Cargando…

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome

Brugada syndrome (BrS) is an inherited cardiac arrhythmia characterized by ST-elevation, negative T-wave, and a high risk of sudden cardiac death (SCD) due to ventricular tachycardia. It is associated with mutations in over 20 genes but only SCN5A is recommended for routine genetic screening. This s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zaklyazminskaya, Elena, Shestak, Anna, Podolyak, Dmitry, Komoliatova, Vera, Makarov, Leonid, Novitskaya, Anna, Revishvili, Amiran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9449364/ https://www.ncbi.nlm.nih.gov/pubmed/36091819 http://dx.doi.org/10.3389/fphar.2022.984299

Ejemplares similares

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome
por: Zaklyazminskaya, Elena, et al.
Publicado: (2022)

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation
por: Shestak, Anna G., et al.
Publicado: (2021)

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels
por: Shestak, Anna G., et al.
Publicado: (2021)

Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome
por: Chiang, Kun-Chi, et al.
Publicado: (2009)

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

Simultaneous Non‐Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms
por: Rudic, Boris, et al.
Publicado: (2016)

The use of noninvasive ECG imaging for examination of a patient with Brugada syndrome
por: Chaykovskaya, Maria, et al.
Publicado: (2015)

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison
por: Loussouarn, Gildas, et al.
Publicado: (2016)

Calmodulin binds to the N-terminal domain of the cardiac sodium channel Na(v)1.5
por: Wang, Zizun, et al.
Publicado: (2020)

Complex genetic background in a large family with Brugada syndrome
por: Saber, Siamak, et al.
Publicado: (2015)

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
por: Dolz-Gaitón, Pablo, et al.
Publicado: (2013)

The role of REST and HDAC2 in epigenetic dysregulation of Nav1.5 and nNav1.5 expression in breast cancer
por: Kamarulzaman, Nur Sabrina, et al.
Publicado: (2017)

Outcomes of Cryoballoon Ablation in High- and Low-Volume Atrial Fibrillation Ablation Centres: A Russian Pilot Survey
por: Mikhaylov, Evgeny N., et al.
Publicado: (2015)

Multiple Nav1.5 isoforms are functionally expressed in the brain and present distinct expression patterns compared with cardiac Nav1.5
por: Wang, Jun, et al.
Publicado: (2017)

Not All Brugada Electrocardiogram Patterns are Brugada Syndrome or Brugada Phenocopy
por: Xu, Grace, et al.
Publicado: (2017)

Kir2.1-Nav1.5 Channel Complexes Are Differently Regulated than Kir2.1 and Nav1.5 Channels Alone
por: Utrilla, Raquel G., et al.
Publicado: (2017)

Left-Shifted Nav Channels in Injured Bilayer: Primary Targets for Neuroprotective Nav Antagonists?
por: Morris, Catherine E., et al.
Publicado: (2012)

Animal Toxins Can Alter the Function of Nav1.8 and Nav1.9
por: Gilchrist, John, et al.
Publicado: (2012)

Reassessment of some neutron yields from the longer-lived delayed neutron emitters
por: del Marmol, P, et al.
Publicado: (1970)

Reassessing the Reassessment of suPAR in Glomerular Disease
por: Meijers, Björn K. I., et al.
Publicado: (2015)

Identification of Navβ1 Residues Involved in the Modulation of the Sodium Channel Nav1.4
por: Islas, Angel A., et al.
Publicado: (2013)

German Language Adaptation of the NAVS (NAVS-G) and of the NAT (NAT-G): Testing Grammar in Aphasia
por: Ditges, Ruth, et al.
Publicado: (2021)

All that looks like “Brugada” is not “Brugada”: Case series of Brugada phenocopy caused by hyponatremia
por: Agrawal, Yashwant, et al.
Publicado: (2016)

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry
por: Chen, Ching-Yu Julius, et al.
Publicado: (2019)

Inhibition of the Cardiac Na(+) Channel Nav1.5 by Carbon Monoxide
por: Elies, Jacobo, et al.
Publicado: (2014)

Absolute Quantification of Nav1.5 Expression by Targeted Mass Spectrometry
por: Adams, Sarah L., et al.
Publicado: (2022)

Nav1.5-E3 antibody inhibits cancer progression
por: Gao, Rui, et al.
Publicado: (2019)

The russian forest : a novel
por: Leonov, Leonid, 1899-1994

Microsoft Dynamics NAV development quick start guide: get up and running with Microsoft Dynamics NAV
por: Drogin, Alexander
Publicado: (2018)

Nav1.7 and Nav1.8: Diabetes-induced Changes in Primary Sensory Neurons in Rats
por: Lv, Jianlin, et al.
Publicado: (2016)

Effects of acidosis on neuronal voltage-gated sodium channels: Nav1.1 and Nav1.3
por: Ghovanloo, Mohammad-Reza, et al.
Publicado: (2018)

Influence of androgenic blockade with flutamide on pain behaviour and expression of the genes that encode the NaV1.7 and NaV1.8 voltage-dependent sodium channels in a rat model of postoperative pain
por: Barbosa Neto, José Osvaldo, et al.
Publicado: (2019)

Implementing Microsoft Dynamics NAV 2009
por: Roys, David, et al.
Publicado: (2009)

Reassessment of chitosanase substrate specificities and classification
por: Weikert, Tobias, et al.
Publicado: (2017)

Implementing Microsoft Dynamics NAV: explore the capabilities of Dynamics NAV 2016 and discover all you need to implement it
por: Chow, Alex
Publicado: (2016)

Heterologous functional expression of ascidian Nav1 channels and close relationship with the evolutionary ancestor of vertebrate Nav channels
por: Kawai, Takafumi, et al.
Publicado: (2021)

MicroRNA-9 induces defective trafficking of Nav1.1 and Nav1.2 by targeting Navβ2 protein coding region in rat with chronic brain hypoperfusion
por: Sun, Li-Hua, et al.
Publicado: (2015)

Brugada syndrome
por: Napolitano, Carlo, et al.
Publicado: (2006)

Mastering Microsoft Dynamics NAV 2016: the compilation of best skillset to harness Microsoft Dynamics NAV for administrators, consultants, and developers
por: Sah, Rabindra
Publicado: (2017)

Building ERP solutions with Microsoft Dynamics NAV: create real-world enterprise solutions with NAV, Cloud and the Microsoft stack
por: Demiliani, Stefano
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_hqqqm76p9dkfo7pfpi6321md3n