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  • 1
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    CCR5 promoter alleles and specific DNA binding factors (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-07-01
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bream, J H -- Young, H A -- Rice, N -- Martin, M P -- Smith, M W -- Carrington, M -- O'Brien, S J -- New York, N.Y. -- Science. 1999 Apr 9;284(5412):223.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Experimental Immunology, National Cancer Institute-Frederick Cancer, Research and Development Center (NCI-FCRDC), Frederick, MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15224670" target="_blank"〉PubMed〈/a〉
    Keywords: Acquired Immunodeficiency Syndrome/genetics/immunology/mortality/*physiopathology ; *Alleles ; Binding Sites ; Cell Nucleus/metabolism ; DNA-Binding Proteins/*metabolism ; Disease Progression ; Electrophoretic Mobility Shift Assay ; Humans ; Nuclear Proteins/*metabolism ; Oligodeoxyribonucleotides/metabolism ; Polymorphism, Single Nucleotide ; *Promoter Regions, Genetic ; Receptors, CCR5/*genetics ; Survival Rate ; T-Lymphocytes ; Transcription Factors/metabolism
    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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    HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage (1999)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1999-03-12
    Description: A selective advantage against infectious disease associated with increased heterozygosity at the human major histocompatibility complex [human leukocyte antigen (HLA) class I and class II] is believed to play a major role in maintaining the extraordinary allelic diversity of these genes. Maximum HLA heterozygosity of class I loci (A, B, and C) delayed acquired immunodeficiency syndrome (AIDS) onset among patients infected with human immunodeficiency virus-type 1 (HIV-1), whereas individuals who were homozygous for one or more loci progressed rapidly to AIDS and death. The HLA class I alleles B*35 and Cw*04 were consistently associated with rapid development of AIDS-defining conditions in Caucasians. The extended survival of 28 to 40 percent of HIV-1-infected Caucasian patients who avoided AIDS for ten or more years can be attributed to their being fully heterozygous at HLA class I loci, to their lacking the AIDS-associated alleles B*35 and Cw*04, or to both.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Carrington, M -- Nelson, G W -- Martin, M P -- Kissner, T -- Vlahov, D -- Goedert, J J -- Kaslow, R -- Buchbinder, S -- Hoots, K -- O'Brien, S J -- N01-CO-56000/CO/NCI NIH HHS/ -- New York, N.Y. -- Science. 1999 Mar 12;283(5408):1748-52.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Intramural Research Support Program, Science Applications International Corporation Frederick, National Cancer Institute (NCI), Frederick, MD 21702-1201, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10073943" target="_blank"〉PubMed〈/a〉
    Keywords: Acquired Immunodeficiency Syndrome/genetics/*immunology ; Adult ; Alleles ; Antigen Presentation ; Cohort Studies ; Disease Progression ; Ethnic Groups ; *Genes, MHC Class I ; Genetic Predisposition to Disease ; HIV Infections/genetics/*immunology ; HIV Long-Term Survivors/statistics & numerical data ; *Hiv-1 ; HLA Antigens/genetics ; HLA-B Antigens/*genetics ; HLA-C Antigens/*genetics ; Heterozygote ; Homozygote ; Humans ; Killer Cells, Natural/immunology ; Loss of Heterozygosity ; Proportional Hazards Models ; Risk
    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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  • 3
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    Genetic acceleration of AIDS progression by a promoter variant of CCR5 (1998)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1998-12-04
    Description: The CCR5 gene encodes a cell surface chemokine receptor molecule that serves as the principal coreceptor, with CD4, for macrophage-tropic (R5) strains of human immunodeficiency virus-type 1 (HIV-1). Genetic association analysis of five cohorts of people with acquired immunodeficiency syndrome (AIDS) revealed that infected individuals homozygous for a multisite haplotype of the CCR5 regulatory region containing the promoter allele, CCR5P1, progress to AIDS more rapidly than those with other CCR5 promoter genotypes, particularly in the early years after infection. Composite genetic epidemiologic analyses of genotypes bearing CCR5P1, CCR5-Delta32, CCR2-64I, and SDF1-3'A affirmed distinct regulatory influences for each gene on AIDS progression. An estimated 10 to 17 percent of patients who develop AIDS within 3.5 years of HIV-1 infection do so because they are homozygous for CCR5P1/P1, and 7 to 13 percent of all people carry this susceptible genotype. The cumulative and interactive influence of these AIDS restriction genes illustrates the multigenic nature of host factors limiting AIDS disease progression.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Martin, M P -- Dean, M -- Smith, M W -- Winkler, C -- Gerrard, B -- Michael, N L -- Lee, B -- Doms, R W -- Margolick, J -- Buchbinder, S -- Goedert, J J -- O'Brien, T R -- Hilgartner, M W -- Vlahov, D -- O'Brien, S J -- Carrington, M -- N01-CO-56000/CO/NCI NIH HHS/ -- New York, N.Y. -- Science. 1998 Dec 4;282(5395):1907-11.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Science Applications International Corporation (SAIC), National Cancer Institute, Frederick MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9836644" target="_blank"〉PubMed〈/a〉
    Keywords: Acquired Immunodeficiency Syndrome/genetics/mortality/*physiopathology ; Alleles ; Chemokine CXCL12 ; Chemokines, CXC/genetics ; Cohort Studies ; Disease Progression ; Genes, Dominant ; Genes, Recessive ; Genetic Predisposition to Disease ; Genotype ; HIV Infections/genetics/physiopathology ; *Hiv-1 ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; *Promoter Regions, Genetic ; Proportional Hazards Models ; Receptors, CCR2 ; Receptors, CCR5/*genetics ; *Receptors, Chemokine ; Receptors, Cytokine/*genetics ; Risk Factors ; Survival Rate
    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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  • 4
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    Genetic variation in IL28B and spontaneous clearance of hepatitis C virus (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-09-18
    Description: Hepatitis C virus (HCV) infection is the most common blood-borne infection in the United States, with estimates of 4 million HCV-infected individuals in the United States and 170 million worldwide. Most (70-80%) HCV infections persist and about 30% of individuals with persistent infection develop chronic liver disease, including cirrhosis and hepatocellular carcinoma. Epidemiological, viral and host factors have been associated with the differences in HCV clearance or persistence, and studies have demonstrated that a strong host immune response against HCV favours viral clearance. Thus, variation in genes involved in the immune response may contribute to the ability to clear the virus. In a recent genome-wide association study, a single nucleotide polymorphism (rs12979860) 3 kilobases upstream of the IL28B gene, which encodes the type III interferon IFN-3, was shown to associate strongly with more than a twofold difference in response to HCV drug treatment. To determine the potential effect of rs12979860 variation on outcome to HCV infection in a natural history setting, we genotyped this variant in HCV cohorts comprised of individuals who spontaneously cleared the virus (n = 388) or had persistent infection (n = 620). We show that the C/C genotype strongly enhances resolution of HCV infection among individuals of both European and African ancestry. To our knowledge, this is the strongest and most significant genetic effect associated with natural clearance of HCV, and these results implicate a primary role for IL28B in resolution of HCV infection.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172006/" 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/PMC3172006/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Thomas, David L -- Thio, Chloe L -- Martin, Maureen P -- Qi, Ying -- Ge, Dongliang -- O'Huigin, Colm -- Kidd, Judith -- Kidd, Kenneth -- Khakoo, Salim I -- Alexander, Graeme -- Goedert, James J -- Kirk, Gregory D -- Donfield, Sharyne M -- Rosen, Hugo R -- Tobler, Leslie H -- Busch, Michael P -- McHutchison, John G -- Goldstein, David B -- Carrington, Mary -- HHSN261200800001E/CO/NCI NIH HHS/ -- HHSN261200800001E/PHS HHS/ -- R01 DA004334/DA/NIDA NIH HHS/ -- R01DA004334/DA/NIDA NIH HHS/ -- R01DA013324/DA/NIDA NIH HHS/ -- R01DK60590/DK/NIDDK NIH HHS/ -- R01HD41224/HD/NICHD NIH HHS/ -- R01HL076902/HL/NHLBI NIH HHS/ -- R56 DA004334/DA/NIDA NIH HHS/ -- Intramural NIH HHS/ -- England -- Nature. 2009 Oct 8;461(7265):798-801. doi: 10.1038/nature08463.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Johns Hopkins University, Division of Infectious Diseases, Baltimore, Maryland 21205, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19759533" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Africa/ethnology ; Europe/ethnology ; Female ; Gene Frequency ; Genetic Variation/*genetics ; Genome-Wide Association Study ; Genotype ; Hepacivirus/drug effects/*immunology/physiology ; Hepatitis C/drug therapy/*genetics/*immunology/virology ; Humans ; Interleukins/*genetics/*immunology ; Male ; Polymorphism, Single Nucleotide/genetics
    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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  • 5
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    HLA and NK cell inhibitory receptor genes in resolving hepatitis C virus infection (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-08-07
    Description: Natural killer (NK) cells provide a central defense against viral infection by using inhibitory and activation receptors for major histocompatibility complex class I molecules as a means of controlling their activity. We show that genes encoding the inhibitory NK cell receptor KIR2DL3 and its human leukocyte antigen C group 1 (HLA-C1) ligand directly influence resolution of hepatitis C virus (HCV) infection. This effect was observed in Caucasians and African Americans with expected low infectious doses of HCV but not in those with high-dose exposure, in whom the innate immune response is likely overwhelmed. The data strongly suggest that inhibitory NK cell interactions are important in determining antiviral immunity and that diminished inhibitory responses confer protection against HCV.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Khakoo, Salim I -- Thio, Chloe L -- Martin, Maureen P -- Brooks, Collin R -- Gao, Xiaojiang -- Astemborski, Jacquie -- Cheng, Jie -- Goedert, James J -- Vlahov, David -- Hilgartner, Margaret -- Cox, Steven -- Little, Ann-Margeret -- Alexander, Graeme J -- Cramp, Matthew E -- O'Brien, Stephen J -- Rosenberg, William M C -- Thomas, David L -- Carrington, Mary -- DA00441/DA/NIDA NIH HHS/ -- DA04334/DA/NIDA NIH HHS/ -- DA13324/DA/NIDA NIH HHS/ -- N01-CO-12400/CO/NCI NIH HHS/ -- N01-CP-01004/CP/NCI NIH HHS/ -- N01-CP-33002/CP/NCI NIH HHS/ -- N01-HD-4-3200/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2004 Aug 6;305(5685):872-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Liver Group, Division of Infection, Inflammation, and Repair, Southampton University, Southampton 5016 6YD, UK. sik@soton.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15297676" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; African Americans/genetics ; Alleles ; Blood Transfusion ; Child ; Cohort Studies ; European Continental Ancestry Group/genetics ; Female ; HLA-C Antigens/*genetics/immunology/metabolism ; Hepacivirus/immunology/physiology ; Hepatitis C/genetics/*immunology/transmission/virology ; Homozygote ; Humans ; Killer Cells, Natural/*immunology ; Ligands ; Male ; Receptors, Immunologic/*genetics/metabolism ; Receptors, KIR ; Receptors, KIR2DL1 ; Receptors, KIR2DL3 ; Regression Analysis
    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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  • 6
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    Differential microRNA regulation of HLA-C expression and its association with HIV control (2011)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2011-04-19
    Description: The HLA-C locus is distinct relative to the other classical HLA class I loci in that it has relatively limited polymorphism, lower expression on the cell surface, and more extensive ligand-receptor interactions with killer-cell immunoglobulin-like receptors. A single nucleotide polymorphism (SNP) 35 kb upstream of HLA-C (rs9264942; termed -35) associates with control of HIV, and with levels of HLA-C messenger RNA transcripts and cell-surface expression, but the mechanism underlying its varied expression is unknown. We proposed that the -35 SNP is not the causal variant for differential HLA-C expression, but rather is marking another polymorphism that directly affects levels of HLA-C. Here we show that variation within the 3' untranslated region (UTR) of HLA-C regulates binding of the microRNA hsa-miR-148 to its target site, resulting in relatively low surface expression of alleles that bind this microRNA and high expression of HLA-C alleles that escape post-transcriptional regulation. The 3' UTR variant associates strongly with control of HIV, potentially adding to the effects of genetic variation encoding the peptide-binding region of the HLA class I loci. Variation in HLA-C expression adds another layer of diversity to this highly polymorphic locus that must be considered when deciphering the function of these molecules in health and disease.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084326/" 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/PMC3084326/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kulkarni, Smita -- Savan, Ram -- Qi, Ying -- Gao, Xiaojiang -- Yuki, Yuko -- Bass, Sara E -- Martin, Maureen P -- Hunt, Peter -- Deeks, Steven G -- Telenti, Amalio -- Pereyra, Florencia -- Goldstein, David -- Wolinsky, Steven -- Walker, Bruce -- Young, Howard A -- Carrington, Mary -- 5-M01-RR-00722/RR/NCRR NIH HHS/ -- HHSN261200800001E/CO/NCI NIH HHS/ -- HHSN261200800001E/PHS HHS/ -- N02-CP-55504/CP/NCI NIH HHS/ -- P30 AI060354/AI/NIAID NIH HHS/ -- R01-DA04334/DA/NIDA NIH HHS/ -- R01-DA12568/DA/NIDA NIH HHS/ -- U01-AI-35039/AI/NIAID NIH HHS/ -- U01-AI-35040/AI/NIAID NIH HHS/ -- U01-AI-35041/AI/NIAID NIH HHS/ -- U01-AI-35042/AI/NIAID NIH HHS/ -- U01-AI-35043/AI/NIAID NIH HHS/ -- U01-AI-37613/AI/NIAID NIH HHS/ -- U01-AI-37984/AI/NIAID NIH HHS/ -- UL1 RR024131/RR/NCRR NIH HHS/ -- Intramural NIH HHS/ -- England -- Nature. 2011 Apr 28;472(7344):495-8. doi: 10.1038/nature09914. Epub 2011 Apr 17.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cancer and Inflammation Program, Laboratory of Experimental Immunology, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21499264" target="_blank"〉PubMed〈/a〉
    Keywords: 3' Untranslated Regions/genetics ; Alleles ; Base Sequence ; Cell Line ; *Gene Expression Regulation/genetics/immunology ; Genes, Reporter/genetics ; HIV/*immunology ; HIV Infections/*genetics/*immunology/therapy ; HLA-C Antigens/*genetics ; Humans ; MicroRNAs/*genetics ; Polymorphism, Single Nucleotide/genetics ; Viral Load
    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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  • 7
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    Molecular preservation in halite and perchlorate rich hypersaline subsurface deposits in the Salar Grande basin (Atacama Desert, Chile): implications for the search for molecular biomarkers on Mars. (2013)
    Wiley
    Details
    Publication Date: 2013-04-09
    Description: [1]  Similarities between the Atacama Desert (Chile) and Mars include extreme aridity, highly oxidizing chemistry, and intense ultraviolet radiation that promoted the photochemical production of perchlorates and nitrates. Concentration of these ions under hyperarid conditions led to the formation of nitrate- and perchlorate-bearing deposits in ephemeral lakes, followed by later deposition of chlorides and sulfates. At some locations, such as the Salar Grande, hypersaline deposits have remained unaltered for millions of years. We conducted a drilling campaign in deposits of the Salar to characterize the preservation state of biological molecules. A 5-meter deep discontinuous core was recovered, and subjected to multi-technique analysis including the antibody microarray-based biosensor LDChip300 and the SOLID (Signs Of Life Detector) instrument, complimented by geophysical, mineralogical, geochemical, and molecular analysis. We identified two units based on the mineralogy: the upper one, from the surface to ~320 cm depth characterized by a predominance of halite and anhydrite; and the lower one, from 320 to 520 cm, with a drop in halite and anhydrite and an enrichment in nitrate and perchlorate. Organic compounds including biomolecules were detected in association with the different depositional and mineralogical units, demonstrating the high capacity for molecular preservation. Hypersaline environments preserve biomolecules over geologically significant timescales; therefore, salt-bearing materials should be high-priority targets for the search for evidence of life on Mars.
    Print ISSN: 0148-0227
    Topics: Biology , Geosciences
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 8
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    Bacteria in rivers linked to land and geochemistry [Environmental Sciences] (2015)
    National Academy of Sciences
    Details
    Publication Date: 2015-08-19
    Description: Linking fecal indicator bacteria concentrations in large mixed-use watersheds back to diffuse human sources, such as septic systems, has met limited success. In this study, 64 rivers that drain 84% of Michigan’s Lower Peninsula were sampled under baseflow conditions for Escherichia coli, Bacteroides thetaiotaomicron (a human source-tracking marker), landscape characteristics,...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 9
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    Author Correction: Unprecedented rains decimate surface microbial communities in the hyperarid core of the Atacama Desert (2019)
    Springer Nature
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    Publication Date: 2019
    Electronic ISSN: 2045-2322
    Topics: Natural Sciences in General
    Published by Springer Nature
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  • 10
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    Actions of 17β-estradiol on carbohydrate metabolism in liver, gills, and brain of gilthead sea bream Sparus auratus during acclimation to different salinities (2004)
    Springer
    Details
    Publication Date: 2004-10-14
    Print ISSN: 0025-3162
    Electronic ISSN: 1432-1793
    Topics: Biology
    Published by Springer
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