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  • 1
    Keywords: SPECTRA ; RISK ; GENE ; GENES ; SAMPLES ; COMPLEX ; COMPLEXES ; FAMILY ; ASSOCIATION ; chromosome ; LINKAGE ; NUMBER ; SNP ; HUMAN GENOME ; TWIN ; PREVALENCE ; DISSECTION ; GLUTAMATE ; FAMILIES ; ARRAY ; REARRANGEMENT ; CANDIDATE ; SPECTRUM ; MENTAL-RETARDATION ; LOCI ; NEUROLIGINS ; SPECTRUM DISORDERS
    Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs
    Type of Publication: Journal article published
    PubMed ID: 17322880
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  • 2
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    ISSN: 1057-9257
    Keywords: X-ray resists ; Electron beam ; Acrylate and methacrylate polymers ; Polysulphones ; Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Electrical Engineering, Measurement and Control Technology , Physics
    Notes: The optimisation of the lithographic performance of negative-working electron beam resists is developed through consideration of the radiation chemistry of crosslinking of representative materials, typically epoxy-functionalised polymers and polystyrene and its derivatives. Similarly, the lithographic behaviour of positive-working systems based on radiation-induced chain scission reactions is discussed with reference to acrylate and methacrylate polymers and polysulphones. The difficulties encountered in devising desirable working systems based on novolacs are considered and contrasted with the promise offered by recent developments arising from the extension of chemical amplification techniques to the electron beam lithographic domain.
    Additional Material: 15 Ill.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0268-2605
    Keywords: Boron ; anti-neoplastic ; leukemia ; topoisomerase II ; RNA polymerase ; DNA polymerases ; acute toxicity ; Chemistry ; Organic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Studies on the mode of action of two boroncontaining anti-neoplastic agents, ethylamine-carboxyborane and triphenylphosphine-carboxyborane, are reported. The major site of inhibition was in the pyrimidine de nove synthetic pathway at orotidine monophosphate decarboxylase activity. Additional sites which may facilitate the inhibition of cell growth were IMP dehydrogenase, thymidine kinase, TMP kinase and TDP kinase, m-RNA, r-RNA and t-RNA polymerase activities as well as topoisomerase II activity. The reduction in enzyme activities led to sufficient reduction of d(NTP) levels to suppress DNA synthesis and cell growth. DNA strand scission was evident in the presence of drug. Multiple modes of action are common with amine-carboxyboranes. Acute toxicity studies in mice showed that both agents were safe in their therapeutic range based on organ weights, histological tissue sections, clinical chemistry values and hematopoietic parameters.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Digestive diseases and sciences 5 (1960), S. 88-93 
    ISSN: 1573-2568
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 1. The diagnosis of esophagitis entails a careful history, radiologic and endoscopic examinations, and histologic study of biopsy material. 2. Histologic examination of the esophageal mucosa will most likely reveal submucosal inflammatory changes even when the mucosa appears normal to the unaided eye of the endoscopist. 3. Cases illustrating both early and late stages of the disease are described.
    Type of Medium: Electronic Resource
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  • 5
    Publication Date: 2018-09-07
    Description: Adult hippocampal neurogenesis (AHN) is impaired before the onset of Alzheimer’s disease (AD) pathology. We found that exercise provided cognitive benefit to 5 x FAD mice, a mouse model of AD, by inducing AHN and elevating levels of brain-derived neurotrophic factor (BDNF). Neither stimulation of AHN alone, nor exercise, in the absence of increased AHN, ameliorated cognition. We successfully mimicked the beneficial effects of exercise on AD mice by genetically and pharmacologically inducing AHN in combination with elevating BDNF levels. Suppressing AHN later led to worsened cognitive performance and loss of preexisting dentate neurons. Thus, pharmacological mimetics of exercise, enhancing AHN and elevating BDNF levels, may improve cognition in AD. Furthermore, applied at early stages of AD, these mimetics may protect against subsequent neuronal cell death.
    Keywords: Medicine, Diseases, Neuroscience, Online Only
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 2018-10-28
    Description: Martin Harterink, Stacey L. Edwards, Bart de Haan, Kah Wai Yau, Sander van den Heuvel, Lukas C. Kapitein, Kenneth G. Miller, and Casper C. Hoogenraad The specific organization of the neuronal microtubule cytoskeleton in axons and dendrites is an evolutionarily conserved determinant of neuronal polarity that allows for selective cargo sorting. However, how dendritic microtubules are organized and whether local differences influence cargo transport remains largely unknown. Here, we use live-cell imaging to systematically probe the microtubule organization in Caenorhabditis elegans neurons, and demonstrate the contribution of distinct mechanisms in the organization of dendritic microtubules. We found that most non-ciliated neurons depend on unc-116 (kinesin-1), unc-33 (CRMP) and unc-44 (ankyrin) for correct microtubule organization and polarized cargo transport, as previously reported. Ciliated neurons and the URX neuron, however, use an additional pathway to nucleate microtubules at the tip of the dendrite, from the base of the cilium in ciliated neurons. Since inhibition of distal microtubule nucleation affects distal dendritic transport, we propose a model in which the presence of a microtubule-organizing center at the dendrite tip ensures correct dendritic cargo transport.
    Keywords: Microtubule Dynamics
    Print ISSN: 0021-9533
    Electronic ISSN: 1477-9137
    Topics: Biology , Medicine
    Published by Company of Biologists
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  • 7
    Publication Date: 2015-09-08
    Description: To contend with hazards posed by environmental fluoride, microorganisms export this anion through F(-)-specific ion channels of the Fluc family. Since the recent discovery of Fluc channels, numerous idiosyncratic features of these proteins have been unearthed, including strong selectivity for F(-) over Cl(-) and dual-topology dimeric assembly. To understand the chemical basis for F(-) permeation and how the antiparallel subunits convene to form a F(-)-selective pore, here we solve the crystal structures of two bacterial Fluc homologues in complex with three different monobody inhibitors, with and without F(-) present, to a maximum resolution of 2.1 A. The structures reveal a surprising 'double-barrelled' channel architecture in which two F(-) ion pathways span the membrane, and the dual-topology arrangement includes a centrally coordinated cation, most likely Na(+). F(-) selectivity is proposed to arise from the very narrow pores and an unusual anion coordination that exploits the quadrupolar edges of conserved phenylalanine rings.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stockbridge, Randy B -- Kolmakova-Partensky, Ludmila -- Shane, Tania -- Koide, Akiko -- Koide, Shohei -- Miller, Christopher -- Newstead, Simon -- 102890/Z/13/Z/Wellcome Trust/United Kingdom -- K99 GM111767/GM/NIGMS NIH HHS/ -- K99-GM-111767/GM/NIGMS NIH HHS/ -- R01 GM107023/GM/NIGMS NIH HHS/ -- R01-GM107023/GM/NIGMS NIH HHS/ -- U54 GM087519/GM/NIGMS NIH HHS/ -- U54-GM087519/GM/NIGMS NIH HHS/ -- England -- Nature. 2015 Sep 24;525(7570):548-51. doi: 10.1038/nature14981. Epub 2015 Sep 7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry, Howard Hughes Medical Institute, Brandeis University, Waltham, Massachusetts 02454, USA. ; Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, Illinois 60637, USA. ; Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford OX1 3QU, UK. ; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26344196" target="_blank"〉PubMed〈/a〉
    Keywords: Anions/chemistry/metabolism/pharmacology ; Bacterial Proteins/*chemistry/*metabolism ; Cell Membrane/metabolism ; Crystallography, X-Ray ; Fluorides/chemistry/*metabolism/*pharmacology ; Ion Channels/*chemistry/*metabolism ; Models, Biological ; Models, Molecular ; Phenylalanine/metabolism ; Protein Conformation
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 8
    Publication Date: 2011-06-28
    Description: Evolutionary studies necessary to dissect diverse biological processes have been limited by the lack of reverse genetic approaches in most organisms with sequenced genomes. We established a broadly applicable strategy using zinc finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) for targeted disruption of endogenous genes and cis-acting regulatory elements in diverged nematode species.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3489282/" 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/PMC3489282/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wood, Andrew J -- Lo, Te-Wen -- Zeitler, Bryan -- Pickle, Catherine S -- Ralston, Edward J -- Lee, Andrew H -- Amora, Rainier -- Miller, Jeffrey C -- Leung, Elo -- Meng, Xiangdong -- Zhang, Lei -- Rebar, Edward J -- Gregory, Philip D -- Urnov, Fyodor D -- Meyer, Barbara J -- GM30702/GM/NIGMS NIH HHS/ -- R01 GM030702/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2011 Jul 15;333(6040):307. doi: 10.1126/science.1207773. Epub 2011 Jun 23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute (HHMI), Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720-3204, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21700836" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Caenorhabditis/*genetics ; Caenorhabditis elegans/*genetics ; Deoxyribonucleases, Type II Site-Specific/genetics/*metabolism ; Gene Targeting ; Genes, Helminth ; *Genetic Techniques ; *Genome, Helminth ; INDEL Mutation ; Mutagenesis ; Regulatory Elements, Transcriptional/*genetics ; Transcription Factors/chemistry ; Transgenes ; *Zinc Fingers
    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: 2014-05-07
    Description: Parabiosis experiments indicate that impaired regeneration in aged mice is reversible by exposure to a young circulation, suggesting that young blood contains humoral "rejuvenating" factors that can restore regenerative function. Here, we demonstrate that the circulating protein growth differentiation factor 11 (GDF11) is a rejuvenating factor for skeletal muscle. Supplementation of systemic GDF11 levels, which normally decline with age, by heterochronic parabiosis or systemic delivery of recombinant protein, reversed functional impairments and restored genomic integrity in aged muscle stem cells (satellite cells). Increased GDF11 levels in aged mice also improved muscle structural and functional features and increased strength and endurance exercise capacity. These data indicate that GDF11 systemically regulates muscle aging and may be therapeutically useful for reversing age-related skeletal muscle and stem cell dysfunction.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104429/" 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/PMC4104429/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sinha, Manisha -- Jang, Young C -- Oh, Juhyun -- Khong, Danika -- Wu, Elizabeth Y -- Manohar, Rohan -- Miller, Christine -- Regalado, Samuel G -- Loffredo, Francesco S -- Pancoast, James R -- Hirshman, Michael F -- Lebowitz, Jessica -- Shadrach, Jennifer L -- Cerletti, Massimiliano -- Kim, Mi-Jeong -- Serwold, Thomas -- Goodyear, Laurie J -- Rosner, Bernard -- Lee, Richard T -- Wagers, Amy J -- 1DP2 OD004345/OD/NIH HHS/ -- 1R01 AG033053/AG/NIA NIH HHS/ -- 1R01 AG040019/AG/NIA NIH HHS/ -- 5U01 HL100402/HL/NHLBI NIH HHS/ -- DP2 OD004345/OD/NIH HHS/ -- P30 AG038072/AG/NIA NIH HHS/ -- R01 AG032977/AG/NIA NIH HHS/ -- R01 AG033053/AG/NIA NIH HHS/ -- R01 AG040019/AG/NIA NIH HHS/ -- R01 AR042238/AR/NIAMS NIH HHS/ -- R01 AR42238/AR/NIAMS NIH HHS/ -- T32 DE007057/DE/NIDCR NIH HHS/ -- U01 HL100402/HL/NHLBI NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2014 May 9;344(6184):649-52. doi: 10.1126/science.1251152. Epub 2014 May 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Harvard Stem Cell Institute and Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24797481" target="_blank"〉PubMed〈/a〉
    Keywords: Age Factors ; Aging/blood/drug effects/*physiology ; Animals ; Bone Morphogenetic Proteins/administration & dosage/blood/*physiology ; Growth Differentiation Factors/administration & dosage/blood/*physiology ; Male ; Mice ; Mice, Inbred C57BL ; Muscle, Skeletal/*blood supply/drug effects/*physiology ; Myoblasts, Skeletal/drug effects/*physiology ; Parabiosis ; *Regeneration ; *Rejuvenation
    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: 2013-01-26
    Description: Pulsars emit from low-frequency radio waves up to high-energy gamma-rays, generated anywhere from the stellar surface out to the edge of the magnetosphere. Detecting correlated mode changes across the electromagnetic spectrum is therefore key to understanding the physical relationship among the emission sites. Through simultaneous observations, we detected synchronous switching in the radio and x-ray emission properties of PSR B0943+10. When the pulsar is in a sustained radio-"bright" mode, the x-rays show only an unpulsed, nonthermal component. Conversely, when the pulsar is in a radio-"quiet" mode, the x-ray luminosity more than doubles and a 100% pulsed thermal component is observed along with the nonthermal component. This indicates rapid, global changes to the conditions in the magnetosphere, which challenge all proposed pulsar emission theories.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hermsen, W -- Hessels, J W T -- Kuiper, L -- van Leeuwen, J -- Mitra, D -- de Plaa, J -- Rankin, J M -- Stappers, B W -- Wright, G A E -- Basu, R -- Alexov, A -- Coenen, T -- Griessmeier, J-M -- Hassall, T E -- Karastergiou, A -- Keane, E -- Kondratiev, V I -- Kramer, M -- Kuniyoshi, M -- Noutsos, A -- Serylak, M -- Pilia, M -- Sobey, C -- Weltevrede, P -- Zagkouris, K -- Asgekar, A -- Avruch, I M -- Batejat, F -- Bell, M E -- Bell, M R -- Bentum, M J -- Bernardi, G -- Best, P -- Birzan, L -- Bonafede, A -- Breitling, F -- Broderick, J -- Bruggen, M -- Butcher, H R -- Ciardi, B -- Duscha, S -- Eisloffel, J -- Falcke, H -- Fender, R -- Ferrari, C -- Frieswijk, W -- Garrett, M A -- de Gasperin, F -- de Geus, E -- Gunst, A W -- Heald, G -- Hoeft, M -- Horneffer, A -- Iacobelli, M -- Kuper, G -- Maat, P -- Macario, G -- Markoff, S -- McKean, J P -- Mevius, M -- Miller-Jones, J C A -- Morganti, R -- Munk, H -- Orru, E -- Paas, H -- Pandey-Pommier, M -- Pandey, V N -- Pizzo, R -- Polatidis, A G -- Rawlings, S -- Reich, W -- Rottgering, H -- Scaife, A M M -- Schoenmakers, A -- Shulevski, A -- Sluman, J -- Steinmetz, M -- Tagger, M -- Tang, Y -- Tasse, C -- ter Veen, S -- Vermeulen, R -- van de Brink, R H -- van Weeren, R J -- Wijers, R A M J -- Wise, M W -- Wucknitz, O -- Yatawatta, S -- Zarka, P -- New York, N.Y. -- Science. 2013 Jan 25;339(6118):436-9. doi: 10.1126/science.1230960.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉SRON, Netherlands Institute for Space Research, Sorbonnelaan 2, 3584 CA Utrecht, Netherlands. w.hermsen@sron.nl〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23349288" 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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