Associated Papers
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
Sasaki S et al.
Clinical and Experimental Nephrology, 2013
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Hereditary polyuric disorders: new concepts and differential diagnosis.
Bichet DG
Seminars in Nephrology, 2006
Molecular biology of hereditary diabetes insipidus.
Fujiwara TM et al.
Journal of the American Society of Nephrology : Jasn, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
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
Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
Rosenthal W et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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
Mutations and diseases of G protein coupled receptors.
Birnbaumer M
Journal of Receptor and Signal Transduction Research, 0