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_MOESM4_ESM.xlsx › Fig._1b
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A et al.
European Journal of Pediatrics, 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
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Arthus MF et al.
Journal of the American Society of Nephrology : Jasn, 2000
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
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