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
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Bhatia S et al.
European Journal of Human Genetics : Ejhg, 2024
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Derlin-1 and p97/valosin-containing protein mediate the endoplasmic reticulum-associated degradation of human V2 vasopressin receptors.
Schwieger I et al.
Molecular Pharmacology, 2008
Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides.
Oueslati M et al.
The Journal of Biological Chemistry, 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
The hydrophobic amino acid residues in the membrane-proximal C tail of the G protein-coupled vasopressin V2 receptor are necessary for transport-competent receptor folding.
Thielen A et al.
Febs Letters, 2005
Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway.
Hermosilla R et al.
Traffic (copenhagen, Denmark), 2004
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Pediatric Nephrology (berlin, Germany), 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
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
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Congenital nephrogenic diabetes insipidus.
Bichet DG et al.
Journal of the American Society of Nephrology : Jasn, 1997
Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
Cheong HI et al.
Nephron, 1997
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS 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
Mutations and diseases of G protein coupled receptors.
Birnbaumer M
Journal of Receptor and Signal Transduction Research, 0