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1
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D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.
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J Am Coll Cardiol
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2009
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2.12
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2
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Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.
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Heart Rhythm
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2010
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2.00
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3
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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
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Nat Genet
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2013
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1.86
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4
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A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.
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Cardiovasc Res
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2011
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1.70
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5
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Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.
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Circ J
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2012
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1.52
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6
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Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.
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J Am Coll Cardiol
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2004
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1.51
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7
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Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
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Circ J
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2013
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1.50
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8
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Age- and genotype-specific triggers for life-threatening arrhythmia in the genotyped long QT syndrome.
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J Cardiovasc Electrophysiol
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2008
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1.50
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9
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Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.
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Am J Physiol Cell Physiol
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2013
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1.49
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10
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L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
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Circ J
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2013
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1.44
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11
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KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.
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Heart Rhythm
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2009
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1.43
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12
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High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
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J Am Coll Cardiol
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2005
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1.40
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13
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Pediatric Cohort With Long QT Syndrome - KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.
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Circ J
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2016
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1.40
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14
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Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
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Circ J
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2010
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1.39
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15
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Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
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Circ Arrhythm Electrophysiol
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2009
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1.33
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16
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A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.
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J Am Coll Cardiol
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2008
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1.22
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17
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Ultrastructural maturation of human-induced pluripotent stem cell-derived cardiomyocytes in a long-term culture.
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Circ J
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2013
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1.11
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18
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Phenotype variability in patients carrying KCNJ2 mutations.
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Circ Cardiovasc Genet
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2012
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1.09
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19
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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
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Circ Cardiovasc Genet
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2013
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1.03
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20
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Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.
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J Mol Cell Cardiol
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2007
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1.01
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21
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Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
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Circ J
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2008
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0.99
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22
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Sarcoidosis complicated with major pulmonary artery obstruction and stenosis.
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Intern Med
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2012
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0.98
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23
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A nonsynonymous polymorphism in semaphorin 3A as a risk factor for human unexplained cardiac arrest with documented ventricular fibrillation.
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PLoS Genet
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2013
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0.89
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24
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Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
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J Cardiovasc Electrophysiol
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2014
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0.88
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25
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KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.
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Circ J
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2012
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0.88
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26
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Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.
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Biochim Biophys Acta
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2011
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0.86
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27
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Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome.
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Circ J
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2008
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0.83
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28
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Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
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J Cardiovasc Electrophysiol
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2004
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0.82
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29
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Drug-induced QT-interval prolongation and recurrent torsade de pointes in a child with heterotaxy syndrome and KCNE1 D85N polymorphism.
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J Electrocardiol
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2012
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0.81
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30
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High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.
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Biochemistry
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2012
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0.79
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31
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Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.
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J Cardiovasc Electrophysiol
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2013
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0.77
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32
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Heart rate-dependent variability of cardiac events in type 2 congenital long-QT syndrome.
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Europace
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2010
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0.77
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33
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A Common Mutation of Long QT Syndrome Type 1 in Japan.
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Circ J
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2015
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0.76
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34
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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment.
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Circ J
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2016
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0.76
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35
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Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
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Circ J
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2016
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0.75
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36
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[A case of brain metastasis of small cell lung cancer improved with nogitecan hydrochloride (topotecan) after prophylactic irradiation].
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Gan To Kagaku Ryoho
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2004
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0.75
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37
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Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.
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Intern Med
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2016
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0.75
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38
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A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
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Circ Cardiovasc Genet
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2011
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0.75
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