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CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
Stuiver M, Lainez S, Will C, Terryn S, Günzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Němec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Müller D. Stuiver M, et al. Among authors: devuyst o. Am J Hum Genet. 2011 Mar 11;88(3):333-43. doi: 10.1016/j.ajhg.2011.02.005. Am J Hum Genet. 2011. PMID: 21397062 Free PMC article.
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: devuyst o. 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.
Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.
Belge H, Gailly P, Schwaller B, Loffing J, Debaix H, Riveira-Munoz E, Beauwens R, Devogelaer JP, Hoenderop JG, Bindels RJ, Devuyst O. Belge H, et al. Among authors: devuyst o. Proc Natl Acad Sci U S A. 2007 Sep 11;104(37):14849-54. doi: 10.1073/pnas.0702810104. Epub 2007 Sep 5. Proc Natl Acad Sci U S A. 2007. PMID: 17804801 Free PMC article.
Cell therapy for cystinosis.
Terryn S, Devuyst O, Antignac C. Terryn S, et al. Among authors: devuyst o. Nephrol Dial Transplant. 2010 Jul;25(7):2103-6. doi: 10.1093/ndt/gfq198. Epub 2010 Apr 15. Nephrol Dial Transplant. 2010. PMID: 20395258
Clinical utility gene card for: Gitelman syndrome.
Knoers NV, Devuyst O, Kamsteeg EJ. Knoers NV, et al. Among authors: devuyst o. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.14. Epub 2011 Feb 23. Eur J Hum Genet. 2011. PMID: 21343949 Free PMC article. No abstract available.
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J, Belge H, Bindels RJM, Devuyst O. van der Wijst J, et al. Among authors: devuyst o. Physiol Rev. 2019 Jul 1;99(3):1575-1653. doi: 10.1152/physrev.00008.2018. Physiol Rev. 2019. PMID: 31215303 Free article. Review.
459 results