Erik-Jan Kamsteeg

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

Erik-Jan Kamsteeg, Thera A.M. Wormhoudt, J.P.L. Rijss et al. · The EMBO Journal · 1999 · 208 citations · Full text

Biology, Natural Sciences, Aquaporin-2 Mutant +6

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac et al. · Brain · 2018 · 85 citations · Full text

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 · 77 citations · Full text

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 68 citations · Full text