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PLOS ONE, ISSN 1932-6203, 08/2008, Volume 3, Issue 8, pp. e2986 - e2986
Background: Rare mutations of the low-density lipoprotein receptor gene (LDLR) cause familial hypercholesterolemia, which increases the risk for coronary... 
POPULATION | HEART-DISEASE | METAANALYSIS | MYOCARDIAL-INFARCTION | CARDIOVASCULAR EVENTS | BIOLOGY | POLYMORPHISM | HYPERCHOLESTEROLEMIA | PREVALENCE | EPIDEMIOLOGY | GENOME-WIDE ASSOCIATION | Receptors, LDL - genetics | Oligonucleotide Array Sequence Analysis | Risk Assessment | Humans | Risk Factors | Cholesterol, LDL - drug effects | Chromosome Mapping | Random Allocation | Case-Control Studies | Genetic Variation | Cholesterol, LDL - genetics | Coronary Disease - prevention & control | Anticholesteremic Agents - therapeutic use | Coronary Disease - genetics | Cholesterol, LDL - blood | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Medical research | Hypercholesterolemia | Blood cholesterol | Low density lipoproteins | Genes | Medicine, Experimental | Genetic research | Genetics | Genetic aspects | Single nucleotide polymorphisms | Coronary heart disease | Risk factors | Lipoproteins (low density) | Risk | Lipids | Cardiovascular disease | Genomes | Single-nucleotide polymorphism | Gene polymorphism | Epidemiology | Consortia | Confidence intervals | Randomization | Population | Lipoprotein (low density) receptors | Children | Heart diseases | Statistical analysis | Mortality | Coronary artery | Health risks | Environmental health | Genetic diversity | Regression analysis | Metabolism | LDLR gene | Apolipoproteins | Coronary artery disease | Low density lipoprotein | Cholesterol | Studies | Genetic variance | Hospitals | Coronary vessels | Alleles | Biomarkers | Receptor density | Adults | Mutation | Polymorphism | Index Medicus
Journal Article
Cell Metabolism, ISSN 1550-4131, 05/2012, Volume 15, Issue 5, pp. 665 - 674
Nonalcoholic fatty liver disease (NAFLD) is associated with increased cardiovascular and liver-related mortality. NAFLD is characterized by both triglyceride... 
RAT-LIVER | RISK-FACTORS | MACROPHAGE APOPTOSIS | PROTEIN-KINASE | ENDOCRINOLOGY & METABOLISM | HMG-COA REDUCTASE | STEATOHEPATITIS | 3-HYDROXY-3-METHYLGLUTARYL COENZYME | PREVALENCE | MICRORNA EXPRESSION | MODULATION | CELL BIOLOGY | Sirtuin 1 - metabolism | Up-Regulation | Cholesterol - blood | Humans | Middle Aged | Sterol Esterase - metabolism | Male | MicroRNAs - metabolism | Desmosterol - metabolism | Cardiovascular Diseases - genetics | Cholesterol - genetics | Sirtuin 1 - genetics | Case-Control Studies | Phosphorylation - genetics | Hydroxymethylglutaryl CoA Reductases - metabolism | Adenylate Kinase - metabolism | Non-alcoholic Fatty Liver Disease | Sterol O-Acyltransferase - metabolism | Adult | Female | Lipid Metabolism - genetics | Sterol Regulatory Element Binding Protein 2 - genetics | Sterol Regulatory Element Binding Protein 2 - metabolism | Fatty Liver - genetics | Receptors, LDL - genetics | Gene Expression | Fatty Liver - metabolism | Cardiovascular Diseases - metabolism | Fatty Liver - blood | Liver - metabolism | Receptors, LDL - metabolism | Cholesterol - metabolism | Cholesterol, LDL - genetics | Phenotype | Sterol Esterase - genetics | Desmosterol - blood | Cholesterol, LDL - metabolism | MicroRNAs - genetics | Sterol O-Acyltransferase - genetics | Adenylate Kinase - genetics | Hydroxymethylglutaryl CoA Reductases - genetics | Enzymes | Liver diseases | Low density lipoproteins | Genes | Esters | Triglycerides | Cholesterol | MicroRNA | Fatty liver | Blood cholesterol | Physiological aspects | Hydrolases | Blood lipids | Health aspects | Statins | Index Medicus | atherosclerosis | Nonalcoholic steatohepatitis | cholesterol | Nonalcoholic fatty liver disease | fatty liver | lipogenesis | hypercholesterolemia | HMG CoA reductase
Journal Article
Nature, ISSN 0028-0836, 03/2010, Volume 464, Issue 7287, pp. 409 - 412
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, pp. e60729 - e60729
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevations in total cholesterol (TC) and low density lipoprotein... 
POPULATION | COMBINED HYPERLIPIDEMIA | GROWTH-HORMONE | RISK-FACTOR | CHOLESTEROL | UPSTREAM STIMULATORY FACTOR | MULTIDISCIPLINARY SCIENCES | LIPOPROTEIN RECEPTOR GENE | MUTATIONS | CORONARY-HEART-DISEASE | HARDY-WEINBERG EQUILIBRIUM | Receptors, LDL - genetics | Gene Frequency | Humans | Middle Aged | Genotype | Male | Apolipoproteins B - genetics | Malaysia | Proprotein Convertases - genetics | Hyperlipoproteinemia Type II - metabolism | Hyperlipoproteinemia Type II - pathology | Serine Endopeptidases - genetics | Adult | Female | Lipid Metabolism - genetics | Polymorphism, Single Nucleotide | Cohort Studies | Hyperlipoproteinemia Type II - genetics | Proprotein Convertase 9 | Hypercholesterolemia | Low density lipoproteins | Genes | Genetic aspects | Research | Single nucleotide polymorphisms | Cardiovascular diseases | Apolipoproteins | Cholesterol | Lipids | Risk | Cardiovascular disease | Single-nucleotide polymorphism | Family medical history | Mines | Apolipoprotein B | Atherosclerosis | Lipoprotein (low density) receptors | Heart diseases | Deoxyribonucleic acid--DNA | Health risks | Subtilisin | Genetic diversity | LDLR gene | Metabolism | Disease control | APOB gene | Hereditary diseases | Medicine | Studies | Genetic variance | Kexin | DNA microarrays | Genotyping | Growth hormones | Receptor density | Mutation | Genetic testing | Risk management | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and Taylor, Herman A and Olivieri, Oliviero and Hamsten, Anders and Clarke, Robert and Reilly, Dermot F and Yin, Wu and Rivas, Manuel A and Donnelly, Peter and Rossouw, Jacques E and Psaty, Bruce M and Herrington, David M and Wilson, James G and Rich, Stephen S and Bamshad, Michael J and Tracy, Russell P and Cupples, L. Aienne and Rader, Daniel J and Reilly, Muredach P and Spertus, John A and Cresci, Sharon and Hartiala, Jaana and Tang, W. H. Wilson and Hazen, Stanley L and Allayee, Hooman and Reiner, Alex P and Carlson, Christopher S and Kooperberg, Charles and Jackson, Rebecca D and Boerwinkle, Eric and Lander, Eric S and Schwartz, Stephen M and Siscovick, David S and McPherson, Ruth and Tybjaerg-Hansen, Anne and Abecasis, Goncalo R and Watkins, Hugh and Nickerson, Deborah A and Ardissino, Diego and Sunyaev, Shamil R and O'Donnell, Christopher J and Altshuler, David and Gabriel, Stacey and Kathiresan, Sekar and Gabriel, Stacey B and Altshuler, David M and Abecasis, Gonçalo R and Daly, Mark J and de Bakker, Paul I. W and Fennell, Tim and Garimella, Kiran and ... and NHLBI Exome Sequencing Project
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
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PLoS Genetics, ISSN 1553-7390, 03/2008, Volume 4, Issue 3, pp. e1000036 - e1000036
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Nature Communications, ISSN 2041-1723, 06/2014, Volume 5, Issue 1, pp. 3983 - 3983
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PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e94697 - e94697
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Journal of the American College of Cardiology, ISSN 0735-1097, 10/2017, Volume 70, Issue 14, pp. 1732 - 1740