Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S256L
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AQP2

NM_000486.6:p.S256L

Associated Papers

Genetic renal disease classification by hormonal axes.

Rotem-Grunbaum B et al.

Pediatric Nephrology (berlin, Germany), 2020

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Gao C et al.

Cells, 2020

Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.

Milano S et al.

International Journal of Molecular Sciences, 2017

The Trafficking of the Water Channel Aquaporin-2 in Renal Principal Cells-a Potential Target for Pharmacological Intervention in Cardiovascular Diseases.

Vukićević T et al.

Frontiers in Pharmacology, 2016

Characterization of the putative phosphorylation sites of the AQP2 C terminus and their role in AQP2 trafficking in LLC-PK1 cells.

Arthur J et al.

American Journal of Physiology. Renal Physiology, 2015

Expression of a dominant negative PKA mutation in the kidney elicits a diabetes insipidus phenotype.

Gilbert ML et al.

American Journal of Physiology. Renal Physiology, 2015

A protein kinase A-independent pathway controlling aquaporin 2 trafficking as a possible cause for the syndrome of inappropriate antidiuresis associated with polycystic kidney disease 1 haploinsufficiency.

Tamma G et al.

Journal of the American Society of Nephrology : Jasn, 2014

Phosphorylation and ubiquitylation are opposing processes that regulate endocytosis of the water channel aquaporin-2.

Moeller HB et al.

Journal of Cell Science, 2014

Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

Moeller HB et al.

Endocrine Reviews, 2013

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Wesche D et al.

Pediatric Nephrology (berlin, Germany), 2012

Regulation of the water channel aquaporin-2 by posttranslational modification.

Moeller HB et al.

American Journal of Physiology. Renal Physiology, 2011

Regulation of AQP2 localization by S256 and S261 phosphorylation and ubiquitination.

Tamma G et al.

American Journal of Physiology. Cell Physiology, 2011

Adenylate cyclase 6 determines cAMP formation and aquaporin-2 phosphorylation and trafficking in inner medulla.

Rieg T et al.

Journal of the American Society of Nephrology : Jasn, 2010

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

A role for VAMP8/endobrevin in surface deployment of the water channel aquaporin 2.

Wang CC et al.

Molecular and Cellular Biology, 2010

Inactivation of Notch signaling in the renal collecting duct causes nephrogenic diabetes insipidus in mice.

Jeong HW et al.

The Journal of Clinical Investigation, 2009

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

Savelkoul PJ et al.

Human Mutation, 2009

Congenital nephrogenic diabetes insipidus: what can we learn from mouse models?

Boone M et al.

Experimental Physiology, 2009

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

Vasopressin-stimulated increase in phosphorylation at Ser269 potentiates plasma membrane retention of aquaporin-2.

Hoffert JD et al.

The Journal of Biological Chemistry, 2008

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Loonen AJ et al.

Seminars in Nephrology, 2008

Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.

Shi PP et al.

American Journal of Physiology. Renal Physiology, 2007

Molecular basis and clinical features of nephrogenic diabetes insipidus.

Schulz A et al.

Expert Review of Endocrinology & Metabolism, 2006

Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation.

McDill BW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

Nephrogenic diabetes insipidus.

Knoers NV et al.

Seminars in Nephrology, 1999

Development and Diseases of the Collecting Duct System.

Chen L et al.

Results and Problems in Cell Differentiation, 0

Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.

van Os CH et al.

Proceedings of the Association of American Physicians, 0

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