Associated Papers
Co-evolution of alpha-helical transmembrane protein residues: large-scale variant profiling and complete mutational landscape of 2277 known PDB entries representing 504 unique human protein sequences.
Karagöl T et al.
Journal of Molecular Evolution, 2025
Transcriptional regulatory factors of the Aqp2 gene.
Jung HJ et al.
Kidney Research and Clinical Practice, 2025
Mechanistic insights into glycosylation-driven structural rearrangements in human aquaporin 1.
Saito K et al.
Physical Chemistry Chemical Physics : Pccp, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.
Al-Thiabat H et al.
The American Journal of Case Reports, 2024
Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Hagströmer CJ et al.
Scientific Reports, 2023
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
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
Peces R et al.
Molecular Genetics & Genomic Medicine, 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
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
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
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
Regulation of aquaporin-2 trafficking.
Nedvetsky PI et al.
Handbook of Experimental Pharmacology, 2009
Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus.
Tsutsumi Z et al.
Internal Medicine (tokyo, Japan), 2009
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
Aquaporins: The renal water channels.
Agarwal SK et al.
Indian Journal of Nephrology, 2008
Aquaporin 2 mutations in nephrogenic diabetes insipidus.
Loonen AJ et al.
Seminars in Nephrology, 2008
Loss of N-linked glycosylation reduces urea transporter UT-A1 response to vasopressin.
Chen G et al.
The Journal of Biological Chemistry, 2006
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
[Genetic disorders of vasopressin and vasopressin receptor genes].
Murase T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005
Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.
Hendriks G et al.
The Journal of Biological Chemistry, 2004
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
[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].
Ishikawa SE
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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
Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells.
Yamauchi K et al.
Kidney International, 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
Vasopressin and related disorders.
Oiso Y et al.
Internal Medicine (tokyo, Japan), 1998
Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
Kuwahara M
Internal Medicine (tokyo, Japan), 1998
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