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
Biased activation of the vasopressin V2 receptor probed by molecular dynamics simulations, NMR and pharmacological studies.
Fouillen A et al.
Computational and Structural Biotechnology Journal, 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
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
Vasopressin-aquaporin-2 pathway: recent advances in understanding water balance disorders.
Ranieri M et al.
F1000research, 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
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
[Ullrich-Feichtiger syndrome in a 3-year-old boy].
Mazur B et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 0