplementum (2012), 2019
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
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
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
Erdélyi LS et al.
Kidney International, 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
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
[Ullrich-Feichtiger syndrome in a 3-year-old boy].
Mazur B et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 0