相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia
Hao Huang et al.
CARDIOLOGY IN THE YOUNG (2018)
Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D)
Kirstine Calloe et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2018)
Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient
Elisabet Selga et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2018)
Marked exercise-induced T-wave heterogeneity in symptomatic diabetic patients with nonflow-limiting coronaryartery stenosis
Fernando G. Stocco et al.
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY (2018)
Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation
Krystien V. Lieve et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2017)
Cardiac action potential repolarization revisited: early repolarization shows all-or-none behaviour
Beatriz Trenor et al.
JOURNAL OF PHYSIOLOGY-LONDON (2017)
Whole-exome sequencing identifies a novel mutation (R367G) in SCN5A to be associated with familial cardiac conduction disease
Rong Yu et al.
MOLECULAR MEDICINE REPORTS (2017)
Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function
Ivan Gando et al.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY (2017)
Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy
Mamoru Hayano et al.
CIRCULATION JOURNAL (2017)
p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia
Zhen Yang et al.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2017)
Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation
Hisaaki Aoki et al.
JOURNAL OF ARRHYTHMIA (2017)
A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore
Boon Yew Tan et al.
EUROPACE (2016)
Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction
Jiarong Chen et al.
HEART RHYTHM (2016)
A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome
Qi Guo et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2016)
A novel Nav1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias
Hong-Gang Wang et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2016)
p.D1690N sodium voltage-gated channel subunit 5 mutation reduced sodium current density and is associated with Brugada syndrome
Zhipeng Zeng et al.
MOLECULAR MEDICINE REPORTS (2016)
Pathogenesis and management of Brugada syndrome
Juan Sieira et al.
NATURE REVIEWS CARDIOLOGY (2016)
Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations
Beatriz Ortiz-Bonnin et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2016)
Calcium handling precedes cardiac differentiation to initiate the first heartbeat
Richard C. V. Tyser et al.
ELIFE (2016)
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect
Christian Veltmann et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2016)
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG
Isik Turker et al.
PLOS ONE (2016)
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
Lumin Wang et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2015)
Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome
Tadashi Nakajima et al.
HEART RHYTHM (2015)
Na+ channel function, regulation, structure, trafficking and sequestration
Ye Chen-Izu et al.
JOURNAL OF PHYSIOLOGY-LONDON (2015)
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
Hassan Musa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome
Jian-Fang Zhu et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE (2015)
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis
Rou-Mu Hu et al.
PLOS ONE (2015)
PDZ Domain-Binding Motif Regulates Cardiomyocyte Compartment-Specific NaV 1.5 Channel Expression and Function
Diana Shy et al.
CIRCULATION (2014)
E1784K Mutation in SCN5A and Overlap Syndrome
Naokata Sumitomo
CIRCULATION JOURNAL (2014)
Flecainide Provocation Reveals Concealed Brugada Syndrome in a Long QT Syndrome Family With a Novel L1786Q Mutation in SCN5A
Jorgen K. Kanters et al.
CIRCULATION JOURNAL (2014)
A Mutation Causing Brugada Syndrome Identifies a Mechanism for Altered Autonomic and Oxidant Regulation of Cardiac Sodium Currents
Takeshi Aiba et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2014)
Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias
Heikki Swan et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2014)
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation
Azza Ziyadeh-Isleem et al.
HEART RHYTHM (2014)
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy
Thomas M. Beckermann et al.
HEART RHYTHM (2014)
Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation
Thomas Pambrun et al.
HEART RHYTHM (2014)
Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete
Nicola Detta et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2014)
Cardiac Channelopathies Associated with Infantile Fatal Ventricular Arrhythmias: From the Cradle to the Bench
Koichi Kato et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2014)
Digenic inheritance novel mutations in SCN5a and SNTA1 increase late INa contributing to LQT syndrome
Rou-Mu Hu et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2013)
Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: The multiple pool model
Diana Shy et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2013)
Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome
Kirstine Calloe et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2013)
A1180V of Cardiac Sodium Channel Gene (SCN5A): Is It a Risk Factor for Dilated Cardiomyopathy or Just a Common Variant in Han Chinese?
Cheng Shen et al.
DISEASE MARKERS (2013)
Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation
Pasquale Parisi et al.
EPILEPSY RESEARCH (2013)
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification
Elena Sommariva et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
Lucia Nunez et al.
HEART RHYTHM (2013)
A Novel SCN5A Mutation Demonstrating a Variety of Clinical Phenotypes in Familial Sick Sinus Syndrome
Seiko Nakajima et al.
INTERNAL MEDICINE (2013)
SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities
Hiroshi Watanabe et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome
Nicola Detta et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A
Takahide Kodama et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Cardiac channelopathy causing sudden death as revealed by molecular autopsy
Silke Kauferstein et al.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2013)
A heterozygous missense SCN5A mutation associated with early repolarization syndrome
Ning Li et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2013)
Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics
Cecile Terrenoire et al.
JOURNAL OF GENERAL PHYSIOLOGY (2013)
Novel SCN5A mutations in two families with Brugada-like ST elevation in the inferior leads and conduction disturbances
Philippe Maury et al.
JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY (2013)
Noncanonical Roles of Voltage-Gated Sodium Channels
Joel A. Black et al.
NEURON (2013)
A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome
Anna Tarradas et al.
PLOS ONE (2013)
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome
Sven Zumhagen et al.
PLOS ONE (2013)
Electrophysiological Characteristics of a SCN5A Voltage Sensors Mutation R1629Q Associated With Brugada Syndrome
Zhipeng Zeng et al.
PLOS ONE (2013)
Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family
Pablo Dolz-Gaiton et al.
PLOS ONE (2013)
Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation
Adrien Moreau et al.
FRONTIERS IN PHARMACOLOGY (2013)
Ca2+/Calmodulin-Dependent Protein Kinase II-Based Regulation of Voltage-Gated Na+ Channel in Cardiac Disease
Olha M. Koval et al.
CIRCULATION (2012)
Brugada Syndrome
Yuka Mizusawa et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2012)
Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A-Related Cardiac Channelopathy
Gabriel Laurent et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Nav1.5-dependent persistent Na+ influx activates CaMKII in rat ventricular myocytes and N1325S mice
Lina Yao et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2011)
A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization
Stefano Marangoni et al.
CARDIOVASCULAR RESEARCH (2011)
Delayed Afterdepolarization in Intact Canine Sinoatrial Node as a Novel Mechanism for Atrial Arrhythmia
Boyoung Joung et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2011)
Alternative Splicing of the Cardiac Sodium Channel Creates Multiple Variants of Mutant T1620K Channels
Stefan Walzik et al.
PLOS ONE (2011)
Na+ channel regulation by Ca2+/calmodulin and Ca2+/calmodulin-dependent protein kinase II in guinea-pig ventricular myocytes
Takeshi Aiba et al.
CARDIOVASCULAR RESEARCH (2010)
Early afterdepolarizations and cardiac arrhythmias
James N. Weiss et al.
HEART RHYTHM (2010)
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
David J. Tester et al.
HEART RHYTHM (2010)
Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy
Yuri A. Saito et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2009)
Spontaneous calcium release in tissue from the failing canine heart
Gregory S. Hoeker et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2009)
Oxidative Stress-Induced Afterdepolarizations and Calmodulin Kinase II Signaling
Lai-Hua Xie et al.
CIRCULATION RESEARCH (2009)
Cardiac sodium channel gene variants and sudden cardiac death in women
Christine M. Albert et al.
CIRCULATION (2008)
Burst Emergence of Intracellular Ca2+ Waves Evokes Arrhythmogenic Oscillatory Depolarization via the Na+-Ca2+ Exchanger Simultaneous Confocal Recording of Membrane Potential and Intracellular Ca2+ in the Heart
Katsuji Fujiwara et al.
CIRCULATION RESEARCH (2008)
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation
Begona Benito et al.
HEART RHYTHM (2008)
SCN5A channelopathies - An update on mutations and mechanisms
Thomas Zimmer et al.
PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (2008)
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel
Ralf Surber et al.
CARDIOVASCULAR RESEARCH (2008)
A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response
John R. Bankston et al.
PLOS ONE (2007)
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
Bi-Hua Tan et al.
CARDIOVASCULAR RESEARCH (2007)
Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a
Michael Hesse et al.
CARDIOVASCULAR RESEARCH (2007)
Cardiac sodium channel dysfunction in sudden infant death syndrome
Dao W. Wang et al.
CIRCULATION (2007)
A common polymorphism in SCN5A is associated with lone atrial fibrillation
L. Y. Chen et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2007)
Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease
Zhu-Shan Zhang et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2007)
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
Jonathan M. Cordeiro et al.
CIRCULATION (2006)
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect
Dau-Ming Niu et al.
JOURNAL OF MEDICAL GENETICS (2006)
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique
G Berecki et al.
JOURNAL OF PHYSIOLOGY-LONDON (2006)
A multi-modal composition of the late Na+ current in human ventricular cardiomyocytes
VA Maltsev et al.
CARDIOVASCULAR RESEARCH (2006)
Genetic testing in the long QT syndrome - Development and validation of an efficient approach to genotyping in clinical practice
C Napolitano et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Molecular basis of arrhythmias
M Shah et al.
CIRCULATION (2005)
Pathophysiological mechanisms of Brugada syndrome: Depolarization disorder, repolarization disorder, or more?
PG Meregalli et al.
CARDIOVASCULAR RESEARCH (2005)
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
JPP Smits et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2005)
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
DJ Tester et al.
HEART RHYTHM (2005)
Cellular mechanism of calcium-mediated triggered activity in the heart
RP Katra et al.
CIRCULATION RESEARCH (2005)
Basic mechanisms of cardiac impulse propagation and associated arrhythmias
AG Kléber et al.
PHYSIOLOGICAL REVIEWS (2004)
Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo
XL Tian et al.
CARDIOVASCULAR RESEARCH (2004)
A disubstituted succinamide is a potent sodium channel blocker with efficacy in a rat pain model
BT Priest et al.
BIOCHEMISTRY (2004)
Antagonism by ranolazine of the pro-arrhythmic effects of increasing late INa in guinea pig ventricular myocytes
YJ Song et al.
JOURNAL OF CARDIOVASCULAR PHARMACOLOGY (2004)
Inherited sodium channelopathies a continuum of channel dysfunction
PC Viswanathan et al.
TRENDS IN CARDIOVASCULAR MEDICINE (2004)
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
DW Benson et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
Role of sodium-calcium exchanger in modulating the action potential of ventricular myocytes from normal and failing hearts
AA Armoundas et al.
CIRCULATION RESEARCH (2003)
Risk stratification in the long-QT syndrome
SG Priori et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
CR Bezzina et al.
CIRCULATION RESEARCH (2003)
Gating of the late Na+ channel in normal and failing human myocardium
AI Undrovinas et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2002)
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
P Yang et al.
CIRCULATION (2002)
Larger late sodium conductance in M cells contributes to electrical heterogeneity in canine ventricle
AC Zygmunt et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2001)
Novel arrhythmogenic mechanism revealed by a Long-QT syndrome mutation in the cardiac Na+ channel
H Abriel et al.
CIRCULATION RESEARCH (2001)
A sodium-channel mutation causes isolated cardiac conduction disease
HL Tan et al.
NATURE (2001)
Point mutations in α-subunit of human cardiac Na+ channels alter Na+ current kinetics
YF Xiao et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)
Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome - A prospective evaluation of 52 families
SG Priori et al.
CIRCULATION (2000)
Sarcoplasmic reticulum Ca2+ release causes myocyte depolarization -: Underlying mechanism and threshold for triggered action potentials
K Schlotthauer et al.
CIRCULATION RESEARCH (2000)
From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
WA Catterall
NEURON (2000)
分享论文
