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  • Female  (11)
  • Quantum optics, physics of lasers, nonlinear optics, classical optics
  • American Association for the Advancement of Science (AAAS)  (11)
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  • 1
    Publication Date: 2010-07-03
    Description: Residents of the Tibetan Plateau show heritable adaptations to extreme altitude. We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with an average coverage of 18x per individual. Genes showing population-specific allele frequency changes, which represent strong candidates for altitude adaptation, were identified. The strongest signal of natural selection came from endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription factor involved in response to hypoxia. One single-nucleotide polymorphism (SNP) at EPAS1 shows a 78% frequency difference between Tibetan and Han samples, representing the fastest allele frequency change observed at any human gene to date. This SNP's association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711608/" 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/PMC3711608/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yi, Xin -- Liang, Yu -- Huerta-Sanchez, Emilia -- Jin, Xin -- Cuo, Zha Xi Ping -- Pool, John E -- Xu, Xun -- Jiang, Hui -- Vinckenbosch, Nicolas -- Korneliussen, Thorfinn Sand -- Zheng, Hancheng -- Liu, Tao -- He, Weiming -- Li, Kui -- Luo, Ruibang -- Nie, Xifang -- Wu, Honglong -- Zhao, Meiru -- Cao, Hongzhi -- Zou, Jing -- Shan, Ying -- Li, Shuzheng -- Yang, Qi -- Asan -- Ni, Peixiang -- Tian, Geng -- Xu, Junming -- Liu, Xiao -- Jiang, Tao -- Wu, Renhua -- Zhou, Guangyu -- Tang, Meifang -- Qin, Junjie -- Wang, Tong -- Feng, Shuijian -- Li, Guohong -- Huasang -- Luosang, Jiangbai -- Wang, Wei -- Chen, Fang -- Wang, Yading -- Zheng, Xiaoguang -- Li, Zhuo -- Bianba, Zhuoma -- Yang, Ge -- Wang, Xinping -- Tang, Shuhui -- Gao, Guoyi -- Chen, Yong -- Luo, Zhen -- Gusang, Lamu -- Cao, Zheng -- Zhang, Qinghui -- Ouyang, Weihan -- Ren, Xiaoli -- Liang, Huiqing -- Zheng, Huisong -- Huang, Yebo -- Li, Jingxiang -- Bolund, Lars -- Kristiansen, Karsten -- Li, Yingrui -- Zhang, Yong -- Zhang, Xiuqing -- Li, Ruiqiang -- Li, Songgang -- Yang, Huanming -- Nielsen, Rasmus -- Wang, Jun -- Wang, Jian -- R01 HG003229/HG/NHGRI NIH HHS/ -- R01 MH084695/MH/NIMH NIH HHS/ -- R01HG003229/HG/NHGRI NIH HHS/ -- R01MHG084695/PHS HHS/ -- New York, N.Y. -- Science. 2010 Jul 2;329(5987):75-8. doi: 10.1126/science.1190371.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉BGI-Shenzhen, Shenzhen 518083, China.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20595611" target="_blank"〉PubMed〈/a〉
    Keywords: Acclimatization/*genetics ; *Altitude ; Asian Continental Ancestry Group/genetics ; Basic Helix-Loop-Helix Transcription Factors/*genetics/physiology ; Bayes Theorem ; China ; Erythrocyte Count ; Ethnic Groups/genetics ; *Exons ; Female ; Gene Frequency ; Genetic Association Studies ; *Genome, Human ; Hemoglobins/analysis ; Humans ; Male ; Oxygen/blood ; Polymorphism, Single Nucleotide ; *Selection, Genetic ; Sequence Analysis, DNA ; Tibet
    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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  • 2
    Publication Date: 2005-10-08
    Description: Most people hold beliefs about personality characteristics typical of members of their own and others' cultures. These perceptions of national character may be generalizations from personal experience, stereotypes with a "kernel of truth," or inaccurate stereotypes. We obtained national character ratings of 3989 people from 49 cultures and compared them with the average personality scores of culture members assessed by observer ratings and self-reports. National character ratings were reliable but did not converge with assessed traits. Perceptions of national character thus appear to be unfounded stereotypes that may serve the function of maintaining a national identity.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775052/" 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/PMC2775052/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Terracciano, A -- Abdel-Khalek, A M -- Adam, N -- Adamovova, L -- Ahn, C-k -- Ahn, H-n -- Alansari, B M -- Alcalay, L -- Allik, J -- Angleitner, A -- Avia, M D -- Ayearst, L E -- Barbaranelli, C -- Beer, A -- Borg-Cunen, M A -- Bratko, D -- Brunner-Sciarra, M -- Budzinski, L -- Camart, N -- Dahourou, D -- De Fruyt, F -- de Lima, M P -- del Pilar, G E H -- Diener, E -- Falzon, R -- Fernando, K -- Fickova, E -- Fischer, R -- Flores-Mendoza, C -- Ghayur, M A -- Gulgoz, S -- Hagberg, B -- Halberstadt, J -- Halim, M S -- Hrebickova, M -- Humrichouse, J -- Jensen, H H -- Jocic, D D -- Jonsson, F H -- Khoury, B -- Klinkosz, W -- Knezevic, G -- Lauri, M A -- Leibovich, N -- Martin, T A -- Marusic, I -- Mastor, K A -- Matsumoto, D -- McRorie, M -- Meshcheriakov, B -- Mortensen, E L -- Munyae, M -- Nagy, J -- Nakazato, K -- Nansubuga, F -- Oishi, S -- Ojedokun, A O -- Ostendorf, F -- Paulhus, D L -- Pelevin, S -- Petot, J-M -- Podobnik, N -- Porrata, J L -- Pramila, V S -- Prentice, G -- Realo, A -- Reategui, N -- Rolland, J-P -- Rossier, J -- Ruch, W -- Rus, V S -- Sanchez-Bernardos, M L -- Schmidt, V -- Sciculna-Calleja, S -- Sekowski, A -- Shakespeare-Finch, J -- Shimonaka, Y -- Simonetti, F -- Sineshaw, T -- Siuta, J -- Smith, P B -- Trapnell, P D -- Trobst, K K -- Wang, L -- Yik, M -- Zupancic, A -- McCrae, R R -- Z99 AG999999/Intramural NIH HHS/ -- ZIA AG000180-25/Intramural NIH HHS/ -- ZIA AG000180-26/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2005 Oct 7;310(5745):96-100.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Institute on Aging, NIH, DHHS, Gerontology Research Center, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA. terraccianoa@grc.nia.nih.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16210536" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; *Character ; Cross-Cultural Comparison ; *Culture ; *Ethnic Groups ; Female ; Humans ; Male ; *Personality ; Personality Assessment ; Reproducibility of Results ; Social Perception ; Stereotyping ; Surveys and Questionnaires
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  • 3
    Publication Date: 2005-01-08
    Description: Segmental duplications in the human genome are selectively enriched for genes involved in immunity, although the phenotypic consequences for host defense are unknown. We show that there are significant interindividual and interpopulation differences in the copy number of a segmental duplication encompassing the gene encoding CCL3L1 (MIP-1alphaP), a potent human immunodeficiency virus-1 (HIV-1)-suppressive chemokine and ligand for the HIV coreceptor CCR5. Possession of a CCL3L1 copy number lower than the population average is associated with markedly enhanced HIV/acquired immunodeficiency syndrome (AIDS) susceptibility. This susceptibility is even greater in individuals who also possess disease-accelerating CCR5 genotypes. This relationship between CCL3L1 dose and altered HIV/AIDS susceptibility points to a central role for CCL3L1 in HIV/AIDS pathogenesis and indicates that differences in the dose of immune response genes may constitute a genetic basis for variable responses to infectious diseases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gonzalez, Enrique -- Kulkarni, Hemant -- Bolivar, Hector -- Mangano, Andrea -- Sanchez, Racquel -- Catano, Gabriel -- Nibbs, Robert J -- Freedman, Barry I -- Quinones, Marlon P -- Bamshad, Michael J -- Murthy, Krishna K -- Rovin, Brad H -- Bradley, William -- Clark, Robert A -- Anderson, Stephanie A -- O'connell, Robert J -- Agan, Brian K -- Ahuja, Seema S -- Bologna, Rosa -- Sen, Luisa -- Dolan, Matthew J -- Ahuja, Sunil K -- AI043279/AI/NIAID NIH HHS/ -- AI046326/AI/NIAID NIH HHS/ -- MH069270/MH/NIMH NIH HHS/ -- New York, N.Y. -- Science. 2005 Mar 4;307(5714):1434-40. Epub 2005 Jan 6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Veterans Administration Research Center for AIDS and HIV-1 Infection, South Texas Veterans Health Care System, and Department of Medicine, University of Texas Health Science Center, San Antonio, TX 78229, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15637236" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Aged ; Animals ; Chemokines, CC/*genetics/metabolism ; Child ; Cohort Studies ; Continental Population Groups/genetics ; Disease Progression ; Ethnic Groups/genetics ; Female ; *Gene Dosage ; *Gene Duplication ; *Genetic Predisposition to Disease ; Genotype ; HIV Infections/epidemiology/*genetics/*immunology/virology ; *HIV-1/metabolism ; Humans ; Male ; Middle Aged ; Pan troglodytes/genetics ; Phenotype ; Public Health ; Receptors, CCR5/genetics/metabolism ; Selection, Genetic
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  • 4
    Publication Date: 2005-10-01
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Grant, Robert M -- Buchbinder, Susan -- Cates, Willard Jr -- Clarke, Edith -- Coates, Thomas -- Cohen, Myron S -- Delaney, Martin -- Flores, Guiselly -- Goicochea, Pedro -- Gonsalves, Gregg -- Harrington, Mark -- Lama, Javier R -- MacQueen, Kathleen M -- Moore, John P -- Peterson, Leigh -- Sanchez, Jorge -- Thompson, Melanie -- Wainberg, Mark A -- New York, N.Y. -- Science. 2005 Sep 30;309(5744):2170-1.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Gladstone Institute of Virology and Immunology, San Francisco, CA, USA. rgrant@itsa.ucsf.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16195446" target="_blank"〉PubMed〈/a〉
    Keywords: Adenine/adverse effects/*analogs & derivatives/economics/therapeutic use ; Africa ; Anti-HIV Agents/adverse effects/economics/*therapeutic use ; Asia ; Consumer Participation ; *Controlled Clinical Trials as Topic/standards ; Counseling ; Developing Countries ; Drug Costs ; Female ; HIV Infections/*prevention & control ; Health Services Accessibility ; Humans ; Latin America ; Male ; Organophosphonates/adverse effects/economics/*therapeutic use ; Patient Selection ; Tenofovir
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  • 5
    Publication Date: 2006-11-04
    Description: Reduction of core body temperature has been proposed to contribute to the increased life span and the antiaging effects conferred by calorie restriction (CR). Validation of this hypothesis has been difficult in homeotherms, primarily due to a lack of experimental models. We report that transgenic mice engineered to overexpress the uncoupling protein 2 in hypocretin neurons (Hcrt-UCP2) have elevated hypothalamic temperature. The effects of local temperature elevation on the central thermostat resulted in a 0.3 degrees to 0.5 degrees C reduction of the core body temperature. Fed ad libitum, Hcrt-UCP2 transgenic mice had the same caloric intake as their wild-type littermates but had increased energy efficiency and a greater median life span (12% increase in males; 20% increase in females). Thus, modest, sustained reduction of core body temperature prolonged life span independent of altered diet or CR.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Conti, Bruno -- Sanchez-Alavez, Manuel -- Winsky-Sommerer, Raphaelle -- Morale, Maria Concetta -- Lucero, Jacinta -- Brownell, Sara -- Fabre, Veronique -- Huitron-Resendiz, Salvador -- Henriksen, Steven -- Zorrilla, Eric P -- de Lecea, Luis -- Bartfai, Tamas -- MH58543/MH/NIMH NIH HHS/ -- NS043501/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2006 Nov 3;314(5800):825-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Harold L. Dorris Neurological Research Center, Scripps Research Institute, La Jolla, CA 92037, USA. bconti@scripps.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17082459" target="_blank"〉PubMed〈/a〉
    Keywords: Aging ; Animals ; *Body Temperature ; Body Temperature Regulation ; Body Weight ; Circadian Rhythm ; Drinking ; Eating ; Energy Metabolism ; Female ; Hypothalamic Area, Lateral/cytology/metabolism ; Intracellular Signaling Peptides and Proteins/metabolism ; Ion Channels/genetics/physiology ; *Longevity ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mitochondrial Proteins/genetics/physiology ; Neurons/metabolism ; Neuropeptides/metabolism ; Orexins ; Preoptic Area/cytology/*physiology ; Thermogenesis
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  • 6
    Publication Date: 2006-09-30
    Description: The role of the adaptive immune response in controlling the growth and recurrence of human tumors has been controversial. We characterized the tumor-infiltrating immune cells in large cohorts of human colorectal cancers by gene expression profiling and in situ immunohistochemical staining. Collectively, the immunological data (the type, density, and location of immune cells within the tumor samples) were found to be a better predictor of patient survival than the histopathological methods currently used to stage colorectal cancer. The results were validated in two additional patient populations. These data support the hypothesis that the adaptive immune response influences the behavior of human tumors. In situ analysis of tumor-infiltrating immune cells may therefore be a valuable prognostic tool in the treatment of colorectal cancer and possibly other malignancies.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Galon, Jerome -- Costes, Anne -- Sanchez-Cabo, Fatima -- Kirilovsky, Amos -- Mlecnik, Bernhard -- Lagorce-Pages, Christine -- Tosolini, Marie -- Camus, Matthieu -- Berger, Anne -- Wind, Philippe -- Zinzindohoue, Franck -- Bruneval, Patrick -- Cugnenc, Paul-Henri -- Trajanoski, Zlatko -- Fridman, Wolf-Herman -- Pages, Franck -- New York, N.Y. -- Science. 2006 Sep 29;313(5795):1960-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉INSERM U 255, Paris, 75006 France; Universite Paris-Descartes Paris 5, Faculte de Medecine, Paris, 75006 France. jerome.galon@u255.bhdc.jussieu.fr〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17008531" target="_blank"〉PubMed〈/a〉
    Keywords: Antigens, CD3/*analysis ; Antigens, CD45/analysis ; CD8-Positive T-Lymphocytes/immunology ; Cohort Studies ; Colorectal Neoplasms/genetics/*immunology/pathology ; Disease Progression ; Disease-Free Survival ; Female ; Gene Expression Profiling ; Humans ; Immunohistochemistry ; Immunologic Memory ; Lymphatic Metastasis ; Lymphocyte Count ; Lymphocytes, Tumor-Infiltrating/*immunology ; Male ; Neoplasm Invasiveness ; Neoplasm Recurrence, Local/immunology/prevention & control ; Neoplasm Staging ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; Prognosis ; Survival Analysis ; T-Lymphocyte Subsets/*immunology ; Th1 Cells/immunology
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  • 7
    Publication Date: 1995-03-03
    Description: Cell cycle checkpoints enhance genetic fidelity by causing arrest at specific stages of the cell cycle when previous events have not been completed. The tumor suppressor p53 has been implicated in a G1 checkpoint. To investigate whether p53 also participates in a mitotic checkpoint, cultured fibroblasts from p53-deficient mouse embryos were exposed to spindle inhibitors. The fibroblasts underwent multiple rounds of DNA synthesis without completing chromosome segregation, thus forming tetraploid and octaploid cells. Deficiency of p53 was also associated with the development of tetraploidy in vivo. These results suggest that murine p53 is a component of a spindle checkpoint that ensures the maintenance of diploidy.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cross, S M -- Sanchez, C A -- Morgan, C A -- Schimke, M K -- Ramel, S -- Idzerda, R L -- Raskind, W H -- Reid, B J -- R01CA55814/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1995 Mar 3;267(5202):1353-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, University of Washington, Seattle 98195.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7871434" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Cell Cycle ; Cells, Cultured ; DNA/biosynthesis ; Demecolcine/pharmacology ; Diploidy ; Female ; Genes, p53 ; Male ; Mice ; *Mitosis ; Nocodazole/pharmacology ; Ploidies ; Spindle Apparatus/*physiology ; Tumor Suppressor Protein p53/*physiology
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  • 8
    Publication Date: 2015-09-19
    Description: The indigenous people of Greenland, the Inuit, have lived for a long time in the extreme conditions of the Arctic, including low annual temperatures, and with a specialized diet rich in protein and fatty acids, particularly omega-3 polyunsaturated fatty acids (PUFAs). A scan of Inuit genomes for signatures of adaptation revealed signals at several loci, with the strongest signal located in a cluster of fatty acid desaturases that determine PUFA levels. The selected alleles are associated with multiple metabolic and anthropometric phenotypes and have large effect sizes for weight and height, with the effect on height replicated in Europeans. By analyzing membrane lipids, we found that the selected alleles modulate fatty acid composition, which may affect the regulation of growth hormones. Thus, the Inuit have genetic and physiological adaptations to a diet rich in PUFAs.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fumagalli, Matteo -- Moltke, Ida -- Grarup, Niels -- Racimo, Fernando -- Bjerregaard, Peter -- Jorgensen, Marit E -- Korneliussen, Thorfinn S -- Gerbault, Pascale -- Skotte, Line -- Linneberg, Allan -- Christensen, Cramer -- Brandslund, Ivan -- Jorgensen, Torben -- Huerta-Sanchez, Emilia -- Schmidt, Erik B -- Pedersen, Oluf -- Hansen, Torben -- Albrechtsen, Anders -- Nielsen, Rasmus -- R01-HG003229/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2015 Sep 18;349(6254):1343-7. doi: 10.1126/science.aab2319.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK. Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark. ; Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. ; National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark. Greenland Center for Health Research, University of Greenland, Nuuk, Greenland. ; National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark. Steno Diabetes Center, 2820 Gentofte, Denmark. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark. ; Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK. Department of Anthropology, University College London, London WC1H 0BW, UK. ; Research Centre for Prevention and Health, Capital Region of Denmark, Copenhagen, Denmark. Department of Clinical Experimental Research, Rigshospitalet, Glostrup, Denmark. Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. ; Department of Medicine, Lillebaelt Hospital, Vejle, Denmark. ; Department of Clinical Biochemistry, Lillebaelt Hospital, Vejle, Denmark. Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark. ; Research Centre for Prevention and Health, Capital Region of Denmark, Copenhagen, Denmark. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Faculty of Medicine, University of Aalborg, Aalborg, Denmark. ; School of Natural Sciences, University of California-Merced, Merced, CA 95343, USA. ; Faculty of Medicine, University of Aalborg, Aalborg, Denmark. Department of Cardiology, Aalborg University Hospital, 9100 Aalborg, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu. ; Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. Department of Statistics, University of California-Berkeley, Berkeley, CA 94720, USA. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26383953" target="_blank"〉PubMed〈/a〉
    Keywords: Acclimatization/*genetics ; Alleles ; Arctic Regions ; Body Height/genetics ; Body Weight/genetics ; Chromosomes, Human, Pair 11/genetics ; Climate ; *Diet, High-Fat ; Fatty Acids, Omega-3/*administration & dosage/analysis ; Female ; Genetic Loci ; Genome, Human/genetics ; Genome-Wide Association Study ; Greenland ; Humans ; Inuits/*genetics ; Linkage Disequilibrium ; Male ; Membrane Lipids/analysis/genetics ; Polymorphism, Single Nucleotide ; Selection, Genetic
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  • 9
    Publication Date: 2016-01-02
    Description: CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic diseases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in the dystrophin gene. To correct DMD by skipping mutant dystrophin exons in postnatal muscle tissue in vivo, we used adeno-associated virus-9 (AAV9) to deliver gene-editing components to postnatal mdx mice, a model of DMD. Different modes of AAV9 delivery were systematically tested, including intraperitoneal at postnatal day 1 (P1), intramuscular at P12, and retro-orbital at P18. Each of these methods restored dystrophin protein expression in cardiac and skeletal muscle to varying degrees, and expression increased from 3 to 12 weeks after injection. Postnatal gene editing also enhanced skeletal muscle function, as measured by grip strength tests 4 weeks after injection. This method provides a potential means of correcting mutations responsible for DMD and other monogenic disorders after birth.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760628/" 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/PMC4760628/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Long, Chengzu -- Amoasii, Leonela -- Mireault, Alex A -- McAnally, John R -- Li, Hui -- Sanchez-Ortiz, Efrain -- Bhattacharyya, Samadrita -- Shelton, John M -- Bassel-Duby, Rhonda -- Olson, Eric N -- DK-099653/DK/NIDDK NIH HHS/ -- HL-077439/HL/NHLBI NIH HHS/ -- HL-093039/HL/NHLBI NIH HHS/ -- HL-111665/HL/NHLBI NIH HHS/ -- R01 DK099653/DK/NIDDK NIH HHS/ -- R01 HL077439/HL/NHLBI NIH HHS/ -- R01 HL093039/HL/NHLBI NIH HHS/ -- R01 HL111665/HL/NHLBI NIH HHS/ -- U01 HL100401/HL/NHLBI NIH HHS/ -- U01-HL-100401/HL/NHLBI NIH HHS/ -- U54 HD 087351/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2016 Jan 22;351(6271):400-3. doi: 10.1126/science.aad5725. Epub 2015 Dec 31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. ; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. ; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. eric.olson@utsouthwestern.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26721683" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *CRISPR-Cas Systems ; Dependovirus ; Disease Models, Animal ; Dystrophin/*genetics ; Exons/genetics ; Female ; Forelimb/physiopathology ; Genetic Therapy/*methods ; Genome/genetics ; Hand Strength ; Male ; Mice ; Mice, Inbred mdx ; Muscle, Skeletal/metabolism ; Muscular Dystrophy, Duchenne/genetics/*therapy ; Myocardium/metabolism
    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
    Publication Date: 2016-03-19
    Description: De Montjoye et al. (Reports, 30 January 2015, p. 536) claimed that most individuals can be reidentified from a deidentified transaction database and that anonymization mechanisms are not effective against reidentification. We demonstrate that anonymization can be performed by techniques well established in the literature.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sanchez, David -- Martinez, Sergio -- Domingo-Ferrer, Josep -- New York, N.Y. -- Science. 2016 Mar 18;351(6279):1274. doi: 10.1126/science.aad9295.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉United Nations Educational, Scientific, and Cultural Organization (UNESCO) Chair in Data Privacy, Department of Computer Engineering and Mathematics, Universitat Rovira i Virgili (URV), Avenue Paisos Catalans, 26, E-43007, Tarragona, Catalonia. david.sanchez@urv.cat. ; United Nations Educational, Scientific, and Cultural Organization (UNESCO) Chair in Data Privacy, Department of Computer Engineering and Mathematics, Universitat Rovira i Virgili (URV), Avenue Paisos Catalans, 26, E-43007, Tarragona, Catalonia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26989243" target="_blank"〉PubMed〈/a〉
    Keywords: *Commerce ; *Data Collection ; Female ; Humans ; *Information Dissemination ; Male ; *Privacy
    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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