A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus

Kidney Int Rep. 2022 Jul 12;7(10):2289-2294. doi: 10.1016/j.ekir.2022.07.001. eCollection 2022 Oct.

Gitte R Hinrichs^{1

2}, Sandrine Baltzer^{3

4}, Tamara Pallien³, Per Svenningsen¹, Emil B Dalgaard², Jens Michael Hertz^{5

6}, Claus Bistrup^{2

6}, Boye L Jensen¹, Enno Klussmann^{3

7}

¹ Department of Molecular Medicine, Cardiovascular and Renal Research, University of Southern Denmark, Odense, Denmark.
² Department of Nephrology, Odense University Hospital, Odense, Denmark.
³ Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
⁴ Institute of Chemistry, Technische Universität Berlin, Berlin, Germany.
⁵ Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
⁶ Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
⁷ German Center for Cardiovascular Research, Partner Site Berlin, Berlin, Germany.

No abstract available

Keywords: cAMP; dehydration; golgi; vasopressin; water deprivation.