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Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: rook mb. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Efficient and specific cardiac IK₁ inhibition by a new pentamidine analogue.
Takanari H, Nalos L, Stary-Weinzinger A, de Git KC, Varkevisser R, Linder T, Houtman MJ, Peschar M, de Boer TP, Tidwell RR, Rook MB, Vos MA, van der Heyden MA. Takanari H, et al. Among authors: rook mb. Cardiovasc Res. 2013 Jul 1;99(1):203-14. doi: 10.1093/cvr/cvt103. Epub 2013 Apr 25. Cardiovasc Res. 2013. PMID: 23625347
The anti-protozoal drug pentamidine blocks KIR2.x-mediated inward rectifier current by entering the cytoplasmic pore region of the channel.
de Boer TP, Nalos L, Stary A, Kok B, Houtman MJ, Antoons G, van Veen TA, Beekman JD, de Groot BL, Opthof T, Rook MB, Vos MA, van der Heyden MA. de Boer TP, et al. Among authors: rook mb. Br J Pharmacol. 2010 Apr;159(7):1532-41. doi: 10.1111/j.1476-5381.2010.00658.x. Epub 2010 Feb 24. Br J Pharmacol. 2010. PMID: 20180941 Free PMC article.
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