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Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
van der Wijst J, Glaudemans B, Venselaar H, Nair AV, Forst AL, Hoenderop JG, Bindels RJ. van der Wijst J, et al. J Biol Chem. 2010 Jan 1;285(1):171-8. doi: 10.1074/jbc.M109.041517. Epub 2009 Nov 10. J Biol Chem. 2010. PMID: 19903818 Free PMC article.
Recently, we presented autosomal dominant hypomagnesemia as a new phenotypic characteristic associated with a mutation in Kv1.1 (N255D) (Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, …
Recently, we presented autosomal dominant hypomagnesemia as a new phenotypic characteristic associated with a mutation in Kv1.1 (N255D) (Gla …
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
Groenestege WM, Thébault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ. Groenestege WM, et al. Among authors: van cutsem e, van den berg d, van den heuvel lp, van der wijst j. J Clin Invest. 2007 Aug;117(8):2260-7. doi: 10.1172/JCI31680. J Clin Invest. 2007. PMID: 17671655 Free PMC article. Clinical Trial.
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ. Glaudemans B, et al. Among authors: van der kemp aw, van der wijst j. J Clin Invest. 2009 Apr;119(4):936-42. doi: 10.1172/JCI36948. Epub 2009 Mar 23. J Clin Invest. 2009. PMID: 19307729 Free PMC article.
Effects of the EGFR Inhibitor Erlotinib on Magnesium Handling.
Dimke H, van der Wijst J, Alexander TR, Meijer IM, Mulder GM, van Goor H, Tejpar S, Hoenderop JG, Bindels RJ. Dimke H, et al. Among authors: van goor h, van der wijst j. J Am Soc Nephrol. 2010 Aug;21(8):1309-16. doi: 10.1681/ASN.2009111153. Epub 2010 Jul 1. J Am Soc Nephrol. 2010. PMID: 20595681 Free PMC article.
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG. Lainez S, et al. Among authors: van zeeland f, van der wijst j. Eur J Hum Genet. 2014 Apr;22(4):497-504. doi: 10.1038/ejhg.2013.178. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942199 Free PMC article.
40 results