Associated Papers
In Silico Modelling of the AQP0 T138R Mutation and its' links to Potential Mechanisms of Cataractogenesis.
Nikolaieva Y et al.
Research Square, 2025
Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
Ghasemi S et al.
Molecular Genetics & Genomic Medicine, 2024
[Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].
Makretskaya NA et al.
Problemy Endokrinologii, 2023
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
Bissonnette P et al.
Physiological Reports, 2021
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
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
El Tarazi A et al.
Scientific Reports, 2016
X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.
Frick A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Membrane protein stability analyses by means of protein energy profiles in case of nephrogenic diabetes insipidus.
Heinke F et al.
Computational and Mathematical Methods in Medicine, 2012
Familial forms of diabetes insipidus: clinical and molecular characteristics.
Babey M et al.
Nature Reviews. Endocrinology, 2011
Stimulating effect of external Myo-inositol on the expression of mutant forms of aquaporin 2.
Lussier Y et al.
The Journal of Membrane Biology, 2010
Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.
Guyon C et al.
American Journal of Physiology. Renal Physiology, 2009
Regulation of aquaporin-2 trafficking.
Nedvetsky PI et al.
Handbook of Experimental Pharmacology, 2009
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
[Familial type of nephrogenic diabetes insipidus with partially preserved renal concentration function, which is caused by homozygous D150E mutation in the aquaporin-2 (AQP-2) gene].
Tyulpakov AN et al.
Problemy Endokrinologii, 2007
Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
Iolascon A et al.
Nephron. Physiology, 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