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 (BrS) is an inherited arrhythmogenic disease that may lead to sudden
cardiac death in young adults with structurally normal hearts. No pharmacological therapy is …
cardiac death in young adults with structurally normal hearts. No pharmacological therapy is …
Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing
Background Evidence for the role of the CACNA1C gene, which encodes for the α-subunit of
the cardiac L-type calcium channel CaV1. 2, as a cause of the BrS3 variant of Brugada …
the cardiac L-type calcium channel CaV1. 2, as a cause of the BrS3 variant of Brugada …
The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1. 2 channels
BA Simms, GW Zamponi - Molecular Brain, 2012 - Springer
Background A loss of function of the L-type calcium channel, Cav1. 2, results in a cardiac
specific disease known as Brugada syndrome. Although many Brugada syndrome …
specific disease known as Brugada syndrome. Although many Brugada syndrome …
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac …
Background—Cardiac ion channelopathies are responsible for an ever-increasing number
and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that …
and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that …
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome
JM Cordeiro, M Marieb, R Pfeiffer, K Calloe… - Journal of molecular and …, 2009 - Elsevier
Recent studies have demonstrated an association between mutations in CACNA1c or
CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss …
CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss …
Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1. 2 channels
BA Simms, IA Souza, GW Zamponi - Molecular brain, 2014 - Springer
Background The L-type calcium channel Cav1. 2 is important for brain and heart function.
The ubiquitous calcium sensing protein calmodulin (CaM) regulates calcium dependent …
The ubiquitous calcium sensing protein calmodulin (CaM) regulates calcium dependent …
A preclinical study on brugada syndrome with a CACNB2 variant using human cardiomyocytes from induced pluripotent stem cells
R Zhong, T Schimanski, F Zhang, H Lan… - International Journal of …, 2022 - mdpi.com
Aims: Some gene variants in the sodium channels, as well as calcium channels, have been
associated with Brugada syndrome (BrS). However, the investigation of the human cellular …
associated with Brugada syndrome (BrS). However, the investigation of the human cellular …
Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome
M Fukuyama, S Ohno, Q Wang, T Shirayama, H Itoh… - Heart Rhythm, 2014 - Elsevier
Background Brugada syndrome (BrS) is an inherited cardiac arrhythmia associated with
sudden death due to ventricular fibrillation. Mutations in genes related to the cardiac L-type …
sudden death due to ventricular fibrillation. Mutations in genes related to the cardiac L-type …
[PDF][PDF] Illuminating the path from genetics to clinical outcome in Brugada syndrome
PG Postema, R Walsh, CR Bezzina - European heart journal, 2021 - academic.oup.com
Brugada syndrome (BrS) is a relatively rare arrhythmia disorder that can lead to sudden
cardiac death (SCD) due to ventricular tachycardia/fibrillation (VT/VF), predominantly in …
cardiac death (SCD) due to ventricular tachycardia/fibrillation (VT/VF), predominantly in …
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations
DM Béziau, J Barc, T O'Hara, L Le Gloan… - Basic research in …, 2014 - Springer
Brugada syndrome (BrS) is characterized by ST-segment elevation in the right precordial
leads and is associated with increased risk of sudden cardiac death. We have recently …
leads and is associated with increased risk of sudden cardiac death. We have recently …
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