Cargando…

SCN5A Variants: Association With Cardiac Disorders

The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Na(v)1.5. This channel predominates inward sodium current (INa) and plays a critical role in regulation of cardiac electrophysiological function. Since 1995, SCN5A variants have been found to be causatively associated with B...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Wenjia, Yin, Lei, Shen, Cheng, Hu, Kai, Ge, Junbo, Sun, Aijun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Physiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191725/ https://www.ncbi.nlm.nih.gov/pubmed/30364184 http://dx.doi.org/10.3389/fphys.2018.01372

Ejemplares similares

A1180V of Cardiac Sodium Channel Gene (SCN5A): Is It a Risk Factor for Dilated Cardiomyopathy or Just a Common Variant in Han Chinese?
por: Shen, Cheng, et al.
Publicado: (2013)

Mouse Models of SCN5A-Related Cardiac Arrhythmias
por: Derangeon, Mickael, et al.
Publicado: (2012)

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant
por: Doisne, Nicolas, et al.
Publicado: (2021)

Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?
por: Yang, Yihan, et al.
Publicado: (2019)

Cardiac Proteome Profiling in Ischemic and Dilated Cardiomyopathy Mouse Models
por: Lu, Danbo, et al.
Publicado: (2019)

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong
por: Tse, Gary, et al.
Publicado: (2020)

A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel
por: Zheng, Yang, et al.
Publicado: (2021)

Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models
por: Huang, Christopher L.-H., et al.
Publicado: (2012)

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene
por: Monasky, Michelle M., et al.
Publicado: (2019)

Proteomics Analysis of Myocardial Tissues in a Mouse Model of Coronary Microembolization
por: Chen, Ao, et al.
Publicado: (2018)

Biophysical Characterization of a Novel SCN5A Mutation Associated With an Atypical Phenotype of Atrial and Ventricular Arrhythmias and Sudden Death
por: Ghovanloo, Mohammad-Reza, et al.
Publicado: (2020)

Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study
por: Shen, Cheng, et al.
Publicado: (2022)

Effects of Allicin on Late Sodium Current Caused by ΔKPQ-SCN5A Mutation in HEK293 Cells
por: Chen, Yating, et al.
Publicado: (2021)

Cardiomyocyte Deletion of Bmal1 Exacerbates QT- and RR-Interval Prolongation in Scn5a(+/ΔKPQ) Mice
por: Schroder, Elizabeth A., et al.
Publicado: (2021)

Alpha-lipoic acid protects against pressure overload-induced heart failure via ALDH2-dependent Nrf1-FUNDC1 signaling
por: Li, Wenjia, et al.
Publicado: (2020)

Atrial arrhythmogenicity in aged Scn5a+/∆KPQ mice modeling long QT type 3 syndrome and its relationship to Na(+) channel expression and cardiac conduction
por: Guzadhur, Laila, et al.
Publicado: (2010)

Refractory dispersion promotes conduction disturbance and arrhythmias in a Scn5a(+/−) mouse model
por: Martin, Claire A., et al.
Publicado: (2011)

Delayed conduction and its implications in murine Scn5a(+/−) hearts: independent and interacting effects of genotype, age, and sex
por: Jeevaratnam, Kamalan, et al.
Publicado: (2010)

Cellular Mechanisms of Sinus Node Dysfunction in Carriers of the SCN5A-E161K Mutation and Role of the H558R Polymorphism
por: Wilders, Ronald
Publicado: (2018)

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
por: Yagihara, Nobue, et al.
Publicado: (2016)

Atrial arrhythmogenesis in wild-type and Scn5a+/Δ murine hearts modelling LQT3 syndrome
por: Dautova, Yana, et al.
Publicado: (2009)

“Pill-in-the-Pocket” Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism
por: Li, Linling, et al.
Publicado: (2019)

Mapping of reentrant spontaneous polymorphic ventricular tachycardia in a Scn5a+/− mouse model
por: Martin, Claire A., et al.
Publicado: (2011)

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
por: Mangano, Giuseppe Donato, et al.
Publicado: (2022)

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
por: Ricci, Maria Teresa, et al.
Publicado: (2014)

Post-Ganglionic Sympathetic Neurons can Directly Sense Raised Extracellular Na(+) via SCN7a/Na(x)
por: Davis, Harvey, et al.
Publicado: (2022)

A Rare Loss-of-Function SCN5A Variant is Associated With Lidocaine-induced Ventricular Fibrillation
por: Xiong, Qinmei, et al.
Publicado: (2014)

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome
por: Chen, Gan-Xiao, et al.
Publicado: (2022)

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease
por: Wong, Jennifer C., et al.
Publicado: (2021)

Disruption of STAT6 Signal Promotes Cardiac Fibrosis Through the Mobilization and Transformation of CD11b(+) Immature Myeloid Cells
por: Zhang, Weiwei, et al.
Publicado: (2020)

A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging
por: Benvenga, Rossella Maria, et al.
Publicado: (2021)

Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families
por: Molitor, Nadine, et al.
Publicado: (2022)

Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome
por: Ahn, Hyo-Jeong, et al.
Publicado: (2021)

Impact and potential mechanism of effects of chronic moderate alcohol consumption on cardiac function in aldehyde dehydrogenase 2 gene heterozygous mice
por: Hu, Qinfeng, et al.
Publicado: (2022)

SCN5A Mutations in Brugada Syndrome Are Associated with Increased Cardiac Dimensions and Reduced Contractility
por: van Hoorn, Frans, et al.
Publicado: (2012)

Altered sinoatrial node function and intra-atrial conduction in murine gain-of-function Scn5a+/ΔKPQ hearts suggest an overlap syndrome
por: Wu, Jingjing, et al.
Publicado: (2012)

Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias
por: Asadi, Marzi, et al.
Publicado: (2016)

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
por: de Lange, Iris M., et al.
Publicado: (2019)

Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome
por: Renard, Estelle, et al.
Publicado: (2023)

Data on mutations and Clinical features in SCN1A or SCN2A gene
por: Kong, Yanting, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_4k23k73i7pmptmts0via89b1md