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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
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
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Evaluation of pharmacochaperone-mediated rescue of mutant V2 receptor proteins.
Erdem Tuncdemir B et al.
European Journal of Pharmacology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic regulation of plasma von Willebrand factor levels in health and disease.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.
Moeller HB et al.
Endocrine Reviews, 2013
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D et al.
Endocrine, 2012
Lack of responsiveness to 1-desamino-D arginin vasopressin (desmopressin) in male patients with nephrogenic syndrome of inappropriate antidiuresis: from bench to bedside.
Vandergheynst F et al.
European Journal of Clinical Investigation, 2012
Functional variation in the arginine vasopressin 2 receptor as a modifier of human plasma von Willebrand factor levels.
Nossent AY et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
Catalog of 178 variations in the Japanese population among eight human genes encoding G protein-coupled receptors (GPCRs).
Saito S et al.
Journal of Human Genetics, 2003
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
Rocha JL et al.
Human Mutation, 1999
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994
Effect of mutations in putative hormone binding sites on V2 vasopressin receptor function.
Sebti Y et al.
Research in Pharmaceutical Sciences, 0
Study of V2 vasopressin receptor hormone binding site using in silico methods.
Sebti Y et al.
Research in Pharmaceutical Sciences, 0