Makielski JC - Search Results

1

The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

Zheng J, Zhou F, Su T, Huang L, Wu Y, Yin K, Wu Q, Tang S, Makielski JC, Cheng J. Zheng J, et al. Among authors: makielski jc. Medicine (Baltimore). 2016 Jun;95(23):e3836. doi: 10.1097/MD.0000000000003836. Medicine (Baltimore). 2016. PMID: 27281089 Free PMC article.

2

Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening.

Cheng J, Makielski JC, Yuan P, Shi N, Zhou F, Ye B, Tan BH, Kroboth S. Cheng J, et al. Among authors: makielski jc. Am J Forensic Med Pathol. 2011 Dec;32(4):359-63. doi: 10.1097/PAF.0b013e3181d03d02. Am J Forensic Med Pathol. 2011. PMID: 20110800 Free PMC article.

3

Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

Zhao Q, Chen Y, Peng L, Gao R, Liu N, Jiang P, Liu C, Tang S, Quan L, Makielski JC, Cheng J. Zhao Q, et al. Among authors: makielski jc. Int J Legal Med. 2016 Mar;130(2):317-22. doi: 10.1007/s00414-015-1275-2. Epub 2015 Nov 19. Int J Legal Med. 2016. PMID: 26585738 Free PMC article.

4

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L, Tester DJ, Lang D, Chen Y, Zheng J, Gao R, Corliss RF, Tang S, Kyle JW, Liu C, Ackerman MJ, Makielski JC, Cheng J. Zhang L, et al. Among authors: makielski jc. Mayo Clin Proc. 2016 Nov;91(11):1503-1514. doi: 10.1016/j.mayocp.2016.06.031. Epub 2016 Oct 1. Mayo Clin Proc. 2016. PMID: 27707468 Free PMC article.

5

Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Huang L, Tang S, Chen Y, Zhang L, Yin K, Wu Y, Zheng J, Wu Q, Makielski JC, Cheng J. Huang L, et al. Among authors: makielski jc. Int J Legal Med. 2017 May;131(3):621-628. doi: 10.1007/s00414-016-1516-z. Epub 2016 Dec 28. Int J Legal Med. 2017. PMID: 28032242 Free PMC article.

6

Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

Cheng J, Kyle JW, Wiedmeyer B, Lang D, Vaidyanathan R, Makielski JC. Cheng J, et al. Among authors: makielski jc. Sci Rep. 2017 Feb 20;7:42953. doi: 10.1038/srep42953. Sci Rep. 2017. PMID: 28218286 Free PMC article.

7

An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.

Cheng J, Kyle JW, Lang D, Wiedmeyer B, Guo J, Yin K, Huang L, Vaidyanathan R, Su T, Makielski JC. Cheng J, et al. Among authors: makielski jc. J Am Heart Assoc. 2017 Apr 3;6(4):e005330. doi: 10.1161/JAHA.116.005330. J Am Heart Assoc. 2017. PMID: 28373245 Free PMC article.

8

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. Among authors: makielski jc. Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440. Circ Arrhythm Electrophysiol. 2009. PMID: 20009079 Free PMC article.

9

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Cheng J, Morales A, Siegfried JD, Li D, Norton N, Song J, Gonzalez-Quintana J, Makielski JC, Hershberger RE. Cheng J, et al. Among authors: makielski jc. Clin Transl Sci. 2010 Dec;3(6):287-94. doi: 10.1111/j.1752-8062.2010.00249.x. Clin Transl Sci. 2010. PMID: 21167004 Free PMC article.

10

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.

Cheng J, Tester DJ, Tan BH, Valdivia CR, Kroboth S, Ye B, January CT, Ackerman MJ, Makielski JC. Cheng J, et al. Among authors: makielski jc. Physiol Genomics. 2011 May 13;43(9):461-6. doi: 10.1152/physiolgenomics.00198.2010. Epub 2011 Mar 8. Physiol Genomics. 2011. PMID: 21385947 Free PMC article.

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