Knoers NV - Search Results

1

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: knoers nv. 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.

2

New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule.

Glaudemans B, Knoers NV, Hoenderop JG, Bindels RJ. Glaudemans B, et al. Among authors: knoers nv. Kidney Int. 2010 Jan;77(1):17-22. doi: 10.1038/ki.2009.358. Kidney Int. 2010. PMID: 19812536 Free article. Review.

3

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: knoers nv. J Clin Invest. 2007 Aug;117(8):2260-7. doi: 10.1172/JCI31680. J Clin Invest. 2007. PMID: 17671655 Free PMC article. Clinical Trial.

4

The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens.

Groenestege WM, Hoenderop JG, van den Heuvel L, Knoers N, Bindels RJ. Groenestege WM, et al. J Am Soc Nephrol. 2006 Apr;17(4):1035-43. doi: 10.1681/ASN.2005070700. Epub 2006 Mar 8. J Am Soc Nephrol. 2006. PMID: 16524949 Free article.

5

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.

Starremans PG, van der Kemp AW, Knoers NV, van den Heuvel LP, Bindels RJ. Starremans PG, et al. Among authors: knoers nv. Pflugers Arch. 2002 Jan;443(3):466-72. doi: 10.1007/s004240100708. Epub 2001 Oct 16. Pflugers Arch. 2002. PMID: 11810218

6

Genetic renal disorders with hypomagnesemia and hypocalciuria.

Knoers NV, de Jong JC, Meij IC, Van Den Heuvel LP, Bindels RJ. Knoers NV, et al. J Nephrol. 2003 Mar-Apr;16(2):293-6. J Nephrol. 2003. PMID: 12768080 Review.

7

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH. Glaudemans B, et al. Among authors: knoers nv. Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19. Eur J Hum Genet. 2012. PMID: 22009145 Free PMC article.

8

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T. Hofstra JM, et al. Among authors: knoers nv. Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4. Nephrol Dial Transplant. 2013. PMID: 23291369

9

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

de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV. de Baaij JH, et al. Among authors: knoers nv. Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11. Nephrol Dial Transplant. 2015. PMID: 25765846 Free article.

10

Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).

Müller D, Hoenderop JG, Meij IC, van den Heuvel LP, Knoers NV, den Hollander AI, Eggert P, García-Nieto V, Claverie-Martín F, Bindels RJ. Müller D, et al. Among authors: knoers nv. Genomics. 2000 Jul 1;67(1):48-53. doi: 10.1006/geno.2000.6203. Genomics. 2000. PMID: 10945469

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