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1. Full Text Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
by Oetjens, M. T and Kelly, M. A and Sturm, A. C and Martin, C. L and Ledbetter, D. H
Nature communications, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 4897 - 10
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Rare Diseases - genetics | Receptor, Melanocortin, Type 4 - deficiency | Humans | Middle Aged | Male | Chromosome Duplication - genetics | Sex Chromosome Disorders of Sex Development - genetics | Multifactorial Inheritance | Obesity - genetics | Intellectual Disability - genetics | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Cholesterol, LDL - blood | Female | Hypobetalipoproteinemias - genetics | Chromosomes, Human, Pair 16 - genetics | Autistic Disorder - genetics | Body Mass Index | Chromosome Deletion | Receptors, LDL - genetics | Chromosomes, Human, X - genetics | Apolipoproteins B - genetics | Proprotein Convertase 9 - genetics | Receptor, Melanocortin, Type 4 - genetics | Body Height - genetics | Cholesterol, LDL - genetics | Trisomy - genetics | XYY Karyotype - genetics | Turner Syndrome - genetics | Chromosome Disorders - genetics | Hyperlipoproteinemia Type II - genetics | Sex chromosomes | Genetic disorders | Disease | Disorders | Health risks | Melanocortin | Melanocortin MC4 receptors | Cholesterol | Hypercholesterolemia | Predictions | Lipoprotein (low density) receptors | Chromosomes | Polygenic inheritance | Index Medicus
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2. Full Text Genetic determinants of plasma triglycerides
by Johansen, Christopher T and Kathiresan, Sekar and Hegele, Robert A
Journal of lipid research, ISSN 0022-2275, 02/2011, Volume 52, Issue 2, pp. 189 - 206
Hypertriglyceridemia - drug therapy | Dyslipidemias - genetics | Fibric Acids - therapeutic use | Apolipoproteins A - genetics | Hypertriglyceridemia - genetics | Upstream Stimulatory Factors - genetics | Humans | Male | Risk | Apolipoprotein C-III - genetics | Dyslipidemias - blood | Niacin - therapeutic use | Angiopoietin-like Proteins | Female | Lipid Metabolism - genetics | Intracellular Signaling Peptides and Proteins - genetics | Fatty Acid Desaturases - genetics | Apolipoprotein A-V | Genome-Wide Association Study | Lipoprotein Lipase - genetics | Membrane Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | European Continental Ancestry Group | Lipid Metabolism Disorders - ethnology | Apolipoproteins B - genetics | Carrier Proteins - genetics | Phospholipid Transfer Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Coronary Artery Disease - genetics | Triglycerides - blood | Receptors, Lipoprotein | Polymorphism, Single Nucleotide | Triglycerides - genetics | Angiopoietins - genetics | Index Medicus | Thematic Review | hypotriglyceridemia | resequencing | hypertriglyceridemia | genetic variation | genomics | dyslipidemias | lipoproteins
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3. Full Text Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
by Talmud, Philippa J and Drenos, Fotios and Shah, Sonia and Shah, Tina and Palmen, Jutta and Verzilli, Claudio and Gaunt, Tom R and Pallas, Jacky and Lovering, Ruth and Li, Kawah and Casas, Juan Pablo and Sofat, Reecha and Kumari, Meena and Rodriguez, Santiago and Johnson, Toby and Newhouse, Stephen J and Dominiczak, Anna and Samani, Nilesh J and Caulfield, Mark and Sever, Peter and Stanton, Alice and Shields, Denis C and Padmanabhan, Sandosh and Melander, Olle and Hastie, Claire and Delles, Christian and Ebrahim, Shah and Marmot, Michael G and Smith, George Davey and Lawlor, Debbie A and Munroe, Patricia B and Day, Ian N and Kivimaki, Mika and Whittaker, John and Humphries, Steve E and Hingorani, Aroon D and on behalf of the ASCOT investigators and for the BRIGHT Consortium and on behalf of the NORDIL investigators and BRIGHT Consortium and ASCOT Investigators and NORDIL Investigators and ASCOT investigators and NORDIL investigators
American journal of human genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 628 - 642
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Lipids - genetics | Apolipoproteins A - genetics | Humans | Middle Aged | Male | Apolipoproteins B - blood | Cardiovascular Diseases - genetics | Apolipoproteins A - blood | Genetic Variation | Apolipoprotein A-I - genetics | Apolipoproteins - genetics | Computer Simulation | Lipids - blood | Adult | Cholesterol, LDL - blood | Female | Apolipoprotein A-V | European Continental Ancestry Group - genetics | Risk Factors | Probability | Apolipoproteins B - genetics | Apolipoproteins - blood | Cholesterol, HDL - genetics | Cholesterol, LDL - genetics | Apolipoproteins E - genetics | Alleles | Triglycerides - blood | Cholesterol, HDL - blood | Polymorphism, Single Nucleotide | Triglycerides - genetics | Apolipoprotein A-I - blood | Cohort Studies | Genetic aspects | Research | Lipid metabolism | Human genome | Apolipoproteins | Cardiovascular diseases | Genotype & phenotype | Lipids | Cardiovascular disease | Genomics | Risk factors | Blood | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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4. Full Text Expression of shRNA From a Tissue-specific pol II Promoter Is an Effective and Safe RNAi Therapeutic
by Giering, Jeffery C and Grimm, Dirk and Storm, Theresa A and Kay, Mark A
Molecular therapy, ISSN 1525-0016, 09/2008, Volume 16, Issue 9, pp. 1630 - 1636
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hepatitis B Surface Antigens - genetics | Blotting, Southern | Dependovirus - genetics | Genetic Therapy | RNA, Small Interfering - genetics | Liver - pathology | Luciferases - metabolism | Humans | Hepatitis B - virology | Liver Neoplasms - therapy | Genetic Vectors - therapeutic use | RNA Polymerase II - metabolism | Hepatitis B - immunology | Transfection | RNA, Small Nuclear - genetics | Carcinoma, Hepatocellular - genetics | Hepatitis B Surface Antigens - chemistry | Liver Neoplasms - virology | Promoter Regions, Genetic | alpha 1-Antitrypsin - genetics | Enzyme-Linked Immunosorbent Assay | Liver Neoplasms - genetics | Liver - metabolism | RNA, Small Interfering - pharmacology | Hepatitis B Surface Antigens - metabolism | Mice, Transgenic | Carcinoma, Hepatocellular - virology | DNA - genetics | Carrier Proteins - genetics | Blotting, Northern | Animals | Apolipoproteins E - genetics | Hepatitis B virus - genetics | RNA Polymerase II - genetics | Carcinoma, Hepatocellular - therapy | Mice | Mice, Inbred BALB C | Hepatitis B - prevention & control | Index Medicus
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5. Full Text MicroRNA-155 promotes atherosclerosis by repressing Bcl6 in macrophages
by Nazari-Jahantigh, Maliheh and Wei, Yuanyuan and Noels, Heidi and Akhtar, Shamima and Zhou, Zhe and Koenen, Rory R and Heyll, Kathrin and Gremse, Felix and Kiessling, Fabian and Grommes, Jochen and Weber, Christian and Schober, Aneas
The Journal of clinical investigation, ISSN 0021-9738, 11/2012, Volume 122, Issue 11, pp. 4190 - 4202
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Vasculitis - metabolism | Plaque, Atherosclerotic - genetics | Atherosclerosis - genetics | Vasculitis - pathology | MicroRNAs - metabolism | NF-kappa B - metabolism | Interferon-gamma - metabolism | Lipoproteins, LDL - genetics | Apolipoproteins E - metabolism | DNA-Binding Proteins - metabolism | Vasculitis - genetics | Chemokine CCL2 - metabolism | Lipoproteins, LDL - metabolism | Interferon-gamma - genetics | Plaque, Atherosclerotic - pathology | Atherosclerosis - pathology | DNA-Binding Proteins - antagonists & inhibitors | Macrophages - pathology | Plaque, Atherosclerotic - metabolism | Gene Expression Regulation - genetics | Chemokine CCL2 - genetics | Signal Transduction - genetics | DNA-Binding Proteins - genetics | Atherosclerosis - metabolism | Mice, Knockout | Macrophages - metabolism | Animals | NF-kappa B - genetics | Apolipoproteins E - genetics | Mice | MicroRNAs - genetics | Proto-Oncogene Proteins c-bcl-6 | MicroRNA | Atherosclerosis | Development and progression | Genetic aspects | Research | Properties | Macrophages | Gene expression | Index Medicus | Abridged Index Medicus | Atherogenesis | Lipoproteins (low density) | Transcription factors | Immune response | Data processing | Inflammation | Lipoproteins | Monocytes | NF- Kappa B protein | Arteriosclerosis | gamma -Interferon | miRNA | Differentiation | Chemokines | Monocyte chemoattractant protein 1 | Plaques | Bcl-6 protein
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6. Full Text Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
by Komor, Alexis C and Kim, Yongjoo B and Packer, Michael S and Zuris, John A and Liu, David R
Nature (London), ISSN 0028-0836, 04/2016, Volume 533, Issue 7603, pp. 420 - 424
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Apolipoprotein E4 - genetics | RNA, Guide - genetics | Humans | Genome - genetics | Templates, Genetic | INDEL Mutation - genetics | Uridine - genetics | Point Mutation - genetics | APOBEC-1 Deaminase | Base Sequence | Cytidine - genetics | Clustered Regularly Interspaced Short Palindromic Repeats - genetics | Genetic Engineering - methods | Cell Line | DNA - metabolism | Genes, p53 - genetics | Uracil-DNA Glycosidase - antagonists & inhibitors | DNA - genetics | Deoxyribonuclease I - metabolism | Animals | CRISPR-Associated Proteins - metabolism | Cytidine Deaminase - metabolism | DNA Repair | CRISPR-Cas Systems | Mice | DNA Cleavage | Genetic research | Genetic engineering | Research | Genomics | Methods | Proteins | Enzymes | Genetic disorders | Amino acids | Genomes | Mutation | DNA repair | Deoxyribonucleic acid--DNA | Index Medicus
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7. Full Text Genetic associations in diabetic nephropathy: a meta-analysis
by Mooyaart, A L and Mooyaart, A L and Valk, E J. J and Valk, E J. J and van Es, L A and van Es, L A and Bruijn, J A and Bruijn, J A and de Heer, E and de Heer, E and Freedman, B I and Freedman, B I and Dekkers, O M and Dekkers, O M and Baelde, H J and Baelde, H J
Diabetologia, ISSN 0012-186X, 3/2011, Volume 54, Issue 3, pp. 544 - 553
Medicine & Public Health | Human Physiology | Diabetes mellitus | Metabolic Diseases | Genetic polymorphism | Genetic association studies | Internal Medicine | Diabetic nephropathy | Meta-analysis | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Diabetes. Impaired glucose tolerance | Kidneys | Urinary system involvement in other diseases. Miscellaneous | Nephrology. Urinary tract diseases | Biological and medical sciences | Endocrinopathies | Etiopathogenesis. Screening. Investigations. Target tissue resistance | Medical sciences | Endocrine pancreas. Apud cells (diseases) | Associated diseases and complications | Dipeptidases - genetics | Humans | Intercellular Signaling Peptides and Proteins - genetics | Receptors, CCR5 - genetics | Diabetic Nephropathies - genetics | Carboxypeptidases - genetics | Nerve Tissue Proteins - genetics | Nitric Oxide Synthase Type III - genetics | Apolipoprotein C-I - genetics | Erythropoietin - genetics | Peptidyl-Dipeptidase A - genetics | Heparan Sulfate Proteoglycans - genetics | Apolipoproteins E - genetics | Adaptor Proteins, Signal Transducing - genetics | Polymorphism, Genetic - genetics | Genetic Variation - genetics | Type 2 diabetes | Medical colleges | Anopheles | Erythropoietin | Chronic kidney failure | Diabetic nephropathies | Genetic research | Diabetes | Research | Apolipoproteins | Index Medicus
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8. Full Text Hypobetalipoproteinemia and abetalipoproteinemia
by Welty, Francine K
Current opinion in lipidology, ISSN 0957-9672, 2014, Volume 25, Issue 3, pp. 161 - 168
combined hypolipidemia | angiopoietin-like 3 protein | proprotein convertase subtilisin/kexin type 9 | Abetalipoproteinemia | hypobetalipoproteinemia | Biochemistry & Molecular Biology | Endocrinology & Metabolism | Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Abetalipoproteinemia - blood | Humans | Hypobetalipoproteinemia, Familial, Apolipoprotein B - blood | Apolipoproteins B - blood | Biological Transport, Active - genetics | Coronary Artery Disease - blood | Proprotein Convertases - genetics | Liver Neoplasms - blood | Angiopoietin-like Proteins | Carcinoma, Hepatocellular - genetics | Serine Endopeptidases - genetics | Cholesterol, LDL - blood | Lipid Metabolism - genetics | Carcinoma, Hepatocellular - blood | Liver Cirrhosis - genetics | Hypobetalipoproteinemia, Familial, Apolipoprotein B - genetics | Angiopoietins - metabolism | Liver Neoplasms - genetics | Proprotein Convertases - metabolism | Apolipoproteins B - genetics | Liver Cirrhosis - blood | Cholesterol, LDL - genetics | Abetalipoproteinemia - genetics | Coronary Artery Disease - genetics | Triglycerides - blood | Serine Endopeptidases - metabolism | Mutation | Triglycerides - genetics | Angiopoietins - genetics | Proprotein Convertase 9 | Index Medicus | PCSK9 | Hypobetalipoproteinemia | abetalipoproteinemia
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9. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
by Sturm, Amy C and Knowles, Joshua W and Gidding, Samuel S and Ahmad, Zahid S and Ahmed, Catherine D and Ballantyne, Christie M and Baum, Seth J and Bourbon, Mafalda and Carrié, Alain and Cuchel, Marina and de Ferranti, Sarah D and Defesche, Joep C and Freiberger, Tomas and Hershberger, Ray E and Hovingh, G. Kees and Karayan, Lala and Kastelein, Johannes Jacob Pieter and Kindt, Iris and Lane, Stacey R and Leigh, Sarah E and Linton, MacRae F and Mata, Pedro and Neal, William A and Nordestgaard, Børge G and Santos, Raul D and Harada-Shiba, Mariko and Sijbrands, Eric J and Stitziel, Nathan O and Yamashita, Shizuya and Wilemon, Katherine A and Ledbetter, David H and Rader, Daniel J and Convened by the Familial Hypercholesterolemia Foundation
Journal of the American College of Cardiology, ISSN 0735-1097, 08/2018, Volume 72, Issue 6, pp. 662 - 680
genetic counseling | cascade testing | consensus statement | genetic testing | familial hypercholesterolemia | Receptors, LDL - genetics | Hyperlipoproteinemia Type II - blood | Genetic Testing - standards | Humans | Genetic Counseling - methods | Hyperlipoproteinemia Type II - diagnosis | Apolipoproteins B - blood | Apolipoproteins B - genetics | Proprotein Convertase 9 - genetics | Expert Testimony - methods | Genetic Testing - methods | Receptors, LDL - blood | Genetic Counseling - standards | Proprotein Convertase 9 - blood | Expert Testimony - standards | Hyperlipoproteinemia Type II - genetics | Phenotypes | Heart attacks | Genes | Health risks | Cardiovascular disease | Subtilisin | Family medical history | Angina pectoris | Genetic screening | Apolipoprotein B | Genetic counseling | Hypercholesterolemia | Kexin | Risk assessment | Receptor density | Lipoprotein (low density) receptors | Genetic testing | Cardiovascular diseases | Age | Deoxyribonucleic acid--DNA
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