The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

Por Kamsteeg, E.J., Heijnen, I., van Os, C.H., Deen, P.M.T.
Publicado em 2000

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

Por Kamsteeg, E J, Wormhoudt, T A, Rijss, J P, van Os, C H, Deen, P M
Publicado em 1999

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Por Ali, A. M., Mbwasi, R. M., Kinabo, G., Kamsteeg, E.-J., Hamel, B. C., Dekker, M. C. J.
Publicado no Case Rep Genet (2017)

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Por Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Publicado no J Genet Couns (2016)

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

Por Mulders, S M, Bichet, D G, Rijss, J P, Kamsteeg, E J, Arthus, M F, Lonergan, M, Fujiwara, M, Morgan, K, Leijendekker, R, van der Sluijs, P, van Os, C H, Deen, P M
Publicado em 1998

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Por Ockeloen, C.W., Gilhuis, H.J., Pfundt, R., Kamsteeg, E.J., Agrawal, P.B., Beggs, A.H., Hama-Amin, A. Dara, Diekstra, A., Knoers, N.V.A.M., Lammens, M., van Alfen, N.
Publicado em 2012