Associated Papers
CANDID Study: Clinical and Molecular Characterization of Congenital Arginine Vasopressin-Resistance and the Use of a Novel Diagnostic Biomarker in Indian Children.
Banerjee S et al.
Indian Journal of Pediatrics, 2026
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
Phenotype and renal outcomes of patients with congenital arginine vasopressin-resistance.
Tseng MH et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
Erdem Tuncdemir B
Journal of Receptor and Signal Transduction Research, 2022
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
Li Q et al.
Journal of Endocrinological Investigation, 2021
Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.
Wang L et al.
Scientific Reports, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2 (c.541C>T) in a neonate: A case report.
Lin FT et al.
World Journal of Clinical Cases, 2020
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.
Liu JS et al.
Molecular Syndromology, 2020
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.
Tiulpakov A et al.
Molecular Endocrinology (baltimore, Md.), 2016
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A et al.
European Journal of Pediatrics, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
Sahakitrungruang T et al.
Hormone Research in Paediatrics, 2010
Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.
Robben JH et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2006
Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2005
Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function.
Sangkuhl K et al.
Human Mutation, 2005
Functional rescue of the nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants G185C and R202C by a second site suppressor mutation.
Schülein R et al.
The Journal of Biological Chemistry, 2001
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.
Inaba S et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
[From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
Knoers NV et al.
Nederlands Tijdschrift Voor Geneeskunde, 2000
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
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
Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.
Schulz A et al.
The Journal of Biological Chemistry, 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
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
[Vasopressin type 2 receptor mutations in congenital diabetes insipidus].
Tsukaguchi H et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
Schöneberg T et al.
Human Mutation, 1998
Congenital nephrogenic diabetes insipidus.
Bichet DG et al.
Journal of the American Society of Nephrology : Jasn, 1997
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
Sadeghi H et al.
Molecular Endocrinology (baltimore, Md.), 1997
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Current Opinion in Nephrology and Hypertension, 1996
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Tsukaguchi H et al.
The Journal of Clinical Investigation, 1995
Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.
Tsukaguchi H et al.
Kidney International, 1995
The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin.
Pan Y et al.
The Journal of Biological Chemistry, 1994
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
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet DG et al.
American Journal of Human Genetics, 1994
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
Knoers NV et al.
Kidney International, 1994
Hereditary and acquired defects in signaling through the hormone-receptor-G protein complex.
Raymond JR
The American Journal of Physiology, 1994
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.
Bichet DG et al.
The Journal of Clinical Investigation, 1993