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
40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM5_ESM.xlsx › Fig._2a
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
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Ding C et al.
American Journal of Medical Genetics. Part A, 2020
Common activation mechanism of class A GPCRs.
Zhou Q et al.
Elife, 2019
31855179 (PubMed )
Supplement: elife-50279-fig7-data1.xlsx › Sheet1
Nephrogenic Diabetes Insipidus.
Balla A et al.
Experientia Supplementum (2012), 2019
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
Erdélyi LS et al.
Kidney International, 2015
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Bockenhauer D et al.
Nature Reviews. Nephrology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
Altered agonist sensitivity of a mutant v2 receptor suggests a novel therapeutic strategy for nephrogenic diabetes insipidus.
Erdélyi LS et al.
Molecular Endocrinology (baltimore, Md.), 2014
A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone.
Staffler A et al.
Ndt Plus, 2009
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
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