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Human Molecular Genetics|February 28, 2006
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tailDominik Müller, P Jaya Kausalya, Iwan C Meij, et al.
American Journal of Human Genetics|November 25, 2003
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargetingDominik Müller, P Jaya Kausalya, Felix Claverie-Martin, et al.
The Journal of Clinical Endocrinology and Metabolism|May 18, 2006
Unusual clinical presentation and possible rescue of a novel claudin-16 mutationDominik Müller, P Jaya Kausalya, Detlef Bockenhauer, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 15, 2012
Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosisTilman Breiderhoff, Nina Himmerkus, Marchel Stuiver, et al.
Journal of Cell Science|April 23, 2009
Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and functionDorothee Günzel, Marchel Stuiver, P Jaya Kausalya, et al.
Journal of Nephrology|May 28, 2003
Genetic renal disorders with hypomagnesemia and hypocalciuriaNine V A M Knoers, Joke C de Jong, Iwan C Meij, et al.
The Journal of Biological Chemistry|March 9, 2012
Membrane topology and intracellular processing of cyclin M2 (CNNM2)Jeroen H F de Baaij, Marchel Stuiver, Iwan C Meij, et al.
American Journal of Physiology. Renal Physiology|February 12, 2010
Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wastingConstanze Will, Tilman Breiderhoff, Julia Thumfart, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 14, 2003
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ lossIwan C Meij, Lambert P W J van den Heuvel, Sies Hemmes, et al.
Annals of the New York Academy of Sciences|May 24, 2003
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunitIwan C Meij, Jan B Koenderink, Joke C De Jong, et al.
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