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Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

de Baaij, Jeroen H.F. ; Dorresteijn, Eiske M. ; Hennekam, Eric A.M. ; Kamsteeg, Erik-Jan ; Meijer, Rowdy ; Dahan, Karin ; Muller, Michelle ; van den Dorpel, Marinus A. ; Bindels, René J.M. ; Hoenderop, Joost G.J. ; Devuyst, Olivier ; Knoers, Nine V.A.M.

In: Nephrology Dialysis Transplantation, 2015, vol. 30, no. 6, p. 952-957

The ERA-EDTA Working Group on inherited kidney disorders

Devuyst, Olivier ; Antignac, Corinne ; Bindels, René J.M. ; Chauveau, Dominique ; Emma, Francesco ; Gansevoort, Ron ; Maxwell, Patrick H. ; Ong, Albert C.M. ; Remuzzi, Giuseppe ; Ronco, Pierre ; Schaefer, Franz

In: Nephrology Dialysis Transplantation, 2012, vol. 27, no. 1, p. 67-69

Enhanced passive Ca²⁺ reabsorption and reduced Mg²⁺ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia

Nijenhuis, Tom ; Vallon, Volker ; Kemp van der, Annemiete W.C.M. ; Loffing, Johannes ; Hoenderop, Joost G.J. ; Bindels, René J.M.

In: The Journal of Clinical Investigation, 2005, vol. 115(6), p. 1651

Thiazide diuretics enhance renal Na⁺ excretion by blocking the Na⁺-Cl⁻ cotransporter (NCC), and mutations in NCC result in Gitelman syndrome. The mechanisms underlying the accompanying hypocalciuria and hypomagnesemia remain debated. Here, we show that enhanced passive Ca²⁺ transport in the proximal tubule rather than active Ca²⁺ transport in distal convolution explains...