CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
STUIVER, Marchel, LAINEZ, Sergio, QUERFELD, Uwe, WILLNOW, Thomas E, NEMEC, Vladimir, WAGNER, Carsten A, HOENDEROP, Joost G, DEVUYST, Olivier, KNOERS, Nine V. A. M, BINDELS, René J, MEIJ, Iwan C, MÜLLER, Dominik, WILL, Constanze, TERRYN, Sara, GÜNZEL, Dorothee, DEBAIX, Huguette, SOMMER, Kerstin, KOPPLIN, Kathrin, THUMFART, Julia, KAMPIK, Nicole B
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis
Breiderhoff, Tilman, Himmerkus, Nina, Stuiver, Marchel, Mutig, Kerim, Will, Constanze, Meij, Iwan C, Bachmann, Sebastian, Bleich, Markus, Willnow, Thomas E, Müller, Dominik
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
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Journal Article
Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)
de Baaij, Jeroen H.F., Stuiver, Marchel, Meij, Iwan C., Lainez, Sergio, Kopplin, Kathrin, Venselaar, Hanka, Müller, Dominik, Bindels, René J.M., Hoenderop, Joost G.J.
Published in The Journal of biological chemistry (20.04.2012)
Published in The Journal of biological chemistry (20.04.2012)
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Journal Article
Disturbed function of the blood–cerebrospinal fluid barrier aggravates neuro-inflammation
Kooij, Gijs, Kopplin, Kathrin, Blasig, Rosel, Stuiver, Marchel, Koning, Nathalie, Goverse, Gera, van der Pol, Susanne M. A., van het Hof, Bert, Gollasch, Maik, Drexhage, Joost A. R., Reijerkerk, Arie, Meij, Iwan C., Mebius, Reina, Willnow, Thomas E., Müller, Dominik, Blasig, Ingolf E., de Vries, Helga E.
Published in Acta neuropathologica (01.08.2014)
Published in Acta neuropathologica (01.08.2014)
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Journal Article
L1 retrotransposition can occur early in human embryonic development
van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.
Published in Human molecular genetics (01.07.2007)
Published in Human molecular genetics (01.07.2007)
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Journal Article
Unusual Clinical Presentation and Possible Rescue of a Novel Claudin-16 Mutation
Müller, Dominik, Kausalya, P. Jaya, Bockenhauer, Detlef, Thumfart, Julia, Meij, Iwan C, Dillon, Michael J, Hoff, William van’t, Hunziker, Walter
Published in The journal of clinical endocrinology and metabolism (01.08.2006)
Published in The journal of clinical endocrinology and metabolism (01.08.2006)
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Journal Article
Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function
Günzel, Dorothee, Stuiver, Marchel, Kausalya, P. Jaya, Haisch, Lea, Krug, Susanne M, Rosenthal, Rita, Meij, Iwan C, Hunziker, Walter, Fromm, Michael, Müller, Dominik
Published in Journal of cell science (15.05.2009)
Published in Journal of cell science (15.05.2009)
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Journal Article
Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting
Will, Constanze, Breiderhoff, Tilman, Thumfart, Julia, Stuiver, Marchel, Kopplin, Kathrin, Sommer, Kerstin, Günzel, Dorothee, Querfeld, Uwe, Meij, Iwan C, Shan, Qixian, Bleich, Markus, Willnow, Thomas E, Müller, Dominik
Published in American journal of physiology. Renal physiology (01.05.2010)
Published in American journal of physiology. Renal physiology (01.05.2010)
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Journal Article
A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting
Müller, Dominik, Kausalya, P. Jaya, Claverie-Martin, Felix, Meij, Iwan C., Eggert, Paul, Garcia-Nieto, Victor, Hunziker, Walter
Published in American journal of human genetics (01.12.2003)
Published in American journal of human genetics (01.12.2003)
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Journal Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail
Müller, Dominik, Kausalya, P. Jaya, Meij, Iwan C., Hunziker, Walter
Published in Human molecular genetics (01.04.2006)
Published in Human molecular genetics (01.04.2006)
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Journal Article
Dominant isolated renal magnesium loss is caused by misrouting of the Na + ,K + -ATPase γ-subunit
Knoers, Nine V.A.M, van Bokhoven, Hans, Koenderink, Jan B, Tiel Groenestege, Wouter, de Pont, Jan Joep H.H.M, van den Heuvel, Lambert P.W.J, Meij, Iwan C, Monnens, Leo A.H, Assink, Karin F.H, Bindels, René J.M
Published in Nature genetics (01.11.2000)
Published in Nature genetics (01.11.2000)
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Journal Article
Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit
MEIJ, IWAN C., KOENDERINK, JAN B., DE JONG, JOKE C., DE PONT, JAN JOEP H. H. M., MONNENS, LEO A. H., VAN DEN HEUVEL, LAMBERT P. W. J., KNOERS, NINE V. A. M.
Published in Annals of the New York Academy of Sciences (01.04.2003)
Published in Annals of the New York Academy of Sciences (01.04.2003)
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Journal Article
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss
Meij, Iwan C., van den Heuvel, Lambert P. W. J., Hemmes, Sies, van der Vliet, Walter A., Willems, Johannes L., Monnens, Leo A. H., Knoers, Nine V. A. M.
Published in Nephrology, dialysis, transplantation (01.03.2003)
Published in Nephrology, dialysis, transplantation (01.03.2003)
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Journal Article
Genetic renal disorders with hypomagnesemia and hypocalciuria
Knoers, Nine V A M, de Jong, Joke C, Meij, Iwan C, Van Den Heuvel, Lambert P W J, Bindels, Rene J M
Published in Journal of nephrology (01.03.2003)
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Published in Journal of nephrology (01.03.2003)
Journal Article
Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca 2+ and Mg 2+ wasting
Will, Constanze, Breiderhoff, Tilman, Thumfart, Julia, Stuiver, Marchel, Kopplin, Kathrin, Sommer, Kerstin, Günzel, Dorothee, Querfeld, Uwe, Meij, Iwan C., Shan, Qixian, Bleich, Markus, Willnow, Thomas E., Müller, Dominik
Published in American journal of physiology. Renal physiology (01.05.2010)
Published in American journal of physiology. Renal physiology (01.05.2010)
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Journal Article
Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca^sup 2+^ and Mg^sup 2+^ wasting
Will, Constanze, Breiderhoff, Tilman, Thumlart, Julia, Stuiver, Marchel, Kopplin, Kathrin, Sommer, Kerstin, Günzel, Dorothee, Querfeld, Uwe, Meij, Iwan C, Shan, Qixian, Bleich, Markus, Willnow, Thomas E, Müller, Dominik
Published in American journal of physiology. Renal physiology (01.05.2010)
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Published in American journal of physiology. Renal physiology (01.05.2010)
Journal Article
Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting
WILL, Constanze, BREIDERHOFF, Tilman, BLEICH, Markus, WILLNOW, Thomas E, MÜLLER, Dominik, THUMFART, Julia, STUIVER, Marchel, KOPPLIN, Kathrin, SOMMER, Kerstin, GÜNZEL, Dorothee, QUERFELD, Uwe, MEIJ, Iwan C, QIXIAN SHAN
Published in American journal of physiology. Renal physiology (2010)
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Published in American journal of physiology. Renal physiology (2010)
Journal Article
CNNM2, Encoding a Basolateral Protein Required for Renal Mg^sup 2+^ Handling, Is Mutated in Dominant Hypomagnesemia
Stuiver, Marchel, Lainez, Sergio, Will, Constanze, Terryn, Sara, Günzel, Dorothee, Debaix, Huguette, Sommer, Kerstin, Kopplin, Kathrin, Thumfart, Julia, Kampik, Nicole B, Querfeld, Uwe, Willnow, Thomas E, N-mec, Vladimír, Wagner, Carsten A, Hoenderop, Joost G, Devuyst, Olivier, Knoers, Nine VAM, Bindels, René J, Meij, Iwan C, Müller, Dominik
Published in American journal of human genetics (11.03.2011)
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Published in American journal of human genetics (11.03.2011)
Journal Article
CNNM2, Encoding a Basolateral Protein Required for Renal Mg super(2+) Handling, Is Mutated in Dominant Hypomagnesemia
Stuiver, Marchel, Lainez, Sergio, Will, Constanze, Terryn, Sara, Guenzel, Dorothee, Debaix, Huguette, Sommer, Kerstin, Kopplin, Kathrin, Thumfart, Julia, Kampik, Nicole B, Querfeld, Uwe, Willnow, Thomas E, Nemec, Vladimir, Wagner, Carsten A, Hoenderop, Joost G, Devuyst, Olivier, Knoers, Nine VAM, Bindels, Rene J, Meij, Iwan C, Mueller, Dominik
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Journal Article