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  • 1
    Publication Date: 2015-11-15
    Description: Knowledge concerning mechanisms that control proliferation and differentiation of preadipocytes is essential to our understanding of adipocyte hyperplasia and the development of obesity. Evidence has shown that temporal regulation of mitogen-activated protein kinase (MAPK) phosphorylation and dephosphorylation is critical for coupling extracellular stimuli to cellular growth and differentiation. Using differentiating 3T3-L1 preadipocytes as a model of adipocyte hyperplasia, we examined a role for dual-specificity phosphatase 1 (DUSP1) on the timely modulation of MAPK signaling during states of growth arrest, proliferation, and differentiation. Using real-time reverse transcription PCR (qRT-PCR), we report that DUSP1 is induced during early preadipocyte proliferation concomitant with ERK and p38 dephosphorylation. As deactivation of ERK and p38 is essential for the progression of adipocyte differentiation, we further showed that de novo mRNA synthesis was required for ERK and p38 dephosphorylation, suggesting a role for ‘inducible’ phosphatases in regulating MAPK signaling. Pharmacological and genetic inhibition of DUSP1 markedly increased ERK and p38 phosphorylation during early adipocyte differentiation. Based on these findings, we postulated that loss of DUSP1 would block adipocyte hyperplasia. However, genetic loss of DUSP1 was not sufficient to prevent preadipocyte proliferation or differentiation, suggesting a role for other phosphatases in the regulation of adipogenesis. In support of this, qRT-PCR identified several MAPK-specific DUSPs induced during early (DUSP2, -4, -5, & -6), mid (DUSP4 & -16) and late (DUSP9) stages of adipocyte differentiation. Collectively, these data suggest an important role for DUSPs in regulating MAPK dephosphorylation, with an emphasis on DUSP1, during early adipogenesis. This article is protected by copyright. All rights reserved
    Electronic ISSN: 1097-4652
    Topics: Biology , Medicine
    Published by Wiley
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  • 2
    Publication Date: 2003-03-08
    Description: Helicobacter pylori, a chronic gastric pathogen of human beings, can be divided into seven populations and subpopulations with distinct geographical distributions. These modern populations derive their gene pools from ancestral populations that arose in Africa, Central Asia, and East Asia. Subsequent spread can be attributed to human migratory fluxes such as the prehistoric colonization of Polynesia and the Americas, the neolithic introduction of farming to Europe, the Bantu expansion within Africa, and the slave trade.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Falush, Daniel -- Wirth, Thierry -- Linz, Bodo -- Pritchard, Jonathan K -- Stephens, Matthew -- Kidd, Mark -- Blaser, Martin J -- Graham, David Y -- Vacher, Sylvie -- Perez-Perez, Guillermo I -- Yamaoka, Yoshio -- Megraud, Francis -- Otto, Kristina -- Reichard, Ulrike -- Katzowitsch, Elena -- Wang, Xiaoyan -- Achtman, Mark -- Suerbaum, Sebastian -- R02GM63270/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2003 Mar 7;299(5612):1582-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Max-Planck Institut fur Infektionsbiologie, 10117 Berlin, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12624269" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Agriculture ; Americas ; Asia ; Bacterial Proteins/genetics ; Bayes Theorem ; Continental Population Groups ; *Emigration and Immigration ; Ethnic Groups ; Europe ; Genes, Bacterial ; Genetic Variation ; *Genetics, Population ; Geography ; Helicobacter Infections/*microbiology/transmission ; Helicobacter pylori/classification/*genetics/isolation & purification ; Humans ; Indians, North American ; Language ; *Polymorphism, Genetic ; Polynesia ; Recombination, Genetic ; Social Problems ; Software
    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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  • 3
    Publication Date: 2001-10-06
    Description: We examine how a ferromagnetic layer affects the coherent electron spin dynamics in a neighboring gallium arsenide semiconductor. Ultrafast optical pump-probe measurements reveal that the spin dynamics are unexpectedly dominated by hyperpolarized nuclear spins that align along the ferromagnet's magnetization. We find evidence that photoexcited carriers acquire spin-polarization from the ferromagnet, and dynamically polarize these nuclear spins. The resulting hyperfine fields are as high as 9000 gauss in small external fields (less than 1000 gauss), enabling ferromagnetic control of local electron spin coherence.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kawakami, R K -- Kato, Y -- Hanson, M -- Malajovich, I -- Stephens, J M -- Johnston-Halperin, E -- Salis, G -- Gossard, A C -- Awschalom, D D -- New York, N.Y. -- Science. 2001 Oct 5;294(5540):131-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Physics and, Materials Department, University of California, Santa Barbara, CA 93106, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11588255" target="_blank"〉PubMed〈/a〉
    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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  • 4
    Publication Date: 2012-06-09
    Description: Phytoplankton blooms over Arctic Ocean continental shelves are thought to be restricted to waters free of sea ice. Here, we document a massive phytoplankton bloom beneath fully consolidated pack ice far from the ice edge in the Chukchi Sea, where light transmission has increased in recent decades because of thinning ice cover and proliferation of melt ponds. The bloom was characterized by high diatom biomass and rates of growth and primary production. Evidence suggests that under-ice phytoplankton blooms may be more widespread over nutrient-rich Arctic continental shelves and that satellite-based estimates of annual primary production in these waters may be underestimated by up to 10-fold.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Arrigo, Kevin R -- Perovich, Donald K -- Pickart, Robert S -- Brown, Zachary W -- van Dijken, Gert L -- Lowry, Kate E -- Mills, Matthew M -- Palmer, Molly A -- Balch, William M -- Bahr, Frank -- Bates, Nicholas R -- Benitez-Nelson, Claudia -- Bowler, Bruce -- Brownlee, Emily -- Ehn, Jens K -- Frey, Karen E -- Garley, Rebecca -- Laney, Samuel R -- Lubelczyk, Laura -- Mathis, Jeremy -- Matsuoka, Atsushi -- Mitchell, B Greg -- Moore, G W K -- Ortega-Retuerta, Eva -- Pal, Sharmila -- Polashenski, Chris M -- Reynolds, Rick A -- Schieber, Brian -- Sosik, Heidi M -- Stephens, Michael -- Swift, James H -- New York, N.Y. -- Science. 2012 Jun 15;336(6087):1408. doi: 10.1126/science.1215065. Epub 2012 Jun 7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Environmental Earth System Science, Stanford University, Stanford, CA 94305, USA. arrigo@stanford.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22678359" target="_blank"〉PubMed〈/a〉
    Keywords: Arctic Regions ; Biomass ; Diatoms/growth & development ; *Eutrophication ; *Ice Cover ; Light ; Nitrates/analysis ; Oceans and Seas ; Photosynthesis ; Photosystem II Protein Complex/analysis ; Phytoplankton/*growth & development ; Seawater/chemistry
    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
    Publication Date: 2015-07-25
    Description: Mutations in the LRBA gene (encoding the lipopolysaccharide-responsive and beige-like anchor protein) cause a syndrome of autoimmunity, lymphoproliferation, and humoral immune deficiency. The biological role of LRBA in immunologic disease is unknown. We found that patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4)-immunoglobulin fusion drug. Clinical responses and homology of LRBA to proteins controlling intracellular trafficking led us to hypothesize that it regulates CTLA4, a potent inhibitory immune receptor. We found that LRBA colocalized with CTLA4 in endosomal vesicles and that LRBA deficiency or knockdown increased CTLA4 turnover, which resulted in reduced levels of CTLA4 protein in FoxP3(+) regulatory and activated conventional T cells. In LRBA-deficient cells, inhibition of lysosome degradation with chloroquine prevented CTLA4 loss. These findings elucidate a mechanism for CTLA4 trafficking and control of immune responses and suggest therapies for diseases involving the CTLA4 pathway.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lo, Bernice -- Zhang, Kejian -- Lu, Wei -- Zheng, Lixin -- Zhang, Qian -- Kanellopoulou, Chrysi -- Zhang, Yu -- Liu, Zhiduo -- Fritz, Jill M -- Marsh, Rebecca -- Husami, Ammar -- Kissell, Diane -- Nortman, Shannon -- Chaturvedi, Vijaya -- Haines, Hilary -- Young, Lisa R -- Mo, Jun -- Filipovich, Alexandra H -- Bleesing, Jack J -- Mustillo, Peter -- Stephens, Michael -- Rueda, Cesar M -- Chougnet, Claire A -- Hoebe, Kasper -- McElwee, Joshua -- Hughes, Jason D -- Karakoc-Aydiner, Elif -- Matthews, Helen F -- Price, Susan -- Su, Helen C -- Rao, V Koneti -- Lenardo, Michael J -- Jordan, Michael B -- 1RC2 HG005608/HG/NHGRI NIH HHS/ -- 1ZIAAI000769-14/PHS HHS/ -- Intramural NIH HHS/ -- New York, N.Y. -- Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Molecular Development of the Immune System Section and Clinical and Molecular Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. michael.jordan@cchmc.org. ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. michael.jordan@cchmc.org. ; Molecular Development of the Immune System Section and Clinical and Molecular Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. ; NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. ; Lymphocyte Biology Section, Laboratory of Systems Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. ; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. ; Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama at Birmingham, AL, USA. ; Division of Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, and Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA. ; Departments of Pathology and Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA, USA. ; Section of Allergy and Immunology, Nationwide Children's Hospital, Columbus, OH, USA. ; Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA. ; Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA. ; Merck Research Laboratories, Merck & Co, Boston, MA, USA. ; Molecular Development of the Immune System Section and Clinical and Molecular Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Lymphocyte Biology Section, Laboratory of Systems Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama at Birmingham, AL, USA. Division of Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, and Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA. Departments of Pathology and Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA, USA. Section of Allergy and Immunology, Nationwide Children's Hospital, Columbus, OH, USA. Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA. Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA. Merck Research Laboratories, Merck & Co, Boston, MA, USA. Marmara University, Division of Pediatric Allergy and Immunology, Istanbul, Turkey. ; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA. michael.jordan@cchmc.org.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26206937" target="_blank"〉PubMed〈/a〉
    Keywords: Abatacept ; Adaptor Proteins, Signal Transducing/genetics/*metabolism ; Adolescent ; Autoimmune Diseases/*drug therapy/metabolism ; CTLA-4 Antigen/*deficiency/genetics ; Child ; Chloroquine/pharmacology ; Common Variable Immunodeficiency/*drug therapy/metabolism ; Endosomes/metabolism ; Female ; Forkhead Transcription Factors/analysis ; Gene Knockdown Techniques ; HEK293 Cells ; Humans ; Immunoconjugates/*therapeutic use ; Lung Diseases, Interstitial/drug therapy/metabolism ; Lymphocyte Activation ; Lysosomes/metabolism ; Male ; Proteolysis ; T-Lymphocytes/drug effects/immunology ; Young Adult
    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
    Publication Date: 2014-02-15
    Description: Author(s): Ashley M. Stephens The surface code is a promising candidate for fault-tolerant quantum computation, achieving a high threshold error rate with nearest-neighbor gates in two spatial dimensions. Here, through a series of numerical simulations, we investigate how the precise value of the threshold depends on the noise m... [Phys. Rev. A 89, 022321] Published Fri Feb 14, 2014
    Keywords: Quantum information
    Print ISSN: 1050-2947
    Electronic ISSN: 1094-1622
    Topics: Physics
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  • 7
    Publication Date: 2019
    Description: Abstract Nitrification, the microbial conversion of ammonium to nitrite then to nitrate, occurs throughout the oceanic water column, yet the environmental factors influencing the production of nitrate in the euphotic zone (EZ) remain unclear. In this study, the natural abundances of N and O isotopes (δ15N and δ18O, respectively) in nitrate were used in an existing model framework to quantify nitrate contributed by EZ nitrification in the California Current Ecosystem (CCE) during two anomalously warm years. Model data estimated that between 6% and 36% of the EZ nitrate reservoirs were derived from the combined steps of nitrification within the EZ. The CCE data set found nitrification contributions to EZ nitrate to be positively correlated with nitrite concentrations () at the depth of the primary nitrite maximum (PNM). Building on this correlation, EZ nitrification in the southern California Current was estimated to contribute on average 20% ± 6% to EZ nitrate as inferred using the PNM of the long‐term California Cooperative Oceanic Fisheries Investigation (CalCOFI) survey record. A multiple linear regression analysis of the CalCOFI PNM time series identified two conditions that led to positive deviations in . Enhanced PNM , and potentially enhanced EZ nitrification, may be linked to (1) reduced phytoplankton competition for ammonium () and as interpreted from particulate organic carbon:chlorophyll ratios, and/or (2) to increased supply of (and then oxidation to ) from the degradation of organic nitrogen as interpreted from particulate organic nitrogen concentrations.
    Print ISSN: 0024-3590
    Electronic ISSN: 1939-5590
    Topics: Biology , Geosciences , Physics
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  • 8
    Publication Date: 2012-02-07
    Description: The mapping of expression quantitative trait loci (eQTLs) has emerged as an important tool for linking genetic variation to changes in gene regulation. However, it remains difficult to identify the causal variants underlying eQTLs, and little is known about the regulatory mechanisms by which they act. Here we show that genetic variants that modify chromatin accessibility and transcription factor binding are a major mechanism through which genetic variation leads to gene expression differences among humans. We used DNase I sequencing to measure chromatin accessibility in 70 Yoruba lymphoblastoid cell lines, for which genome-wide genotypes and estimates of gene expression levels are also available. We obtained a total of 2.7 billion uniquely mapped DNase I-sequencing (DNase-seq) reads, which allowed us to produce genome-wide maps of chromatin accessibility for each individual. We identified 8,902 locations at which the DNase-seq read depth correlated significantly with genotype at a nearby single nucleotide polymorphism or insertion/deletion (false discovery rate = 10%). We call such variants 'DNase I sensitivity quantitative trait loci' (dsQTLs). We found that dsQTLs are strongly enriched within inferred transcription factor binding sites and are frequently associated with allele-specific changes in transcription factor binding. A substantial fraction (16%) of dsQTLs are also associated with variation in the expression levels of nearby genes (that is, these loci are also classified as eQTLs). Conversely, we estimate that as many as 55% of eQTL single nucleotide polymorphisms are also dsQTLs. Our observations indicate that dsQTLs are highly abundant in the human genome and are likely to be important contributors to phenotypic variation.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501342/" 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/PMC3501342/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Degner, Jacob F -- Pai, Athma A -- Pique-Regi, Roger -- Veyrieras, Jean-Baptiste -- Gaffney, Daniel J -- Pickrell, Joseph K -- De Leon, Sherryl -- Michelini, Katelyn -- Lewellen, Noah -- Crawford, Gregory E -- Stephens, Matthew -- Gilad, Yoav -- Pritchard, Jonathan K -- HG006123/HG/NHGRI NIH HHS/ -- MH084703/MH/NIMH NIH HHS/ -- MH090951/MH/NIMH NIH HHS/ -- R01 HG006123/HG/NHGRI NIH HHS/ -- R01 HG006123-01/HG/NHGRI NIH HHS/ -- R01 HG006123-02/HG/NHGRI NIH HHS/ -- R01 MH090951/MH/NIMH NIH HHS/ -- R01 MH090951-01/MH/NIMH NIH HHS/ -- R01 MH090951-02/MH/NIMH NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2012 Feb 5;482(7385):390-4. doi: 10.1038/nature10808.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22307276" target="_blank"〉PubMed〈/a〉
    Keywords: Chromatin/genetics/metabolism ; *DNA Footprinting ; Deoxyribonuclease I/*metabolism ; Gene Expression Profiling ; Gene Expression Regulation/*genetics ; Genetic Variation/*genetics ; Genome, Human/genetics ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/*genetics ; Sequence Analysis, DNA ; Transcription Factors/metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 9
    Publication Date: 2013-09-03
    Description: Statins are prescribed widely to lower plasma low-density lipoprotein (LDL) concentrations and cardiovascular disease risk and have been shown to have beneficial effects in a broad range of patients. However, statins are associated with an increased risk, albeit small, of clinical myopathy and type 2 diabetes. Despite evidence for substantial genetic influence on LDL concentrations, pharmacogenomic trials have failed to identify genetic variations with large effects on either statin efficacy or toxicity, and have produced little information regarding mechanisms that modulate statin response. Here we identify a downstream target of statin treatment by screening for the effects of in vitro statin exposure on genetic associations with gene expression levels in lymphoblastoid cell lines derived from 480 participants of a clinical trial of simvastatin treatment. This analysis identified six expression quantitative trait loci (eQTLs) that interacted with simvastatin exposure, including rs9806699, a cis-eQTL for the gene glycine amidinotransferase (GATM) that encodes the rate-limiting enzyme in creatine synthesis. We found this locus to be associated with incidence of statin-induced myotoxicity in two separate populations (meta-analysis odds ratio = 0.60). Furthermore, we found that GATM knockdown in hepatocyte-derived cell lines attenuated transcriptional response to sterol depletion, demonstrating that GATM may act as a functional link between statin-mediated lowering of cholesterol and susceptibility to statin-induced myopathy.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933266/" 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/PMC3933266/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mangravite, Lara M -- Engelhardt, Barbara E -- Medina, Marisa W -- Smith, Joshua D -- Brown, Christopher D -- Chasman, Daniel I -- Mecham, Brigham H -- Howie, Bryan -- Shim, Heejung -- Naidoo, Devesh -- Feng, QiPing -- Rieder, Mark J -- Chen, Yii-Der I -- Rotter, Jerome I -- Ridker, Paul M -- Hopewell, Jemma C -- Parish, Sarah -- Armitage, Jane -- Collins, Rory -- Wilke, Russell A -- Nickerson, Deborah A -- Stephens, Matthew -- Krauss, Ronald M -- HG002585/HG/NHGRI NIH HHS/ -- K99/R00HG006265/HG/NHGRI NIH HHS/ -- MC_U137686853/Medical Research Council/United Kingdom -- P30 DK063491/DK/NIDDK NIH HHS/ -- R00 HG006265/HG/NHGRI NIH HHS/ -- R01 HG002585/HG/NHGRI NIH HHS/ -- R01 HL104133/HL/NHLBI NIH HHS/ -- U01 HL069757/HL/NHLBI NIH HHS/ -- U01 HL69757/HL/NHLBI NIH HHS/ -- UL1 TR000124/TR/NCATS NIH HHS/ -- British Heart Foundation/United Kingdom -- Medical Research Council/United Kingdom -- England -- Nature. 2013 Oct 17;502(7471):377-80. doi: 10.1038/nature12508. Epub 2013 Aug 28.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Sage Bionetworks, 1100 Fairview Avenue North, Seattle, Washington 98109, USA. lara.mangravite@sagebase.org〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23995691" target="_blank"〉PubMed〈/a〉
    Keywords: Amidinotransferases/deficiency/*genetics/metabolism ; Cell Line ; Cholesterol/deficiency/metabolism/pharmacology ; Gene Expression Regulation/*drug effects ; Gene Knockdown Techniques ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/*adverse effects/pharmacology ; Lymphocytes/cytology/drug effects/metabolism ; Muscular Diseases/*chemically induced/genetics/metabolism ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/*genetics ; Simvastatin/*adverse effects/pharmacology ; Sterol Regulatory Element Binding Proteins/metabolism ; Transcription, Genetic/drug effects
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    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 10
    Publication Date: 2010-03-12
    Description: Understanding the genetic mechanisms underlying natural variation in gene expression is a central goal of both medical and evolutionary genetics, and studies of expression quantitative trait loci (eQTLs) have become an important tool for achieving this goal. Although all eQTL studies so far have assayed messenger RNA levels using expression microarrays, recent advances in RNA sequencing enable the analysis of transcript variation at unprecedented resolution. We sequenced RNA from 69 lymphoblastoid cell lines derived from unrelated Nigerian individuals that have been extensively genotyped by the International HapMap Project. By pooling data from all individuals, we generated a map of the transcriptional landscape of these cells, identifying extensive use of unannotated untranslated regions and more than 100 new putative protein-coding exons. Using the genotypes from the HapMap project, we identified more than a thousand genes at which genetic variation influences overall expression levels or splicing. We demonstrate that eQTLs near genes generally act by a mechanism involving allele-specific expression, and that variation that influences the inclusion of an exon is enriched within and near the consensus splice sites. Our results illustrate the power of high-throughput sequencing for the joint analysis of variation in transcription, splicing and allele-specific expression across individuals.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089435/" 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/PMC3089435/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pickrell, Joseph K -- Marioni, John C -- Pai, Athma A -- Degner, Jacob F -- Engelhardt, Barbara E -- Nkadori, Everlyne -- Veyrieras, Jean-Baptiste -- Stephens, Matthew -- Gilad, Yoav -- Pritchard, Jonathan K -- GM077959/GM/NIGMS NIH HHS/ -- MH084703-01/MH/NIMH NIH HHS/ -- R01 GM077959/GM/NIGMS NIH HHS/ -- R01 GM077959-05/GM/NIGMS NIH HHS/ -- R01 MH084703/MH/NIMH NIH HHS/ -- R01 MH084703-02/MH/NIMH NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2010 Apr 1;464(7289):768-72. doi: 10.1038/nature08872. Epub 2010 Mar 10.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Human Genetics, The University of Chicago, Chicago 60637, USA. pickrell@uchicago.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20220758" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/genetics ; Alleles ; Consensus Sequence/genetics ; DNA, Complementary/genetics ; Exons/genetics ; *Gene Expression Profiling ; Gene Expression Regulation/*genetics ; Genetic Variation/*genetics ; Humans ; Nigeria ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; RNA Splice Sites/genetics ; RNA, Messenger/*analysis/*genetics ; Sequence Analysis, RNA ; Transcription, Genetic/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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