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 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
Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.
Fujimoto M et al.
Yonago Acta Medica, 2014
Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).
Armstrong SP et al.
Plos One, 2013
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
Böselt I et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
Sakallioglu O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo.
Sangkuhl K et al.
Human Molecular Genetics, 2004
Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.
Schulz A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002