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
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
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
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Familial forms of diabetes insipidus: clinical and molecular characteristics.
Babey M et al.
Nature Reviews. Endocrinology, 2011
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
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
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
N-linked oligosaccharides as outfitters for glycoprotein folding, form and function.
Mitra N et al.
Trends in Biochemical Sciences, 2006
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.
Buck TM et al.
American Journal of Physiology. Cell Physiology, 2004
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
Routing of the aquaporin-2 water channel in health and disease.
Deen PM et al.
European Journal of Cell Biology, 2000
Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
Tamarappoo BK et al.
The Journal of Biological Chemistry, 1999
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
Structure of aquaporin-2 vasopressin water channel.
Bai L et al.
The Journal of Biological Chemistry, 1996
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Experimental Nephrology, 0