Molecular and Functional Characterization of RareCACNA1CVariants in Sudden Unexplained Death in the Young
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Title
Molecular and Functional Characterization of RareCACNA1CVariants in Sudden Unexplained Death in the Young
Authors
Keywords
-
Journal
Congenital Heart Disease
Volume 11, Issue 6, Pages 683-692
Publisher
Wiley
Online
2016-05-25
DOI
10.1111/chd.12371
References
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Related references
Note: Only part of the references are listed.- Novel Timothy syndrome mutation leading to increase in CACNA1C window current
- (2015) Nicole J. Boczek et al. HEART RHYTHM
- Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome
- (2013) Nicole J. Boczek et al. Circulation-Cardiovascular Genetics
- Inherited calcium channelopathies in the pathophysiology of arrhythmias
- (2012) Luigi Venetucci et al. Nature Reviews Cardiology
- Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome
- (2011) Jane Gillis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Voltage–Dependent L-Type Calcium Channel
- (2011) Carlo Napolitano et al. CIRCULATION RESEARCH
- Increased Coupled Gating of L-Type Ca 2+ Channels During Hypertension and Timothy Syndrome
- (2010) Manuel F. Navedo et al. CIRCULATION RESEARCH
- Sudden Death in the Young
- (2010) Christian van der Werf et al. Circulation-Arrhythmia and Electrophysiology
- Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
- (2010) Elena Burashnikov et al. HEART RHYTHM
- The 1000 Genomes Project: new opportunities for research and social challenges
- (2010) Marc Via et al. Genome Medicine
- Genetic Testing for Long-QT Syndrome
- (2009) Suraj Kapa et al. CIRCULATION
- L-Type Calcium Channel C Terminus Autoregulates Transcription
- (2009) Elizabeth Schroder et al. CIRCULATION RESEARCH
- J wave syndromes
- (2009) Charles Antzelevitch et al. HEART RHYTHM
- Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome
- (2009) Jonathan M. Cordeiro et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- L-type Ca2+ current in ventricular cardiomyocytes
- (2009) Jean-Pierre Benitah et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Dual Variation in SCN5A and CACNB2b Underlies the Development of Cardiac Conduction Disease without Brugada Syndrome
- (2009) DAN HU et al. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
- Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia—A comparative study of four differently designed, high resolution microarray platforms
- (2008) Rebeqa Gunnarsson et al. GENES CHROMOSOMES & CANCER
- The QT syndromes: long and short
- (2008) Hiroshi Morita et al. LANCET
- Epidemiology of Sudden Cardiac Death: Clinical and Research Implications
- (2008) Sumeet S. Chugh et al. PROGRESS IN CARDIOVASCULAR DISEASES
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