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A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF. van der Wijst J, et al. Nephron. 2018;139(4):359-366. doi: 10.1159/000488954. Epub 2018 May 23. Nephron. 2018. PMID: 29791908 Free PMC article.
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.
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 …
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.
A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.
van der Wijst J, Leunissen EH, Blanchard MG, Venselaar H, Verkaart S, Paulsen CE, Bindels RJ, Hoenderop JG. van der Wijst J, et al. Sci Rep. 2017 Apr 4;7:45489. doi: 10.1038/srep45489. Sci Rep. 2017. PMID: 28374795 Free PMC article.
Low gut microbiota diversity and dietary magnesium intake are associated with the development of PPI-induced hypomagnesemia.
Gommers LMM, Ederveen THA, van der Wijst J, Overmars-Bos C, Kortman GAM, Boekhorst J, Bindels RJM, de Baaij JHF, Hoenderop JGJ. Gommers LMM, et al. Among authors: van der wijst j. FASEB J. 2019 Oct;33(10):11235-11246. doi: 10.1096/fj.201900839R. Epub 2019 Jul 12. FASEB J. 2019. PMID: 31299175
Together, these results imply that both omeprazole treatment and low dietary Mg(2+) intake disturb the gut internal milieu and may pose a risk for the malabsorption of Mg(2+) in the colon.-Gommers, L. M. M., Ederveen, T. H. A., van der Wijst, J., Overm …
Together, these results imply that both omeprazole treatment and low dietary Mg(2+) intake disturb the gut internal milieu and may pose a ri …
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop JGJ, de Baaij JHF. Vargas-Poussou R, et al. Among authors: van der wijst j. Nephrol Dial Transplant. 2023 Feb 28;38(3):679-690. doi: 10.1093/ndt/gfac182. Nephrol Dial Transplant. 2023. PMID: 35561741 Free PMC article.
39 results