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  • 1
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    Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency (1998)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1998-06-20
    Description: In humans, interferon gamma (IFN-gamma) receptor deficiency leads to a predisposition to mycobacterial infections and impairs the formation of mature granulomas. Interleukin-12 (IL-12) receptor deficiency was found in otherwise healthy individuals with mycobacterial infections. Mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells. Thus, IL-12-dependent IFN-gamma secretion in humans seems essential in the control of mycobacterial infections, despite the formation of mature granulomas due to IL-12-independent IFN-gamma secretion.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Altare, F -- Durandy, A -- Lammas, D -- Emile, J F -- Lamhamedi, S -- Le Deist, F -- Drysdale, P -- Jouanguy, E -- Doffinger, R -- Bernaudin, F -- Jeppsson, O -- Gollob, J A -- Meinl, E -- Segal, A W -- Fischer, A -- Kumararatne, D -- Casanova, J L -- New York, N.Y. -- Science. 1998 May 29;280(5368):1432-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉INSERM U429, Hopital Necker-Enfants Malades, Paris 75015, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9603732" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Cytotoxicity, Immunologic ; Female ; Granuloma/immunology ; Humans ; Hypersensitivity, Delayed ; Interferon-gamma/biosynthesis/immunology/secretion ; Interleukin-12/*immunology ; Killer Cells, Natural/immunology ; Lymphocyte Activation ; Male ; Mice ; Mice, Knockout ; Mutation ; Mycobacterium avium-intracellulare Infection/*immunology ; *Mycobacterium bovis ; Pedigree ; Receptors, Interferon/genetics/immunology ; Receptors, Interleukin/deficiency/*genetics ; Receptors, Interleukin-12 ; T-Lymphocytes/immunology ; Tuberculosis/*immunology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Mei-P26 regulates microRNAs and cell growth in the Drosophila ovarian stem cell lineage (2008)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2008-06-06
    Description: Drosophila neuroblasts and ovarian stem cells are well characterized models for stem cell biology. In both cell types, one daughter cell self-renews continuously while the other undergoes a limited number of divisions, stops to proliferate mitotically and differentiates. Whereas neuroblasts segregate the Trim-NHL (tripartite motif and Ncl-1, HT2A and Lin-41 domain)-containing protein Brain tumour (Brat) into one of the two daughter cells, ovarian stem cells are regulated by an extracellular signal from the surrounding stem cell niche. After division, one daughter cell looses niche contact. It undergoes 4 transit-amplifying divisions to form a cyst of 16 interconnected cells that reduce their rate of growth and stop to proliferate mitotically. Here we show that the Trim-NHL protein Mei-P26 (refs 7, 8) restricts growth and proliferation in the ovarian stem cell lineage. Mei-P26 expression is low in stem cells but is strongly induced in 16-cell cysts. In mei-P26 mutants, transit-amplifying cells are larger and proliferate indefinitely leading to the formation of an ovarian tumour. Like brat, mei-P26 regulates nucleolar size and can induce differentiation in Drosophila neuroblasts, suggesting that these genes act through the same pathway. We identify Argonaute-1, a component of the RISC complex, as a common binding partner of Brat and Mei-P26, and show that Mei-P26 acts by inhibiting the microRNA pathway. Mei-P26 and Brat have a similar domain composition that is also found in other tumour suppressors and might be a defining property of a new family of microRNA regulators that act specifically in stem cell lineages.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988194/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988194/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Neumuller, Ralph A -- Betschinger, Joerg -- Fischer, Anja -- Bushati, Natascha -- Poernbacher, Ingrid -- Mechtler, Karl -- Cohen, Stephen M -- Knoblich, Juergen A -- P 16629/Austrian Science Fund FWF/Austria -- England -- Nature. 2008 Jul 10;454(7201):241-5. doi: 10.1038/nature07014. Epub 2008 Jun 4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Dr Bohr Gasse 3, 1030 Vienna, Austria.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18528333" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Argonaute Proteins ; Cell Cycle ; Cell Differentiation ; Cell Enlargement ; Cell Line ; *Cell Lineage ; Cell Nucleolus/metabolism ; Cell Size ; DNA-Binding Proteins/metabolism ; Drosophila Proteins/genetics/*metabolism ; Drosophila melanogaster/classification/*cytology/genetics ; Eukaryotic Initiation Factors ; Female ; MicroRNAs/genetics/*metabolism ; Mutation ; Neurons/cytology/metabolism ; Ovary/*cytology/metabolism ; Stem Cells/*cytology/*metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 3
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    Inactivation of the Fto gene protects from obesity (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-02-24
    Description: Several independent, genome-wide association studies have identified a strong correlation between body mass index and polymorphisms in the human FTO gene. Common variants in the first intron define a risk allele predisposing to obesity, with homozygotes for the risk allele weighing approximately 3 kilograms more than homozygotes for the low risk allele. Nevertheless, the functional role of FTO in energy homeostasis remains elusive. Here we show that the loss of Fto in mice leads to postnatal growth retardation and a significant reduction in adipose tissue and lean body mass. The leanness of Fto-deficient mice develops as a consequence of increased energy expenditure and systemic sympathetic activation, despite decreased spontaneous locomotor activity and relative hyperphagia. Taken together, these experiments provide, to our knowledge, the first direct demonstration that Fto is functionally involved in energy homeostasis by the control of energy expenditure.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fischer, Julia -- Koch, Linda -- Emmerling, Christian -- Vierkotten, Jeanette -- Peters, Thomas -- Bruning, Jens C -- Ruther, Ulrich -- England -- Nature. 2009 Apr 16;458(7240):894-8. doi: 10.1038/nature07848. Epub 2009 Feb 22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Animal Developmental and Molecular Biology, Heinrich Heine University, Universitatsstr. 1, D-40225 Dusseldorf, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19234441" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue/metabolism ; Adiposity/genetics ; Animals ; Animals, Newborn ; Body Weight/genetics ; Brain/metabolism ; Eating/physiology ; Embryo, Mammalian/anatomy & histology/embryology ; Energy Metabolism/genetics/physiology ; Female ; Growth Disorders/genetics/physiopathology ; Homozygote ; Hyperphagia/genetics ; Insulin/metabolism ; Male ; Mice ; Mixed Function Oxygenases ; Motor Activity/genetics/physiology ; Obesity/*genetics/prevention & control ; Oxo-Acid-Lyases/*deficiency/genetics/*metabolism ; Phenotype ; Sympathetic Nervous System/physiology ; Thinness/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 4
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    La difference (1989)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1989-03-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fischer, R -- New York, N.Y. -- Science. 1989 Mar 24;243(4898):1536.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2928786" target="_blank"〉PubMed〈/a〉
    Keywords: Body Composition ; *Energy Metabolism ; Female ; Humans ; Male ; *Sex Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 5
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    An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus (1990)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1990-08-17
    Description: The major small nuclear ribonucleoprotein particles (snRNPs) U1, U2, U4 + U6, and U5 have to be transported from the cytoplasm, where they are synthesized, to the nucleus, where they splice pre-messenger RNAs. Since the free core snRNP proteins in the cytoplasm do not enter the nucleus on their own, the nuclear location signal must either reside on the snRNA or be created as a result of snRNA-protein interaction. Here the involvement by the 5'-terminal cap of snRNA molecules in the nucleo-cytoplasmic transport of UsnRNPs has been studied by microinjection of synthetic U1 RNA molecules into frog oocytes; the U1 RNA bore either the normal cap (m3G) or a chemical derivative. Antibodies in the cytoplasm against the m3G cap inhibited the nuclear uptake of U1 snRNP. U1 RNA that was uncapped or contained an unnatural ApppG cap did not enter the nucleus, even though it carried a normal complement of protein molecules. When the ribose ring of the m3G cap was oxidized with periodate, nuclear transport of U1 snRNPs was severely inhibited. Finally, microinjection of m3G cap alone (but not m7G cap) into oocytes severely inhibited the transport of U1 snRNPs to the nucleus. These data suggest that one step in the nuclear uptake of U1 snRNPs involves the m3G cap structure.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fischer, U -- Luhrmann, R -- New York, N.Y. -- Science. 1990 Aug 17;249(4970):786-90.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut fur Molekularbiologie und Tumorforschung, Phillipps-Universitat Marburg, Federal Republic of Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2143847" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Biological Transport ; Cell Nucleus/*metabolism ; Cytoplasm/metabolism ; Female ; Guanosine/*analogs & derivatives/physiology ; Kinetics ; Mutation ; Oocytes/*ultrastructure ; RNA Caps/*physiology ; Ribonucleoproteins/genetics/*metabolism ; Ribonucleoproteins, Small Nuclear ; Signal Transduction/*physiology ; Xenopus laevis
    Print ISSN: 0036-8075
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  • 6
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    Widespread lateral gene transfer from intracellular bacteria to multicellular eukaryotes (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-09-01
    Description: Although common among bacteria, lateral gene transfer-the movement of genes between distantly related organisms-is thought to occur only rarely between bacteria and multicellular eukaryotes. However, the presence of endosymbionts, such as Wolbachia pipientis, within some eukaryotic germlines may facilitate bacterial gene transfers to eukaryotic host genomes. We therefore examined host genomes for evidence of gene transfer events from Wolbachia bacteria to their hosts. We found and confirmed transfers into the genomes of four insect and four nematode species that range from nearly the entire Wolbachia genome (〉1 megabase) to short (〈500 base pairs) insertions. Potential Wolbachia-to-host transfers were also detected computationally in three additional sequenced insect genomes. We also show that some of these inserted Wolbachia genes are transcribed within eukaryotic cells lacking endosymbionts. Therefore, heritable lateral gene transfer occurs into eukaryotic hosts from their prokaryote symbionts, potentially providing a mechanism for acquisition of new genes and functions.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dunning Hotopp, Julie C -- Clark, Michael E -- Oliveira, Deodoro C S G -- Foster, Jeremy M -- Fischer, Peter -- Munoz Torres, Monica C -- Giebel, Jonathan D -- Kumar, Nikhil -- Ishmael, Nadeeza -- Wang, Shiliang -- Ingram, Jessica -- Nene, Rahul V -- Shepard, Jessica -- Tomkins, Jeffrey -- Richards, Stephen -- Spiro, David J -- Ghedin, Elodie -- Slatko, Barton E -- Tettelin, Herve -- Werren, John H -- New York, N.Y. -- Science. 2007 Sep 21;317(5845):1753-6. Epub 2007 Aug 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Genomic Research, J. Craig Venter Institute, 9712 Medical Center Drive, Rockville, MD 20850, USA. jhotopp@som.umaryland.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17761848" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosome Mapping ; Crosses, Genetic ; DNA, Bacterial ; Drosophila/genetics/microbiology ; Female ; *Gene Transfer, Horizontal ; Genes, Bacterial ; In Situ Hybridization, Fluorescence ; Insects/*genetics/microbiology ; Male ; Molecular Sequence Data ; Nematoda/*genetics/microbiology ; Retroelements ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Symbiosis ; Wolbachia/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
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    Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-11-07
    Description: X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that is caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. ALD progression can be halted by allogeneic hematopoietic cell transplantation (HCT). We initiated a gene therapy trial in two ALD patients for whom there were no matched donors. Autologous CD34+ cells were removed from the patients, genetically corrected ex vivo with a lentiviral vector encoding wild-type ABCD1, and then re-infused into the patients after they had received myeloablative treatment. Over a span of 24 to 30 months of follow-up, we detected polyclonal reconstitution, with 9 to 14% of granulocytes, monocytes, and T and B lymphocytes expressing the ALD protein. These results strongly suggest that hematopoietic stem cells were transduced in the patients. Beginning 14 to 16 months after infusion of the genetically corrected cells, progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT. Thus, lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cartier, Nathalie -- Hacein-Bey-Abina, Salima -- Bartholomae, Cynthia C -- Veres, Gabor -- Schmidt, Manfred -- Kutschera, Ina -- Vidaud, Michel -- Abel, Ulrich -- Dal-Cortivo, Liliane -- Caccavelli, Laure -- Mahlaoui, Nizar -- Kiermer, Veronique -- Mittelstaedt, Denice -- Bellesme, Celine -- Lahlou, Najiba -- Lefrere, Francois -- Blanche, Stephane -- Audit, Muriel -- Payen, Emmanuel -- Leboulch, Philippe -- l'Homme, Bruno -- Bougneres, Pierre -- Von Kalle, Christof -- Fischer, Alain -- Cavazzana-Calvo, Marina -- Aubourg, Patrick -- New York, N.Y. -- Science. 2009 Nov 6;326(5954):818-23. doi: 10.1126/science.1171242.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉INSERM UMR745, University Paris-Descartes, 75279 Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19892975" target="_blank"〉PubMed〈/a〉
    Keywords: ATP-Binding Cassette Transporters/*genetics ; Adrenoleukodystrophy/genetics/pathology/*therapy ; Animals ; Brain/pathology ; Cell Differentiation ; Cell Lineage ; Child ; Disease Progression ; Fatty Acids/blood ; Female ; Gene Expression ; *Genetic Therapy ; *Genetic Vectors ; HIV-1/*genetics ; Hematopoiesis ; *Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells/*physiology/virology ; Humans ; Leukocytes, Mononuclear/metabolism ; Male ; Mice ; Microglia/cytology/metabolism ; Myeloablative Agonists/therapeutic use ; Transduction, Genetic ; Transplantation Conditioning ; Transplantation, Autologous ; Virus Integration
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
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  • 8
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    Differences between tight and loose cultures: a 33-nation study (2011)
    American Association for the Advancement of Science (AAAS)
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    Publication Date: 2011-05-28
    Description: With data from 33 nations, we illustrate the differences between cultures that are tight (have many strong norms and a low tolerance of deviant behavior) versus loose (have weak social norms and a high tolerance of deviant behavior). Tightness-looseness is part of a complex, loosely integrated multilevel system that comprises distal ecological and historical threats (e.g., high population density, resource scarcity, a history of territorial conflict, and disease and environmental threats), broad versus narrow socialization in societal institutions (e.g., autocracy, media regulations), the strength of everyday recurring situations, and micro-level psychological affordances (e.g., prevention self-guides, high regulatory strength, need for structure). This research advances knowledge that can foster cross-cultural understanding in a world of increasing global interdependence and has implications for modeling cultural change.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gelfand, Michele J -- Raver, Jana L -- Nishii, Lisa -- Leslie, Lisa M -- Lun, Janetta -- Lim, Beng Chong -- Duan, Lili -- Almaliach, Assaf -- Ang, Soon -- Arnadottir, Jakobina -- Aycan, Zeynep -- Boehnke, Klaus -- Boski, Pawel -- Cabecinhas, Rosa -- Chan, Darius -- Chhokar, Jagdeep -- D'Amato, Alessia -- Ferrer, Montse -- Fischlmayr, Iris C -- Fischer, Ronald -- Fulop, Marta -- Georgas, James -- Kashima, Emiko S -- Kashima, Yoshishima -- Kim, Kibum -- Lempereur, Alain -- Marquez, Patricia -- Othman, Rozhan -- Overlaet, Bert -- Panagiotopoulou, Penny -- Peltzer, Karl -- Perez-Florizno, Lorena R -- Ponomarenko, Larisa -- Realo, Anu -- Schei, Vidar -- Schmitt, Manfred -- Smith, Peter B -- Soomro, Nazar -- Szabo, Erna -- Taveesin, Nalinee -- Toyama, Midori -- Van de Vliert, Evert -- Vohra, Naharika -- Ward, Colleen -- Yamaguchi, Susumu -- New York, N.Y. -- Science. 2011 May 27;332(6033):1100-4. doi: 10.1126/science.1197754.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Psychology, University of Maryland, College Park, MD 20742, USA. mgelfand@psyc.umd.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21617077" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; *Behavior ; *Cross-Cultural Comparison ; *Cultural Characteristics ; Female ; Government ; Humans ; Male ; Permissiveness ; Political Systems ; Population Density ; *Social Behavior ; *Social Conformity ; Social Control, Formal ; *Social Values ; Young Adult
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
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  • 9
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    Cytomegalovirus vectors violate CD8+ T cell epitope recognition paradigms (2013)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2013-05-25
    Description: CD8(+) T cell responses focus on a small fraction of pathogen- or vaccine-encoded peptides, and for some pathogens, these restricted recognition hierarchies limit the effectiveness of antipathogen immunity. We found that simian immunodeficiency virus (SIV) protein-expressing rhesus cytomegalovirus (RhCMV) vectors elicit SIV-specific CD8(+) T cells that recognize unusual, diverse, and highly promiscuous epitopes, including dominant responses to epitopes restricted by class II major histocompatibility complex (MHC) molecules. Induction of canonical SIV epitope-specific CD8(+) T cell responses is suppressed by the RhCMV-encoded Rh189 gene (corresponding to human CMV US11), and the promiscuous MHC class I- and class II-restricted CD8(+) T cell responses occur only in the absence of the Rh157.5, Rh157.4, and Rh157.6 (human CMV UL128, UL130, and UL131) genes. Thus, CMV vectors can be genetically programmed to achieve distinct patterns of CD8(+) T cell epitope recognition.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816976/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816976/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hansen, Scott G -- Sacha, Jonah B -- Hughes, Colette M -- Ford, Julia C -- Burwitz, Benjamin J -- Scholz, Isabel -- Gilbride, Roxanne M -- Lewis, Matthew S -- Gilliam, Awbrey N -- Ventura, Abigail B -- Malouli, Daniel -- Xu, Guangwu -- Richards, Rebecca -- Whizin, Nathan -- Reed, Jason S -- Hammond, Katherine B -- Fischer, Miranda -- Turner, John M -- Legasse, Alfred W -- Axthelm, Michael K -- Edlefsen, Paul T -- Nelson, Jay A -- Lifson, Jeffrey D -- Fruh, Klaus -- Picker, Louis J -- P01 AI094417/AI/NIAID NIH HHS/ -- P51 OD 011092/OD/NIH HHS/ -- R01 AI059457/AI/NIAID NIH HHS/ -- R01 AI060392/AI/NIAID NIH HHS/ -- U24 OD010850/OD/NIH HHS/ -- New York, N.Y. -- Science. 2013 May 24;340(6135):1237874. doi: 10.1126/science.1237874.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Vaccine and Gene Therapy Institute and Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR 97006, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23704576" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; CD8-Positive T-Lymphocytes/*immunology ; Cytokines/immunology ; Cytomegalovirus/genetics/*immunology ; Epitopes, T-Lymphocyte/*immunology ; Female ; Genetic Vectors/genetics/*immunology ; Histocompatibility Antigens Class II/immunology ; Humans ; Macaca mulatta ; Male ; Membrane Glycoproteins/genetics ; SAIDS Vaccines/administration & dosage/*immunology ; Viral Envelope Proteins/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
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    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment (2013)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2013-06-01
    Description: A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R(2) approximately 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for approximately 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rietveld, Cornelius A -- Medland, Sarah E -- Derringer, Jaime -- Yang, Jian -- Esko, Tonu -- Martin, Nicolas W -- Westra, Harm-Jan -- Shakhbazov, Konstantin -- Abdellaoui, Abdel -- Agrawal, Arpana -- Albrecht, Eva -- Alizadeh, Behrooz Z -- Amin, Najaf -- Barnard, John -- Baumeister, Sebastian E -- Benke, Kelly S -- Bielak, Lawrence F -- Boatman, Jeffrey A -- Boyle, Patricia A -- Davies, Gail -- de Leeuw, Christiaan -- Eklund, Niina -- Evans, Daniel S -- Ferhmann, Rudolf -- Fischer, Krista -- Gieger, Christian -- Gjessing, Hakon K -- Hagg, Sara -- Harris, Jennifer R -- Hayward, Caroline -- Holzapfel, Christina -- Ibrahim-Verbaas, Carla A -- Ingelsson, Erik -- Jacobsson, Bo -- Joshi, Peter K -- Jugessur, Astanand -- Kaakinen, Marika -- Kanoni, Stavroula -- Karjalainen, Juha -- Kolcic, Ivana -- Kristiansson, Kati -- Kutalik, Zoltan -- Lahti, Jari -- Lee, Sang H -- Lin, Peng -- Lind, Penelope A -- Liu, Yongmei -- Lohman, Kurt -- Loitfelder, Marisa -- McMahon, George -- Vidal, Pedro Marques -- Meirelles, Osorio -- Milani, Lili -- Myhre, Ronny -- Nuotio, Marja-Liisa -- Oldmeadow, Christopher J -- Petrovic, Katja E -- Peyrot, Wouter J -- Polasek, Ozren -- Quaye, Lydia -- Reinmaa, Eva -- Rice, John P -- Rizzi, Thais S -- Schmidt, Helena -- Schmidt, Reinhold -- Smith, Albert V -- Smith, Jennifer A -- Tanaka, Toshiko -- Terracciano, Antonio -- van der Loos, Matthijs J H M -- Vitart, Veronique -- Volzke, Henry -- Wellmann, Jurgen -- Yu, Lei -- Zhao, Wei -- Allik, Juri -- Attia, John R -- Bandinelli, Stefania -- Bastardot, Francois -- Beauchamp, Jonathan -- Bennett, David A -- Berger, Klaus -- Bierut, Laura J -- Boomsma, Dorret I -- Bultmann, Ute -- Campbell, Harry -- Chabris, Christopher F -- Cherkas, Lynn -- Chung, Mina K -- Cucca, Francesco -- de Andrade, Mariza -- De Jager, Philip L -- De Neve, Jan-Emmanuel -- Deary, Ian J -- Dedoussis, George V -- Deloukas, Panos -- Dimitriou, Maria -- Eiriksdottir, Guethny -- Elderson, Martin F -- Eriksson, Johan G -- Evans, David M -- Faul, Jessica D -- Ferrucci, Luigi -- Garcia, Melissa E -- Gronberg, Henrik -- Guethnason, Vilmundur -- Hall, Per -- Harris, Juliette M -- Harris, Tamara B -- Hastie, Nicholas D -- Heath, Andrew C -- Hernandez, Dena G -- Hoffmann, Wolfgang -- Hofman, Adriaan -- Holle, Rolf -- Holliday, Elizabeth G -- Hottenga, Jouke-Jan -- Iacono, William G -- Illig, Thomas -- Jarvelin, Marjo-Riitta -- Kahonen, Mika -- Kaprio, Jaakko -- Kirkpatrick, Robert M -- Kowgier, Matthew -- Latvala, Antti -- Launer, Lenore J -- Lawlor, Debbie A -- Lehtimaki, Terho -- Li, Jingmei -- Lichtenstein, Paul -- Lichtner, Peter -- Liewald, David C -- Madden, Pamela A -- Magnusson, Patrik K E -- Makinen, Tomi E -- Masala, Marco -- McGue, Matt -- Metspalu, Andres -- Mielck, Andreas -- Miller, Michael B -- Montgomery, Grant W -- Mukherjee, Sutapa -- Nyholt, Dale R -- Oostra, Ben A -- Palmer, Lyle J -- Palotie, Aarno -- Penninx, Brenda W J H -- Perola, Markus -- Peyser, Patricia A -- Preisig, Martin -- Raikkonen, Katri -- Raitakari, Olli T -- Realo, Anu -- Ring, Susan M -- Ripatti, Samuli -- Rivadeneira, Fernando -- Rudan, Igor -- Rustichini, Aldo -- Salomaa, Veikko -- Sarin, Antti-Pekka -- Schlessinger, David -- Scott, Rodney J -- Snieder, Harold -- St Pourcain, Beate -- Starr, John M -- Sul, Jae Hoon -- Surakka, Ida -- Svento, Rauli -- Teumer, Alexander -- LifeLines Cohort Study -- Tiemeier, Henning -- van Rooij, Frank J A -- Van Wagoner, David R -- Vartiainen, Erkki -- Viikari, Jorma -- Vollenweider, Peter -- Vonk, Judith M -- Waeber, Gerard -- Weir, David R -- Wichmann, H-Erich -- Widen, Elisabeth -- Willemsen, Gonneke -- Wilson, James F -- Wright, Alan F -- Conley, Dalton -- Davey-Smith, George -- Franke, Lude -- Groenen, Patrick J F -- Hofman, Albert -- Johannesson, Magnus -- Kardia, Sharon L R -- Krueger, Robert F -- Laibson, David -- Martin, Nicholas G -- Meyer, Michelle N -- Posthuma, Danielle -- Thurik, A Roy -- Timpson, Nicholas J -- Uitterlinden, Andre G -- van Duijn, Cornelia M -- Visscher, Peter M -- Benjamin, Daniel J -- Cesarini, David -- Koellinger, Philipp D -- AA09367/AA/NIAAA NIH HHS/ -- AA11886/AA/NIAAA NIH HHS/ -- BB/F019394/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- CZB/4/710/Chief Scientist Office/United Kingdom -- DA024417/DA/NIDA NIH HHS/ -- DA029377/DA/NIDA NIH HHS/ -- DA05147/DA/NIDA NIH HHS/ -- DA13240/DA/NIDA NIH HHS/ -- ETM/55/Chief Scientist Office/United Kingdom -- F31 DA029377/DA/NIDA NIH HHS/ -- G0600705/Medical Research Council/United Kingdom -- G0700704/Medical Research Council/United Kingdom -- G9815508/Medical Research Council/United Kingdom -- K05 AA017688/AA/NIAAA NIH HHS/ -- MC_PC_U127561128/Medical Research Council/United Kingdom -- MC_UU_12013/1/Medical Research Council/United Kingdom -- MC_UU_12013/3/Medical Research Council/United Kingdom -- MC_UU_12013/5/Medical Research Council/United Kingdom -- MH016880/MH/NIMH NIH HHS/ -- MH066140/MH/NIMH NIH HHS/ -- MR/K026992/1/Medical Research Council/United Kingdom -- P01 AG005842/AG/NIA NIH HHS/ -- P01 CA089392/CA/NCI NIH HHS/ -- P01 GM099568/GM/NIGMS NIH HHS/ -- P01-AG005842/AG/NIA NIH HHS/ -- P01-AG005842-20S2/AG/NIA NIH HHS/ -- P30 AG012810/AG/NIA NIH HHS/ -- P30-AG012810/AG/NIA NIH HHS/ -- R01 AA009367/AA/NIAAA NIH HHS/ -- R01 AA011886/AA/NIAAA NIH HHS/ -- R01 DA013240/DA/NIDA NIH HHS/ -- R01 HL090620/HL/NHLBI NIH HHS/ -- R01 HL105756/HL/NHLBI NIH HHS/ -- R01 HL111314/HL/NHLBI NIH HHS/ -- R01 MH066140/MH/NIMH NIH HHS/ -- R37 DA005147/DA/NIDA NIH HHS/ -- T32 AG000186/AG/NIA NIH HHS/ -- T32 MH016880/MH/NIMH NIH HHS/ -- T32-AG000186-23/AG/NIA NIH HHS/ -- U01 AG009740/AG/NIA NIH HHS/ -- U01 DA024417/DA/NIDA NIH HHS/ -- Z01 AG001050-01/Intramural NIH HHS/ -- ZIA AG000196-03/Intramural NIH HHS/ -- ZIA AG000196-04/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2013 Jun 21;340(6139):1467-71. doi: 10.1126/science.1235488. Epub 2013 May 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23722424" target="_blank"〉PubMed〈/a〉
    Keywords: Cognition ; *Educational Status ; Endophenotypes ; Female ; Genetic Loci ; *Genome-Wide Association Study ; Humans ; Male ; Multifactorial Inheritance ; *Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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