Irene B. M. Konings

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

Marcel Nelen, Hannie Kremer, Irene B. M. Konings et al. · European Journal of Human Genetics · 1999 · 342 citations · Full text

Cowden Disease, Genetics, Pathogenesis +5

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

Erik‐Jan Kamsteeg, Giel Hendriks, Michelle Boone et al. · Proceedings of the National Academy of Sciences · 2006 · 226 citations · Full text

Molecular Biology, Short-chain Ubiquitination, Cellular Physiology +20

Quaternary Ammonium Compounds as Water Channel Blockers

Frank Detmers, Bert L. de Groot, E. Matthias Müller et al. · Journal of Biological Chemistry · 2006 · 138 citations · Full text

Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus

Nannette Marr, Daniel G. Bichet, Susan Hoefs et al. · Journal of the American Society of Nephrology · 2002 · 120 citations

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

Erik‐Jan Kamsteeg, Daniel G. Bichet, Irene B. M. Konings et al. · The Journal of Cell Biology · 2003 · 118 citations · Full text

Polarized Delivery, Molecular Biology, Dominant Nephrogenic Diabetes +18