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
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
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
Zang L et al.
Biomed Research International, 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
Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2.
Huang L et al.
Frontiers in Pediatrics, 2021
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Ding C et al.
American Journal of Medical Genetics. Part A, 2020
Evaluation of pharmacochaperone-mediated rescue of mutant V2 receptor proteins.
Erdem Tuncdemir B et al.
European Journal of Pharmacology, 2019
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.
Erdem B et al.
Endocrine Connections, 2018
Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.
Makita N et al.
The Journal of Biological Chemistry, 2016
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A et al.
European Journal of Pediatrics, 2015
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D et al.
Endocrine, 2012