Associated Papers
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
Peces R et al.
Molecular Genetics & Genomic Medicine, 2019
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
The Trafficking of the Water Channel Aquaporin-2 in Renal Principal Cells-a Potential Target for Pharmacological Intervention in Cardiovascular Diseases.
Vukićević T et al.
Frontiers in Pharmacology, 2016
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
Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.
Moeller HB et al.
Endocrine Reviews, 2013
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Aquaporins in kidney pathophysiology.
Noda Y et al.
Nature Reviews. Nephrology, 2010
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
Savelkoul PJ et al.
Human Mutation, 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
Aquaporin 2 mutations in nephrogenic diabetes insipidus.
Loonen AJ et al.
Seminars in Nephrology, 2008
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
[Nephrogenic diabetes insipidus: Pathogenesis, pathophysiology, and therapy].
Ota E et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
Cheong HI et al.
Journal of Korean Medical Science, 2005
The C-terminal tail of aquaporin-2 determines apical trafficking.
Kuwahara M et al.
Kidney International, 2005
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
The Journal of Cell Biology, 2003
Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations.
Asai T et al.
Kidney International, 2003
Altered trafficking and epithelial cell polarity in disease.
Stein M et al.
Trends in Cell Biology, 2002
Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Marr N et al.
Human Molecular Genetics, 2002
Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.
Kuwahara M et al.
American Journal of Human Genetics, 2001
Inheritance of nephrogenic diabetes insipidus.
WALKER NF et al.
American Journal of Human Genetics, 1954
Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH et al.
Proceedings of the Association of American Physicians, 0