Makielski JC - Search Results

1

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

Ye B, Valdivia CR, Ackerman MJ, Makielski JC. Ye B, et al. Among authors: makielski jc. Physiol Genomics. 2003 Feb 6;12(3):187-93. doi: 10.1152/physiolgenomics.00117.2002. Physiol Genomics. 2003. PMID: 12454206

2

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.

Valdivia CR, Ackerman MJ, Tester DJ, Wada T, McCormack J, Ye B, Makielski JC. Valdivia CR, et al. Among authors: makielski jc. Cardiovasc Res. 2002 Aug 1;55(2):279-89. doi: 10.1016/s0008-6363(02)00445-5. Cardiovasc Res. 2002. PMID: 12123767

3

Late Na currents affected by alpha subunit isoform and beta1 subunit co-expression in HEK293 cells.

Valdivia CR, Nagatomo T, Makielski JC. Valdivia CR, et al. Among authors: makielski jc. J Mol Cell Cardiol. 2002 Aug;34(8):1029-39. doi: 10.1006/jmcc.2002.2040. J Mol Cell Cardiol. 2002. PMID: 12234772

4

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ. Makielski JC, et al. Circ Res. 2003 Oct 31;93(9):821-8. doi: 10.1161/01.RES.0000096652.14509.96. Epub 2003 Sep 18. Circ Res. 2003. PMID: 14500339

5

A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.

Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir A, Makielski JC, Ackerman MJ. Valdivia CR, et al. Among authors: makielski jc. Cardiovasc Res. 2004 Apr 1;62(1):53-62. doi: 10.1016/j.cardiores.2004.01.022. Cardiovasc Res. 2004. PMID: 15023552

6

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants.

Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt KM, Tester DJ, Ackerman MJ, Makielski JC. Tan BH, et al. Among authors: makielski jc. Heart Rhythm. 2005 Jul;2(7):741-7. doi: 10.1016/j.hrthm.2005.04.021. Heart Rhythm. 2005. PMID: 15992732

7

Ranolazine and late cardiac sodium current--a therapeutic target for angina, arrhythmia and more?

Makielski JC, Valdivia CR. Makielski JC, et al. Br J Pharmacol. 2006 May;148(1):4-6. doi: 10.1038/sj.bjp.0706713. Br J Pharmacol. 2006. PMID: 16520741 Free PMC article.

8

Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.

Tan BH, Valdivia CR, Song C, Makielski JC. Tan BH, et al. Among authors: makielski jc. Am J Physiol Heart Circ Physiol. 2006 Oct;291(4):H1822-8. doi: 10.1152/ajpheart.00101.2006. Epub 2006 Apr 21. Am J Physiol Heart Circ Physiol. 2006. PMID: 16632547 Free article.

9

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

Tan BH, Iturralde-Torres P, Medeiros-Domingo A, Nava S, Tester DJ, Valdivia CR, Tusié-Luna T, Ackerman MJ, Makielski JC. Tan BH, et al. Among authors: makielski jc. Cardiovasc Res. 2007 Dec 1;76(3):409-17. doi: 10.1016/j.cardiores.2007.08.006. Epub 2007 Aug 22. Cardiovasc Res. 2007. PMID: 17897635 Free PMC article.

10

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.

Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC. Ueda K, et al. Among authors: makielski jc. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9355-60. doi: 10.1073/pnas.0801294105. Epub 2008 Jun 30. Proc Natl Acad Sci U S A. 2008. PMID: 18591664 Free PMC article.

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