Cargando…

Commentary: Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome

Detalles Bibliográficos
Autores principales:	Monasky, Michelle M., Rutigliani, Carola, Micaglio, Emanuele, Pappone, Carlo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Physiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220137/ https://www.ncbi.nlm.nih.gov/pubmed/34177625 http://dx.doi.org/10.3389/fphys.2021.682567

Ejemplares similares

Calcium in Brugada Syndrome: Questions for Future Research
por: Monasky, Michelle M., et al.
Publicado: (2018)

The Mechanism of Ajmaline and Thus Brugada Syndrome: Not Only the Sodium Channel!
por: Monasky, Michelle M., et al.
Publicado: (2021)

Common modulators of Brugada syndrome phenotype do not affect SCN5A prognostic value
por: Pappone, Carlo, et al.
Publicado: (2021)

Brugada Syndrome: Oligogenic or Mendelian Disease?
por: Monasky, Michelle M., et al.
Publicado: (2020)

Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification
por: Monasky, Michelle M., et al.
Publicado: (2021)

Right ventricular electromechanical abnormalities in Brugada syndrome: is this a cardiomyopathy?
por: Pappone, Carlo, et al.
Publicado: (2020)

Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome
por: Di Mauro, Vittoria, et al.
Publicado: (2021)

Commentary: Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome
por: Monasky, Michelle M., et al.
Publicado: (2017)

Impact of Dietary Factors on Brugada Syndrome and Long QT Syndrome
por: D’Imperio, Sara, et al.
Publicado: (2021)

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)

Brugada Syndrome: Warning of a Systemic Condition?
por: D'Imperio, Sara, et al.
Publicado: (2021)

The omics of channelopathies and cardiomyopathies: what we know and how they are useful
por: Pappone, Carlo, et al.
Publicado: (2020)

Further Considerations in Childhood-Onset Hypertrophic Cardiomyopathy Genetic Testing
por: Monasky, Michelle M., et al.
Publicado: (2021)

Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene
por: Monasky, Michelle M., et al.
Publicado: (2019)

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Alterations of the Sialylation Machinery in Brugada Syndrome
por: Ghiroldi, Andrea, et al.
Publicado: (2022)

Brugada syndrome genetics is associated with phenotype severity
por: Ciconte, Giuseppe, et al.
Publicado: (2020)

Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome
por: Monasky, Michelle M., et al.
Publicado: (2020)

Early Morning QT Prolongation During Hypoglycemia: Only a Matter of Glucose?
por: D'Imperio, Sara, et al.
Publicado: (2021)

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
por: Laugel-Haushalter, Virginie, et al.
Publicado: (2018)

Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine
por: Micaglio, Emanuele, et al.
Publicado: (2021)

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths
por: Monasky, Michelle M., et al.
Publicado: (2021)

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Brugada Syndrome: Progress in Diagnosis and Management
por: Pappone, Carlo, et al.
Publicado: (2019)

Electrocardiographic temporo-spatial assessment of depolarization and repolarization changes after epicardial arrhythmogenic substrate ablation in Brugada syndrome
por: Locati, Emanuela T, et al.
Publicado: (2023)

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E
por: Carvill, Gemma L.
Publicado: (2019)

Length-Dependent Prolongation of Force Relaxation Is Unaltered by Delay of Intracellular Calcium Decline in Early-Stage Rabbit Right Ventricular Hypertrophy
por: Monasky, Michelle M., et al.
Publicado: (2017)

Sphingolipid Synthesis Inhibition by Myriocin Administration Enhances Lipid Consumption and Ameliorates Lipid Response to Myocardial Ischemia Reperfusion Injury
por: Bonezzi, Fabiola, et al.
Publicado: (2019)

Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation
por: Micaglio, Emanuele, et al.
Publicado: (2021)

The genetic component of Brugada syndrome
por: Nielsen, Morten W., et al.
Publicado: (2013)

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Key Role of the Membrane Trafficking of Nav1.5 Channel Protein in Antidepressant-Induced Brugada Syndrome
por: Chen, Xi, et al.
Publicado: (2018)

Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population
por: Sun, Lin, et al.
Publicado: (2018)

Epicardial ablation in genetic cardiomyopathies: a new frontier
por: Pappone, Carlo, et al.
Publicado: (2019)

Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome
por: Gütter, Christian, et al.
Publicado: (2013)

CACNA1H Calcium Channel Mutations in Primary Aldosteronism – Is Sodium the Culprit?
por: Stölting, Gabriel, et al.
Publicado: (2020)

Commentary: Voltage Gating of Mechanosensitive PIEZO Channels
por: Kaestner, Lars, et al.
Publicado: (2018)

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights
por: Frosio, Anthony, et al.
Publicado: (2023)

Temporal Variability in Electrocardiographic Indices in Subjects With Brugada Patterns
por: Lee, Sharen, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_6k1tf5b12rshl90enrrqdfi511