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
Therapeutic potentials of nonpeptidic V2R agonists for partial cNDI-causing V2R mutants.
Kuramoto R et al.
Plos One, 2024
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
Ishida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
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
A novel therapeutic effect of statins on nephrogenic diabetes insipidus.
Bonfrate L et al.
Journal of Cellular and Molecular Medicine, 2015
Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.
Fujimoto M et al.
Yonago Acta Medica, 2014
Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
Sasaki S et al.
Clinical and Experimental Nephrology, 2013
Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.
Moeller HB et al.
Endocrine Reviews, 2013
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
Neocleous V et al.
Metabolism: Clinical and Experimental, 2012
V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
Takahashi K et al.
The Journal of Biological Chemistry, 2012
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
Faerch M et al.
American Journal of Physiology. Renal Physiology, 2009
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
Faerch M et al.
Clinical Endocrinology, 2008
Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report.
Watanabe H et al.
Case Reports in Nephrology and Dialysis, 0