Scn5a - Genetic Mutations

Relevant Publications

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Issue Release: 2024

Revisiting the Prognostic Role of SCN5A in Brugada Syndrome.

Issue Release: 2024

Molecular autopsy in Chinese sudden cardiac death in the young.

Issue Release: 2024

Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model.

Issue Release: 2024

Impacts of DCM-linked gating pore currents on the electrophysiological characteristics of hiPSC-CM monolayers.

Issue Release: 2024

Change of voltage-gated sodium channel repertoire in skeletal muscle of a MuSK myasthenia gravis mouse model.

Issue Release: 2024

Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast.

Issue Release: 2024

Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.

Issue Release: 2024

Cardiac Genetic Test Yields and Genotype-Phenotype Correlations from Large Cohort Investigated by Medical Examiner\'s Office.

Issue Release: 2024

Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.

Issue Release: 2024

Characterization of a novel SCN5A mutation associated with long QT syndrome and arrhythmogenic right ventricular cardiomyopathy in a family.

Issue Release: 2024

Automated radiosynthesis and preclinical imaging of a novel [F]fluorolidocaine analogue sequential C-H radiolabelling.

Issue Release: 2024

Exploring SCN5A Variants Associated with Atrial Fibrillation in Atrial Cardiomyocytes Derived from hiPSCs: A Characterization Study.

Issue Release: 2024

Generation of a patient-specific iPSC cell line with cardiac arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A).

Issue Release: 2024

FLRT3 and TGF-β/SMAD4 signalling: Impacts on apoptosis, autophagy and ion channels in supraventricular tachycardia.

Issue Release: 2024

Mannitol and hyponatremia regulate cardiac ventricular conduction in the context of sodium channel loss of function.

Issue Release: 2024

Implantable loop recorder in Brugada syndrome: Insights from a single-center experience.

Issue Release: 2024

Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier.

Issue Release: 2024

Sorafenib reduces the production of epoxyeicosatrienoic acids and leads to cardiac injury by inhibiting CYP2J in rats.

Issue Release: 2024

Errata: Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters: A Case Report.

Issue Release: 2024

Why is Long-Read Sequencing Important for Genetic Mutations?

Why is Studying Missense Mutations Important?

How are Neutral Mutations Detected?

What Are the Consequences of Translocations?

How Does Autosomal Recessive Inheritance Work?

How is Sickle Cell Disease Inherited?

What are Common Applications of Gene Cloning?

Can Genetic Mutations Be Treated or Prevented?

What Causes Cystic Fibrosis?

Why is Cellular Heterogeneity Important in Genetics?

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