A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel - Wikidata - awgldk - TriplyDB

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

http://www.wikidata.org/entity/Q28204838

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The human protein disulfide isomerase gene family Heart Disease and Stroke Statistics--2013 Update: A Report From the American Heart Association Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death Calsequestrin 2 and arrhythmias Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases Catecholaminergic polymorphic ventricular tachycardia: An exciting new era Genetics of inherited primary arrhythmia disorders Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells Molecular and genetic basis of sudden cardiac death Ion Channels in the Heart Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells A network-oriented perspective on cardiac calcium signaling Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes Cardiac innervation and sudden cardiac death.Role of sodium and calcium dysregulation in tachyarrhythmias in sudden cardiac death.Comparing skeletal and cardiac calsequestrin structures and their calcium binding: a proposed mechanism for coupled calcium binding and protein polymerization Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models Inherited ion channel diseases: a brief review Current topics in catecholaminergic polymorphic ventricular tachycardia Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia Inherited conduction system abnormalities--one group of diseases, many genes Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)Genetics of sudden cardiac death syndromes Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis Early cardiac hypertrophy in mice with impaired calmodulin regulation of cardiac muscle Ca release channel.Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice The calsequestrin mutation CASQ2D307H does not affect protein stability and targeting to the junctional sarcoplasmic reticulum but compromises its dynamic regulation of calcium buffering Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT Heart disease and stroke statistics--2012 update: a report from the American Heart Association Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation.Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.The molecular basis of catecholaminergic polymorphic ventricular tachycardia: what are the different hypotheses regarding mechanisms?Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.Catecholaminergic polymorphic ventricular tachycardia: a current overview.

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P2860

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

http://www.wikidata.org/entity/Q28204838

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P2860

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

Crystal structure of calsequestrin from rabbit skeletal muscle sarcoplasmic reticulum

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane

Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin

Using CLUSTAL for multiple sequence alignments

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.

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