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
Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.
Manoel D et al.
American Journal of Physiology. Endocrinology and Metabolism, 2025
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Bockenhauer D et al.
Nature Reviews. Nephrology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus.
Daitsu T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2014
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Hereditary polyuric disorders: new concepts and differential diagnosis.
Bichet DG
Seminars in Nephrology, 2006
Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.
Schulz A et al.
The Journal of Biological Chemistry, 2000
A novel mutation in the vasopressin V2 receptor gene in a woman with congenital nephrogenic diabetes insipidus.
Sato K et al.
Internal Medicine (tokyo, Japan), 1999
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 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
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
Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
Rosenthal W et al.
Cellular and Molecular Biology (noisy-le-grand, France), 1994
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.
Bichet DG et al.
The Journal of Clinical Investigation, 1993