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
A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.
Li L et al.
International Medical Case Reports Journal, 2025
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
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
The vasopressin-aquaporin-2 pathway syndromes.
Valenti G et al.
Handbook of Clinical Neurology, 2021
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
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
Pharmacoperone rescue of vasopressin 2 receptor mutants reveals unexpected constitutive activity and coupling bias.
Janovick JA et al.
Plos One, 2017
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.
Tiulpakov A et al.
Molecular Endocrinology (baltimore, Md.), 2016
[Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
Gu F et al.
Zhonghua Yi Xue Za Zhi, 2002
[Ullrich-Feichtiger syndrome in a 3-year-old boy].
Mazur B et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 0