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Jurnale medicale
Circulation: Cardiovascular Genetics current issue
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Jurnale medicale Circulation: Cardiovascular Genetics current issue

16 Decembrie 2014 21:34
16 Decembrie 2014 21:34
Background—

A founder mutation was recently discovered and described as conferring favorable lipid profiles and reduced subclinical atherosclerotic disease in a Pennsylvania Amish population. Preliminary data have suggested that this null mutation APOC3 R19X (rs76353203) is rare in the general popul

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34

Statins are the frontline in cholesterol reduction therapies; however, their use in combination with agents that possess complimentary mechanisms of action may achieve further reductions in low-density lipoprotein cholesterol. Thirty-nine patients were treated with either 80 mg simvastatin (n=20) or

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Scavenger receptor class B type 1 (SCARB1) plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism in selective cholesteryl ester uptake and in free cholesterol cellular efflux.

Methods and Results—

This study aims to identify common (minor allele frequency ≥5

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
16 Decembrie 2014 21:34
Background—

Triglycerides and their lipoprotein transport molecules are risk factors for heart disease. Observational studies have associated elevated levels of serum urate (SU) with triglycerides and risk of heart disease. However, owing to unmeasured confounding, observational studies do not provi

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Although cardiovascular disease (CVD) and type 2 diabetes mellitus (T2D) share many common risk factors, potential molecular mechanisms that may also be shared for these 2 disorders remain unknown.

Methods and Results—

Using an integrative pathway and network analysis, we performed geno

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Afamin is a human plasma vitamin E–binding glycoprotein primarily expressed in the liver and secreted into the bloodstream. Because little is known about (patho)-physiological functions of afamin, we decided to identify phenotypes associated with afamin by investigating transgenic mice o

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

The degree to which cytochrome P450 (CYP) 2C19 genotype influences the effectiveness of clopidogrel remains uncertain because of considerable heterogeneity in results between studies and potential publication bias. Clopidogrel indication and ethnic population have been proposed to influe

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

The majority of hypertriglyceridemias are diagnosed as familial combined hyperlipidemia (FCHL) and primary isolated hypertriglyceridemias. The contribution of common genetic variants in primary hypertriglyceridemias and the genetic difference between FCHL and isolated hypertriglyceridemi

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Statins (HMG-CoA reductase inhibitors) are the most prescribed class of lipid-lowering drugs for the treatment and prevention of cardiovascular disease. Creatine kinase (CK) is a commonly used biomarker to assist in the diagnosis of statin-induced myotoxicity but the normal range of CK c

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

The prediction of recurrent venous thrombosis using individual genetic risk predictors has proven to be challenging. The aim of this study was to assess whether multiple genetic single nucleotide polymorphism (SNP) analysis would predict recurrent venous thrombosis.

Methods and Results— mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Dimethylarginines (DMA) interfere with nitric oxide formation by inhibiting nitric oxide synthase (asymmetrical DMA [ADMA]) and l-arginine uptake into the cell (ADMA and symmetrical DMA [SDMA]). In prospective clinical studies, ADMA has been characterized as a cardiovascular risk marker,

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Vascular aneurysm is an abnormal local dilatation of an artery that can lead to vessel rupture and sudden death. The only treatment involves surgical or endovascular repair or exclusion. There is currently no approved medical therapy for this condition. Recent data established a strong a

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
16 Decembrie 2014 21:34
Background—

With aging and in cardiac disease, fibrosis caused by collagen deposition is increased, impairing contractility and providing a substrate for arrhythmia. In this study, we set out to identify genetic modifiers of collagen deposition in the heart by exploiting the genetic variability amon

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34

Lipidomics is the comprehensive analysis of molecular lipid species, including their quantitation and metabolic pathways. The huge diversity of native lipids and their modifications make lipidomic analyses challenging. The method of choice for sensitive detection and quantitation of molecular lipid

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

J-wave ECG patterns are associated with an increased risk of sudden arrhythmic death, and experimental evidence supports a transient outward current (Ito)-mediated mechanism of J-wave formation. This study aimed to determine the frequency of genetic mutations in genes encoding the Ito in

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

The spontaneously hypertensive rat (SHR) strain exists in lines that contrast strongly in susceptibility to renal injury in hypertension. These inbred lines share common ancestry, and only 13% of their genomes arise from different ancestors.

Methods and Results—

We used next gen sequenc

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Over the past 15 years, a myriad of mutations in genes encoding cardiac ion channels and ion channel interacting proteins have been linked to a long list of inherited atrial and ventricular arrhythmias. The purpose of this study was to identify the genetic and functional determinants und

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Blood pressure (BP) is highly heritable, but our understanding of the genetic causes underlying variations in BP is incomplete. In this study, we explored whether novel loci associated with BP could be identified using a genecentric approach in 3 community-based cohorts with accurate BP

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Cardiac resynchronization therapy (CRT) can improve ventricular size, shape, and mass and reduce mitral regurgitation by reverse remodeling of the failing ventricle. About 30% of patients do not respond to this therapy for unknown reasons. In this study, we aimed at the identification an

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
16 Decembrie 2014 21:34
Background—

Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of >50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $100

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Genomic variants identified by genome-wide association studies (GWAS) explain <20% of heritability of coronary artery disease (CAD), thus many risk variants remain missing for CAD. Identification of new variants may unravel new biological pathways and genetic mechanisms for CAD. To ident

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this study, we present an Italian family with atypical HCM

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
Background—

Human variation in susceptibility to hypoxia-induced pulmonary hypertension is well recognized. High-altitude residents who do not develop pulmonary hypertension may host protective gene mutations.

Methods and Results—

Exome sequencing was conducted on 24 unrelated Kyrgyz highlanders li

mai mult
Circulation: Cardiovascular Genetics current issue
16 Decembrie 2014 21:34
16 Decembrie 2014 21:34
Background—

Cardiovascular disease (CVD) is the most common cause of death in the United States and is associated with a high economic burden. Prevention of CVD focuses on controlling or improving the lipid profile of patients at risk. The human lipidome is made up of thousands of ubiquitous lipid s

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Circulation: Cardiovascular Genetics current issue
21 Octombrie 2014 20:00
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