Associated Papers
Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
Ghasemi S et al.
Molecular Genetics & Genomic Medicine, 2024
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
Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
Li Q et al.
Frontiers in Endocrinology, 2021
Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.
Li Q et al.
Frontiers in Endocrinology, 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
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 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
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
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
Desmopressin for nocturnal enuresis in nephrogenic diabetes insipidus.
Müller D et al.
Lancet (london, England), 2002
Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH et al.
Proceedings of the Association of American Physicians, 0