Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
Long-term outcome in inherited nephrogenic diabetes insipidus.
Sharma S et al.
Clinical Kidney Journal, 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
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Bockenhauer D et al.
Nature Reviews. Nephrology, 2015
The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog.
Klein N et al.
Febs Open Bio, 2015
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
Nonobstructive urinary tract dilatation in children with diabetes insipidus.
Colliver D et al.
Journal of Pediatric Surgery, 2012
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
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
Characterization of V71M mutation in the aquaporin-2 gene causing nephrogenic diabetes insipidus.
Bougacha-Elleuch N et al.
Journal of Genetics, 2008
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
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N et al.
Journal of the American Society of Nephrology : Jasn, 2002
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
Desmopressin for nocturnal enuresis in nephrogenic diabetes insipidus.
Müller D et al.
Lancet (london, England), 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
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 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