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
40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM10_ESM.xlsx › ED_Fig._3c
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
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
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
A novel polymorphism in the coding region of the vasopressin type 2 receptor gene.
Rocha JL et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 1997
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Current Opinion in Nephrology and Hypertension, 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
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
Select a paper to view details