P.M.T. Deen

New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

S.M. Mulders, Nine V.A.M. Knoers, A.F. van Lieburg et al. · Journal of the American Society of Nephrology · 1997 · 176 citations

Life Sciences, Genetics, Physiology +16

Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus

Joris H. Robben, Mozes Sze, Nine V.A.M. Knoers et al. · American Journal of Physiology-Renal Physiology · 2006 · 118 citations · Full text

Medicine, Pharmacology, Physiology +15

At Physiological Expression Levels the Kidd Blood Group/Urea Transporter Protein Is Not a Water Channel

Frédéric Sidoux-Walter, Nicole Lucien, Bernadette Olivès et al. · Journal of Biological Chemistry · 1999 · 78 citations · Full text

Life Sciences, Biochemistry, Physiology +9

Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus

Nannette Marr, Erik‐Jan Kamsteeg, M. van Raak et al. · Pflügers Archiv - European Journal of Physiology · 2001 · 55 citations

Medicine, Genetics, Nephrology +8

A 76-bp Deletion in the Mip Gene Causes Autosomal Dominant Cataract in Hfi Mice

D.J. Sidjanin, Devonne M. Parker-Wilson, Angelika Neuhäuser-Klaus et al. · Genomics · 2001 · 51 citations

Medicine, Genetics, Molecular Genetics +7