Valdivia CR - Search Results

1

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Among authors: valdivia cr. Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22. Circ Cardiovasc Genet. 2015. PMID: 25904541 Free PMC article.

2

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ. Medeiros-Domingo A, et al. Circulation. 2007 Jul 10;116(2):134-42. doi: 10.1161/CIRCULATIONAHA.106.659086. Epub 2007 Jun 25. Circulation. 2007. PMID: 17592081 Free PMC article.

3

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. 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.

4

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ. Cheng J, et al. Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440. Circ Arrhythm Electrophysiol. 2009. PMID: 20009079 Free PMC article.

5

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Tester DJ, Valdivia C, Harris-Kerr C, Alders M, Salisbury BA, Wilde AA, Makielski JC, Ackerman MJ. Tester DJ, et al. Heart Rhythm. 2010 Jul;7(7):912-9. doi: 10.1016/j.hrthm.2010.04.014. Epub 2010 Apr 24. Heart Rhythm. 2010. PMID: 20403459 Free PMC article.

6

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. Cardiovasc Res. 2002 Aug 1;55(2):279-89. doi: 10.1016/s0008-6363(02)00445-5. Cardiovasc Res. 2002. PMID: 12123767

7

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. Cardiovasc Res. 2004 Apr 1;62(1):53-62. doi: 10.1016/j.cardiores.2004.01.022. Cardiovasc Res. 2004. PMID: 15023552

8

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: valdivia cr. Heart Rhythm. 2005 Jul;2(7):741-7. doi: 10.1016/j.hrthm.2005.04.021. Heart Rhythm. 2005. PMID: 15992732

9

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ. Van Norstrand DW, et al. Among authors: valdivia cr. Circulation. 2007 Nov 13;116(20):2253-9. doi: 10.1161/CIRCULATIONAHA.107.704627. Epub 2007 Oct 29. Circulation. 2007. PMID: 17967976 Free PMC article.

10

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

Valdivia CR, Ueda K, Ackerman MJ, Makielski JC. Valdivia CR, et al. Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. doi: 10.1152/ajpheart.00513.2009. Epub 2009 Aug 7. Am J Physiol Heart Circ Physiol. 2009. PMID: 19666841 Free PMC article.

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