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
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
Li Q et al.
Journal of Endocrinological Investigation, 2021
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
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
Yoo TH et al.
Yonsei Medical Journal, 2006
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
Pasel K et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.
van Lieburg AF et al.
Journal of the American Society of Nephrology : Jasn, 1999
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
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
Knoers NV et al.
Kidney International, 1994