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
Clinical and genetic analysis of X-linked nephrogenic diabetes insipidus caused by a novel AVPR2 mutation (NM_000054.6:exon3:c.245G>A (p.Cys82Tyr)) in a Chinese boy.
Yang J et al.
Intractable & Rare Diseases Research, 2025
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
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
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 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
Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.
Robben JH et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007
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
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
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 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
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
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
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
Effect of mutations in putative hormone binding sites on V2 vasopressin receptor function.
Sebti Y et al.
Research in Pharmaceutical Sciences, 0
Study of V2 vasopressin receptor hormone binding site using in silico methods.
Sebti Y et al.
Research in Pharmaceutical Sciences, 0