Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.F204V
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AQP2

NM_000486.6:p.F204V

Associated Papers

Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.

Li Q et al.

Frontiers in Endocrinology, 2021

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

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

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

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

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

[Nephrogenic diabetes insipidus].

Bichet DG

Nephrologie & Therapeutique, 2006

Mouse model of inducible nephrogenic diabetes insipidus produced by floxed aquaporin-2 gene deletion.

Yang B et al.

American Journal of Physiology. Renal Physiology, 2006

Roles of aquaporins in kidney revealed by transgenic mice.

Verkman AS

Seminars in Nephrology, 2006

Diabetes insipidus in mice with a mutation in aquaporin-2.

Lloyd DJ et al.

Plos Genetics, 2005

Nephrogenic diabetes insipidus.

Knoers NV et al.

Seminars in Nephrology, 1999

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."