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  • 1
    Publication Date: 2014-11-26
    Description: Article Autism spectrum disorder (ASD) is a common disorder with a strong and complex genetic component. Here, the authors resequence 64 candidate neurodevelopmental disorder risk genes in almost 6,000 samples and identify novel genes associated with ASD. Nature Communications doi: 10.1038/ncomms6595 Authors: B. J. O'Roak, H. A. Stessman, E. A. Boyle, K. T. Witherspoon, B. Martin, C. Lee, L. Vives, C. Baker, J. B. Hiatt, D. A. Nickerson, R. Bernier, J. Shendure, E. E. Eichler
    Electronic ISSN: 2041-1723
    Topics: Biology , Chemistry and Pharmacology , Natural Sciences in General , Physics
    Published by Springer Nature
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  • 2
    Publication Date: 1998-05-13
    Description: Coupled radiocarbon and thorium-230 dates from benthic coral species reveal that the ventilation rate of the North Atlantic upper deep water varied greatly during the last deglaciation. Radiocarbon ages in several corals of the same age, 15.41 +/- 0.17 thousand years, and nearly the same depth, 1800 meters, in the western North Atlantic Ocean increased by as much as 670 years during the 30- to 160-year life spans of the samples. Cadmium/calcium ratios in one coral imply that the nutrient content of these deep waters also increased. Our data show that the deep ocean changed on decadal-centennial time scales during rapid changes in the surface ocean and the atmosphere.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Adkins -- Cheng -- Boyle -- Druffel -- Edwards -- New York, N.Y. -- Science. 1998 May 1;280(5364):725-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉J. F. Adkins and E. A. Boyle, Department of Earth, Atmosphere and Planetary Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. H. Cheng and R. L. Edwards, Department of Geology and Geophysics, University of Minnesota, Minne.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9563946" 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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  • 3
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    American Association for the Advancement of Science (AAAS)
    Publication Date: 2000-08-05
    Description: Surface waters of the subtropical Sargasso Sea contain dissolved inorganic phosphate (DIP) concentrations of 0.2 to 1.0 nanomolar, which are sufficiently low to result in phosphorus control of primary production. The DIP concentrations in this area (which receives high inputs of iron-rich dust from arid regions of North Africa) are one to two orders of magnitude lower than surface levels in the North Pacific (where eolian iron inputs are much lower and water column denitrification is much more substantial). These data indicate a severe relative phosphorus depletion in the Atlantic. We hypothesize that nitrogen versus phosphorus limitation of primary production in the present-day ocean may be closely linked to iron supply through control of dinitrogen (N2) fixation, an iron-intensive metabolic process. Although the oceanic phosphorus inventory may set the upper limit for the total amount of organic matter produced in the ocean over geological time scales, at any instant in geological time, oceanic primary production may fall below this limit because of a persistent insufficient iron supply. By controlling N2 fixation, iron may control not only nitrogen versus phosphorus limitation but also carbon fixation and export stoichiometry and hence biological sequestration of atmospheric carbon dioxide.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wu, J -- Sunda, W -- Boyle, E A -- Karl, D M -- New York, N.Y. -- Science. 2000 Aug 4;289(5480):759-62.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Earth, Atmospheric, and Planetary Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10926534" target="_blank"〉PubMed〈/a〉
    Keywords: Atlantic Ocean ; Cyanobacteria/*metabolism ; Iron/analysis/metabolism ; Nitrates/analysis/metabolism ; Nitrites/analysis/metabolism ; *Nitrogen Fixation ; Pacific Ocean ; Phosphates/*metabolism ; Seawater/*chemistry/microbiology
    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
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    American Association for the Advancement of Science (AAAS)
    Publication Date: 1990-08-24
    Description: During the past decade, geochemical paleoceanographers have begun to explore the changes in the circulation of the deep ocean that occurred during the glacial-interglacial cycles of the earth's recent history. The deep ocean was significantly colder during the glacial maximum. The distributions of biologically utilized elements (such as carbon and phosphorus) were significantly different as well; higher concentrations of these elements occurred in the deep (〉2500 meters depth) North Atlantic, and lower concentrations occurred in the upper (〈2500 meters depth) waters of the North Atlantic and possibly in all of the major ocean basins. In contrast, relatively subtle changes have been observed in the radiocarbon ages of deep waters. Slow deepwater changes are statistically linked to variations in the earth's orbit, but rapid changes in deepwater circulation also have occurred. Deepwater chemistry and circulation changes may control the variability in atmospheric CO(2) levels that have been documented from studies of air bubbles in polar ice cores.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Boyle, E A -- New York, N.Y. -- Science. 1990 Aug 24;249(4971):863-70.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17773102" 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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  • 5
    Publication Date: 2007-09-22
    Description: Proxies from Greenland ice cores and North Atlantic marine sediment cores document repeated extreme climate swings of a few decades to millennia during the last glacial cycle, including periods of intense ice rafting called Heinrich events (HEs). We have found similar oxygen isotope variations recorded in mixed-layer-and thermocline-dwelling planktonic foraminifera during HEs 0, 1, and 4, suggesting that three foraminiferal taxa calcified their shells at similar temperatures in a homogenized upperwater column. This implies that the surface mixed layer was deeper during HEs. Similar deepening occurred on the northern margin of the ice-rafted-debris belt, implying that these deep mixed layers during HEs were widespread in the region. We suggest that an increase in storminess during HEs intensified the vertical mixing of meltwater from ice rafting in the upper ocean.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rashid, Harunur -- Boyle, Edward A -- New York, N.Y. -- Science. 2007 Oct 19;318(5849):439-41. Epub 2007 Sep 20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉College of Marine Science, University of South Florida, 140 7th Avenue South, St. Petersburg, FL 33701, USA. hrashid@marine.usf.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17885097" 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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  • 6
    Publication Date: 2014-08-21
    Description: Saturation mutagenesis--coupled to an appropriate biological assay--represents a fundamental means of achieving a high-resolution understanding of regulatory and protein-coding nucleic acid sequences of interest. However, mutagenized sequences introduced in trans on episomes or via random or "safe-harbour" integration fail to capture the native context of the endogenous chromosomal locus. This shortcoming markedly limits the interpretability of the resulting measurements of mutational impact. Here, we couple CRISPR/Cas9 RNA-guided cleavage with multiplex homology-directed repair using a complex library of donor templates to demonstrate saturation editing of genomic regions. In exon 18 of BRCA1, we replace a six-base-pair (bp) genomic region with all possible hexamers, or the full exon with all possible single nucleotide variants (SNVs), and measure strong effects on transcript abundance attributable to nonsense-mediated decay and exonic splicing elements. We similarly perform saturation genome editing of a well-conserved coding region of an essential gene, DBR1, and measure relative effects on growth that correlate with functional impact. Measurement of the functional consequences of large numbers of mutations with saturation genome editing will potentially facilitate high-resolution functional dissection of both cis-regulatory elements and trans-acting factors, as well as the interpretation of variants of uncertain significance observed in clinical sequencing.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156553/" 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/PMC4156553/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Findlay, Gregory M -- Boyle, Evan A -- Hause, Ronald J -- Klein, Jason C -- Shendure, Jay -- DP1 HG007811/HG/NHGRI NIH HHS/ -- DP1HG007811/DP/NCCDPHP CDC HHS/ -- T32 GM007266/GM/NIGMS NIH HHS/ -- England -- Nature. 2014 Sep 4;513(7516):120-3. doi: 10.1038/nature13695.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA [2]. ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25141179" target="_blank"〉PubMed〈/a〉
    Keywords: CRISPR-Associated Proteins/metabolism ; CRISPR-Cas Systems/genetics ; Cell Line ; Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; Conserved Sequence/genetics ; Exons/genetics ; Genes, BRCA1 ; Genes, Essential/genetics ; Genomics/*methods ; Humans ; Molecular Sequence Annotation/*methods ; Mutagenesis/*genetics ; Nonsense Mediated mRNA Decay ; Open Reading Frames/genetics ; Point Mutation/genetics ; RNA Nucleotidyltransferases/genetics ; RNA Splicing/genetics ; Recombinational DNA Repair/*genetics ; Regulatory Sequences, Nucleic Acid/genetics ; Templates, Genetic
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 7
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    American Association for the Advancement of Science (AAAS)
    Publication Date: 2006-06-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Boyle, Edward A -- New York, N.Y. -- Science. 2006 Jun 23;312(5781):1758-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Earth, Atmospheric and Planetary Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. eaboyle@mit.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16794070" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Anthozoa/*chemistry/metabolism ; Calcification, Physiologic ; Calcium/metabolism ; Carbon Dioxide/metabolism ; Geologic Sediments/chemistry ; Invertebrates/chemistry/metabolism ; Ion Transport ; Mediterranean Sea ; Oceans and Seas ; Phosphorus/*analysis ; 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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  • 8
    Publication Date: 2007-02-03
    Description: Since the mid-1980s, our understanding of nutrient limitation of oceanic primary production has radically changed. Mesoscale iron addition experiments (FeAXs) have unequivocally shown that iron supply limits production in one-third of the world ocean, where surface macronutrient concentrations are perennially high. The findings of these 12 FeAXs also reveal that iron supply exerts controls on the dynamics of plankton blooms, which in turn affect the biogeochemical cycles of carbon, nitrogen, silicon, and sulfur and ultimately influence the Earth climate system. However, extrapolation of the key results of FeAXs to regional and seasonal scales in some cases is limited because of differing modes of iron supply in FeAXs and in the modern and paleo-oceans. New research directions include quantification of the coupling of oceanic iron and carbon biogeochemistry.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Boyd, P W -- Jickells, T -- Law, C S -- Blain, S -- Boyle, E A -- Buesseler, K O -- Coale, K H -- Cullen, J J -- de Baar, H J W -- Follows, M -- Harvey, M -- Lancelot, C -- Levasseur, M -- Owens, N P J -- Pollard, R -- Rivkin, R B -- Sarmiento, J -- Schoemann, V -- Smetacek, V -- Takeda, S -- Tsuda, A -- Turner, S -- Watson, A J -- New York, N.Y. -- Science. 2007 Feb 2;315(5812):612-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉National Institute for Water and Atmospheric Research (NIWA) Centre for Chemical and Physical Oceanography, Department of Chemistry, University of Otago, Dunedin, New Zealand. pboyd@alkali.otago.ac.nz〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17272712" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Atmosphere ; Carbon/analysis/metabolism ; Carbon Dioxide ; Chlorophyll/analysis ; Climate ; Diatoms/growth & development ; *Ecosystem ; *Iron/analysis ; Oceans and Seas ; Phytoplankton/*growth & development/metabolism ; *Seawater ; Zooplankton/*growth & development
    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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  • 9
    Publication Date: 2010-05-08
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gleick, P H -- Adams, R M -- Amasino, R M -- Anders, E -- Anderson, D J -- Anderson, W W -- Anselin, L E -- Arroyo, M K -- Asfaw, B -- Ayala, F J -- Bax, A -- Bebbington, A J -- Bell, G -- Bennett, M V L -- Bennetzen, J L -- Berenbaum, M R -- Berlin, O B -- Bjorkman, P J -- Blackburn, E -- Blamont, J E -- Botchan, M R -- Boyer, J S -- Boyle, E A -- Branton, D -- Briggs, S P -- Briggs, W R -- Brill, W J -- Britten, R J -- Broecker, W S -- Brown, J H -- Brown, P O -- Brunger, A T -- Cairns, J Jr -- Canfield, D E -- Carpenter, S R -- Carrington, J C -- Cashmore, A R -- Castilla, J C -- Cazenave, A -- Chapin, F S 3rd -- Ciechanover, A J -- Clapham, D E -- Clark, W C -- Clayton, R N -- Coe, M D -- Conwell, E M -- Cowling, E B -- Cowling, R M -- Cox, C S -- Croteau, R B -- Crothers, D M -- Crutzen, P J -- Daily, G C -- Dalrymple, G B -- Dangl, J L -- Darst, S A -- Davies, D R -- Davis, M B -- De Camilli, P V -- Dean, C -- DeFries, R S -- Deisenhofer, J -- Delmer, D P -- DeLong, E F -- DeRosier, D J -- Diener, T O -- Dirzo, R -- Dixon, J E -- Donoghue, M J -- Doolittle, R F -- Dunne, T -- Ehrlich, P R -- Eisenstadt, S N -- Eisner, T -- Emanuel, K A -- Englander, S W -- Ernst, W G -- Falkowski, P G -- Feher, G -- Ferejohn, J A -- Fersht, A -- Fischer, E H -- Fischer, R -- Flannery, K V -- Frank, J -- Frey, P A -- Fridovich, I -- Frieden, C -- Futuyma, D J -- Gardner, W R -- Garrett, C J R -- Gilbert, W -- Goldberg, R B -- Goodenough, W H -- Goodman, C S -- Goodman, M -- Greengard, P -- Hake, S -- Hammel, G -- Hanson, S -- Harrison, S C -- Hart, S R -- Hartl, D L -- Haselkorn, R -- Hawkes, K -- Hayes, J M -- Hille, B -- Hokfelt, T -- House, J S -- Hout, M -- Hunten, D M -- Izquierdo, I A -- Jagendorf, A T -- Janzen, D H -- Jeanloz, R -- Jencks, C S -- Jury, W A -- Kaback, H R -- Kailath, T -- Kay, P -- Kay, S A -- Kennedy, D -- Kerr, A -- Kessler, R C -- Khush, G S -- Kieffer, S W -- Kirch, P V -- Kirk, K -- Kivelson, M G -- Klinman, J P -- Klug, A -- Knopoff, L -- Kornberg, H -- Kutzbach, J E -- Lagarias, J C -- Lambeck, K -- Landy, A -- Langmuir, C H -- Larkins, B A -- Le Pichon, X T -- Lenski, R E -- Leopold, E B -- Levin, S A -- Levitt, M -- Likens, G E -- Lippincott-Schwartz, J -- Lorand, L -- Lovejoy, C O -- Lynch, M -- Mabogunje, A L -- Malone, T F -- Manabe, S -- Marcus, J -- Massey, D S -- McWilliams, J C -- Medina, E -- Melosh, H J -- Meltzer, D J -- Michener, C D -- Miles, E L -- Mooney, H A -- Moore, P B -- Morel, F M M -- Mosley-Thompson, E S -- Moss, B -- Munk, W H -- Myers, N -- Nair, G B -- Nathans, J -- Nester, E W -- Nicoll, R A -- Novick, R P -- O'Connell, J F -- Olsen, P E -- Opdyke, N D -- Oster, G F -- Ostrom, E -- Pace, N R -- Paine, R T -- Palmiter, R D -- Pedlosky, J -- Petsko, G A -- Pettengill, G H -- Philander, S G -- Piperno, D R -- Pollard, T D -- Price, P B Jr -- Reichard, P A -- Reskin, B F -- Ricklefs, R E -- Rivest, R L -- Roberts, J D -- Romney, A K -- Rossmann, M G -- Russell, D W -- Rutter, W J -- Sabloff, J A -- Sagdeev, R Z -- Sahlins, M D -- Salmond, A -- Sanes, J R -- Schekman, R -- Schellnhuber, J -- Schindler, D W -- Schmitt, J -- Schneider, S H -- Schramm, V L -- Sederoff, R R -- Shatz, C J -- Sherman, F -- Sidman, R L -- Sieh, K -- Simons, E L -- Singer, B H -- Singer, M F -- Skyrms, B -- Sleep, N H -- Smith, B D -- Snyder, S H -- Sokal, R R -- Spencer, C S -- Steitz, T A -- Strier, K B -- Sudhof, T C -- Taylor, S S -- Terborgh, J -- Thomas, D H -- Thompson, L G -- Tjian, R T -- Turner, M G -- Uyeda, S -- Valentine, J W -- Valentine, J S -- Van Etten, J L -- van Holde, K E -- Vaughan, M -- Verba, S -- von Hippel, P H -- Wake, D B -- Walker, A -- Walker, J E -- Watson, E B -- Watson, P J -- Weigel, D -- Wessler, S R -- West-Eberhard, M J -- White, T D -- Wilson, W J -- Wolfenden, R V -- Wood, J A -- Woodwell, G M -- Wright, H E Jr -- Wu, C -- Wunsch, C -- Zoback, M L -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2010 May 7;328(5979):689-90. doi: 10.1126/science.328.5979.689.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20448167" target="_blank"〉PubMed〈/a〉
    Keywords: *Climate Change ; Politics ; Public Policy ; Research/standards ; Research Personnel
    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: 1982-11-19
    Description: Variations in the cadmium/calcium ratio of North Atlantic Deep Water are recorded in the fossil shells of benthic foraminifera. The oceanic distribution of cadmium is similar to that of the nutrients, hence the cadmium/calcium ratio in shells records temporal variations in nutrient distributions. Data from a North Atlantic sediment core show that over the past 200,000 years there has been a continuous supply of nutrient-depleted waters into the deep North Atlantic. The intensity of this source relative to nutrient-enriched southern waters diminished by about a factor of 2 during severe glaciations. This evidence combined with carbon isotope data indicates that the continental carbon inventory may have been less variable than previously suggested.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Boyle, E A -- Keigwin, L D -- New York, N.Y. -- Science. 1982 Nov 19;218(4574):784-7.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17771034" 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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