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Late sodium current: A mechanism for angina, heart failure, and arrhythmia

Trends in cardiovascular medicine, 2016-02, Vol.26 (2), p.115-122

Makielski, Jonathan C., MD

2016

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IK1-enhanced human-induced pluripotent stem cell-derived cardiomyocytes: an improved cardiomyocyte model to investigate inherited arrhythmia syndromes

American journal of physiology. Heart and circulatory physiology, 2016-06, Vol.310 (11), p.H1611-H1621

2016

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

Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (27), p.9355-9360

2008

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

Mayo Clinic proceedings, 2016-11, Vol.91 (11), p.1503-1514

2016

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SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome

Circulation (New York, N.Y.), 2007-07, Vol.116 (2), p.134-142

2007

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Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia

Stem cell reports, 2014-08, Vol.3 (2), p.269-281

2014

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

American journal of physiology. Heart and circulatory physiology, 2009-10, Vol.297 (4), p.H1446-H1452

2009

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Channelopathies from mutations in the cardiac sodium channel protein complex

Journal of molecular and cellular cardiology, 2013-08, Vol.61, p.34-43

2013

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

Circulation (New York, N.Y.), 2007-11, Vol.116 (20), p.2253-2259

2007

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Increased late sodium current in myocytes from a canine heart failure model and from failing human heart

Journal of molecular and cellular cardiology, 2005-03, Vol.38 (3), p.475-483

2005

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Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

PloS one, 2015-04, Vol.10 (4), p.e0124921

2015

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Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

Mayo Clinic proceedings, 2004-11, Vol.79 (11), p.1380-1384

2004

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Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3

Heart rhythm, 2007-02, Vol.4 (2), p.161-166

2007

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Use-dependent block of cardiac late Na+ current by ranolazine

Heart rhythm, 2009-11, Vol.6 (11), p.1625-1631

2009

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Complexity of AF genetic susceptibility begets complexity of interpretation

Heart rhythm, 2017-02, Vol.14 (2), p.292-293

2017

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Sudden infant death syndrome–associated mutations in the sodium channel beta subunits

Heart rhythm, 2010-06, Vol.7 (6), p.771-778

2010

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Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

American journal of physiology: Gastrointestinal and liver physiology, 2009-02, Vol.296 (2), p.G211-G218

2009

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A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels

Circulation research, 2003-10, Vol.93 (9), p.821-828

2003

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

Medicine (Baltimore), 2016-06, Vol.95 (23), p.e3836

2016

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

Heart rhythm, 2004-11, Vol.1 (5), p.600-607

2004

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Mechanism of Block and Identification of the Verapamil Binding Domain to HERG Potassium Channels

Circulation research, 1999-05, Vol.84 (9), p.989-998

1999

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Mechanisms of Sudden Cardiac Death: Oxidants and Metabolism

Circulation research, 2015-06, Vol.116 (12), p.1937-1955

2015

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Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing

Heart rhythm, 2006-07, Vol.3 (7), p.800-805

2006

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Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients

Channels (Austin, Tex.), 2018-01, Vol.12 (1), p.176-186

2018

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Protein Kinase A–Dependent Biophysical Phenotype for V227F-KCNJ2 Mutation in Catecholaminergic Polymorphic Ventricular Tachycardia

Circulation. Arrhythmia and electrophysiology, 2009-10, Vol.2 (5), p.540-547

2009

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Late sodium current: A mechanism for angina, heart failure, and arrhythmia

IK1-enhanced human-induced pluripotent stem cell-derived cardiomyocytes: an improved cardiomyocyte model to investigate inherited arrhythmia syndromes

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

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

SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome

Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia

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

Channelopathies from mutations in the cardiac sodium channel protein complex

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

Increased late sodium current in myocytes from a canine heart failure model and from failing human heart

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3

Use-dependent block of cardiac late Na+ current by ranolazine

Complexity of AF genetic susceptibility begets complexity of interpretation

Sudden infant death syndrome–associated mutations in the sodium channel beta subunits

Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels

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

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

Mechanism of Block and Identification of the Verapamil Binding Domain to HERG Potassium Channels

Mechanisms of Sudden Cardiac Death: Oxidants and Metabolism

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients

Protein Kinase A–Dependent Biophysical Phenotype for V227F-KCNJ2 Mutation in Catecholaminergic Polymorphic Ventricular Tachycardia

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