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
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.
Chen X et al.
American Journal of Medical Genetics. Part A, 2024
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
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations.
Satoh M et al.
Endocrine Journal, 2008
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