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
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
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
Carroll P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.
Tajima T et al.
Endocrine Journal, 2003
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
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
Amelioration of polyuria in nephrogenic diabetes insipidus due to aquaporin-2 deficiency.
Hochberg Z et al.
Clinical Endocrinology, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation.
Hochberg Z et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Experimental Nephrology, 0
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