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Page 1
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: lainez s. Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4. Nephrol Dial Transplant. 2013. PMID: 23291369
Urinary plasmin inhibits TRPV5 in nephrotic-range proteinuria.
Tudpor K, Laínez S, Kwakernaak AJ, Kovalevskaya NV, Verkaart S, van Genesen S, van der Kemp A, Navis G, Bindels RJ, Hoenderop JG. Tudpor K, et al. Among authors: lainez s. J Am Soc Nephrol. 2012 Nov;23(11):1824-34. doi: 10.1681/ASN.2011111126. Epub 2012 Sep 27. J Am Soc Nephrol. 2012. PMID: 23024298 Free PMC article.
A novel KCNA1 mutation causing episodic ataxia type I.
Lassche S, Lainez S, Bloem BR, van de Warrenburg BP, Hofmeijer J, Lemmink HH, Hoenderop JG, Bindels RJ, Drost G. Lassche S, et al. Among authors: lainez s. Muscle Nerve. 2014 Aug;50(2):289-91. doi: 10.1002/mus.24242. Epub 2014 Jul 14. Muscle Nerve. 2014. PMID: 24639406
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: lainez s. 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.
Membrane topology and intracellular processing of cyclin M2 (CNNM2).
de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Müller D, Bindels RJ, Hoenderop JG. de Baaij JH, et al. Among authors: lainez s. J Biol Chem. 2012 Apr 20;287(17):13644-55. doi: 10.1074/jbc.M112.342204. Epub 2012 Mar 7. J Biol Chem. 2012. PMID: 22399287 Free PMC article.
Molecular and functional variation in iPSC-derived sensory neurons.
Schwartzentruber J, Foskolou S, Kilpinen H, Rodrigues J, Alasoo K, Knights AJ, Patel M, Goncalves A, Ferreira R, Benn CL, Wilbrey A, Bictash M, Impey E, Cao L, Lainez S, Loucif AJ, Whiting PJ; HIPSCI Consortium; Gutteridge A, Gaffney DJ. Schwartzentruber J, et al. Among authors: lainez s. Nat Genet. 2018 Jan;50(1):54-61. doi: 10.1038/s41588-017-0005-8. Epub 2017 Dec 11. Nat Genet. 2018. PMID: 29229984 Free PMC article.
30 results