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
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
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
Chen CH et al.
Journal of Human Genetics, 2002
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Congenital nephrogenic diabetes insipidus.
Bichet DG et al.
Journal of the American Society of Nephrology : Jasn, 1997
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin.
Pan Y et al.
The Journal of Biological Chemistry, 1994
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
Faà V et al.
Human Molecular Genetics, 1994
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.
Bichet DG et al.
The Journal of Clinical Investigation, 1993
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
Mutations and diseases of G protein coupled receptors.
Birnbaumer M
Journal of Receptor and Signal Transduction Research, 0