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Exome sequencing as a tool to discover genes for heart attack risk and blood lipids

S Kathiresan - Genome Biology, 2011 - Springer Deep exome resequencing is a powerful approach for delineating patterns of protein-coding variation among genes, pathways, individuals and populations. We analyzed exome data from 2,440 individuals of European and African ancestry as part of the National Heart, ...

Developmentally Regulated SCN5A Splice Variant Potentiates Dysfunction of a Novel Mutation Associated with Severe Fetal Arrhythmia

LL Murphy, AJ Moon-Grady, BF Cuneo, RT Wakai... - Heart Rhythm, 2011 - Elsevier Background Congenital long-QT syndrome (LQTS) may present during fetal development and can be life-threatening. The molecular mechanism for the unusual early onset of LQTS during fetal development is unknown. Objective We sought to elucidate the molecular ...

Shortened Ca2+ Signaling Refractoriness Underlies Cellular Arrhythmogenesis in a Postinfarction Model of Sudden Cardiac Death

AE Belevych, D Terentyev, R Terentyeva... - Circulation ..., 2012 - Am Heart Assoc Abstract Rationale: Diastolic spontaneous Ca 2+ waves (DCWs) are recognized as important contributors to triggered arrhythmias. DCWs are thought to arise when [Ca 2+] in sarcoplasmic reticulum ([Ca 2+] SR) reaches a certain threshold level, which might be ...

Genetic variation in cholesterol ester transfer protein, serum CETP activity, and coronary artery disease risk in Asian Indian diabetic cohort

A Schierer, LF Been, S Ralhan... - Pharmacogenetics ..., 2012 - Background: The role of cholesteryl ester transfer protein (CETP) in the metabolism of high-density lipoprotein cholesterol (HDL-C) is well studied but still controversial. More recently, genome-wide association studies and meta-analyses reported the association of a ...

Management of the Post-cardiac Arrest Syndrome

JC Reynolds... - The Journal of Emergency Medicine, 2012 - Elsevier Background Recent advances in resuscitation science have revolutionized care of the cardiac arrest patient. Dramatic departures from time-honored advanced cardiac life support therapies, such as cardiocerebral resuscitation and bundled post-arrest care, have given ... [CITATION] 824: Maternal cardiac arrest and perimortem cesarean delivery (PMCD): neonatal benefits H Sela... - American Journal of Obstetrics and Gynecology, 2012 - Elsevier
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