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
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
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.
Chen X et al.
American Journal of Medical Genetics. Part A, 2024
Refractory Massive Ascites: An Unusual Presentation of Nephrogenic Diabetes Insipidus.
Pezantes MI et al.
Kidney International Reports, 2022
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
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 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
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
G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.
Conn PM et al.
Pharmacological Reviews, 2007
Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.
Cheong HI et al.
Nephrology (carlton, Vic.), 2007
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
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
Karges B et al.
The Journal of Endocrinology, 2005
Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function.
Sangkuhl K et al.
Human Mutation, 2005
[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].
Ishikawa SE
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.
Morello JP et al.
Biochemistry, 2001
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
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
Corrigendum to: the role of conserved extracellular cysteine residues in vasopressin V2 receptor function and properties of two naturally occurring mutant receptors with additional extracellular cysteine residues.
Schulein R et al.
Febs Letters, 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
The role of conserved extracellular cysteine residues in vasopressin V2 receptor function and properties of two naturally occurring mutant receptors with additional extracellular cysteine residues.
Schülein R et al.
Febs Letters, 2000
Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.
Wildin RS et al.
Pediatrics, 1999
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
Ala Y et al.
Journal of the American Society of Nephrology : Jasn, 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
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.
Vargas-Poussou R et al.
Advances in Experimental Medicine and Biology, 1998
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji Y et al.
Human Mutation, 1998
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
Schöneberg T et al.
Human Mutation, 1998
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 1997
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
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.
Nomura Y et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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