Associated Papers
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
Combined Inhibitory Effects of Citrinin, Ochratoxin-A, and T-2 Toxin on Aquaporin-2.
Maroli N et al.
The Journal of Physical Chemistry. B, 2019
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
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
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.
Nicchia GP et al.
Neuroscience, 2011
Familial forms of diabetes insipidus: clinical and molecular characteristics.
Babey M et al.
Nature Reviews. Endocrinology, 2011
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A et al.
The Journal of Physiology, 2010
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.
Yang B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Pediatric Nephrology (berlin, Germany), 2001
Routing of the aquaporin-2 water channel in health and disease.
Deen PM et al.
European Journal of Cell Biology, 2000
Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.
Shinbo I et al.
The American Journal of Physiology, 1999
Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme.
Rutishauser J et al.
European Journal of Endocrinology, 1999
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
Goji K et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
Tamarappoo BK et al.
The Journal of Clinical Investigation, 1998
Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
Canfield MC et al.
Human Molecular Genetics, 1997
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Experimental Nephrology, 0
Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH et al.
Proceedings of the Association of American Physicians, 0