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  • 1
    Publication Date: 2013-04-13
    Description: Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677541/" 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/PMC3677541/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bolze, Alexandre -- Mahlaoui, Nizar -- Byun, Minji -- Turner, Bridget -- Trede, Nikolaus -- Ellis, Steven R -- Abhyankar, Avinash -- Itan, Yuval -- Patin, Etienne -- Brebner, Samuel -- Sackstein, Paul -- Puel, Anne -- Picard, Capucine -- Abel, Laurent -- Quintana-Murci, Lluis -- Faust, Saul N -- Williams, Anthony P -- Baretto, Richard -- Duddridge, Michael -- Kini, Usha -- Pollard, Andrew J -- Gaud, Catherine -- Frange, Pierre -- Orbach, Daniel -- Emile, Jean-Francois -- Stephan, Jean-Louis -- Sorensen, Ricardo -- Plebani, Alessandro -- Hammarstrom, Lennart -- Conley, Mary Ellen -- Selleri, Licia -- Casanova, Jean-Laurent -- 8UL1TR000043/TR/NCATS NIH HHS/ -- R01 HD061403/HD/NICHD NIH HHS/ -- R01HD061403/HD/NICHD NIH HHS/ -- UL1 TR000043/TR/NCATS NIH HHS/ -- New York, N.Y. -- Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23579497" target="_blank"〉PubMed〈/a〉
    Keywords: DNA Mutational Analysis ; Genetic Loci ; *Haploinsufficiency ; Heterotaxy Syndrome/*genetics ; Humans ; Mutation ; Pedigree ; Penetrance ; Receptors, Laminin/*genetics ; Ribosomal Proteins/*genetics ; Spleen/*abnormalities/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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  • 2
    Publication Date: 2015-08-01
    Description: The impacts of climate extremes on terrestrial ecosystems are poorly understood but important for predicting carbon cycle feedbacks to climate change. Coupled climate-carbon cycle models typically assume that vegetation recovery from extreme drought is immediate and complete, which conflicts with the understanding of basic plant physiology. We examined the recovery of stem growth in trees after severe drought at 1338 forest sites across the globe, comprising 49,339 site-years, and compared the results with simulated recovery in climate-vegetation models. We found pervasive and substantial "legacy effects" of reduced growth and incomplete recovery for 1 to 4 years after severe drought. Legacy effects were most prevalent in dry ecosystems, among Pinaceae, and among species with low hydraulic safety margins. In contrast, limited or no legacy effects after drought were simulated by current climate-vegetation models. Our results highlight hysteresis in ecosystem-level carbon cycling and delayed recovery from climate extremes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Anderegg, W R L -- Schwalm, C -- Biondi, F -- Camarero, J J -- Koch, G -- Litvak, M -- Ogle, K -- Shaw, J D -- Shevliakova, E -- Williams, A P -- Wolf, A -- Ziaco, E -- Pacala, S -- New York, N.Y. -- Science. 2015 Jul 31;349(6247):528-32. doi: 10.1126/science.aab1833.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ 08544, USA. Department of Biology, University of Utah, Salt Lake City, UT 84112, USA. ; Center for Ecosystem Science and Society, Northern Arizona University, Flagstaff, AZ 86011, USA. School of Earth Sciences and Environmental Sustainability, Northern Arizona University, Flagstaff, AZ 86011, USA. ; DendroLab and Graduate Program of Ecology, Evolution, and Conservation Biology, University of Nevada-Reno, Reno, NV 89557, USA. ; Instituto Pirenaico de Ecologia, Consejo Superior de Investigaciones Cientificas, Avda. Montanana 1005, 50192 Zaragoza, Spain. ; Center for Ecosystem Science and Society, Northern Arizona University, Flagstaff, AZ 86011, USA. ; Department of Biology, University of New Mexico, Albuquerque, NM 87131, USA. ; School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA. ; Rocky Mountain Research Station, U.S. Forest Service, Ogden, UT 84401, USA. ; National Oceanic and Atmospheric Administration (NOAA) Geophysical Fluid Dynamics Laboratory, Princeton, NJ 08540, USA. ; Lamont-Doherty Earth Observatory of Columbia University, 61 Route 9W, Palisades, NY 10964, USA. ; Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ 08544, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26228147" target="_blank"〉PubMed〈/a〉
    Keywords: *Carbon Cycle ; *Climate Change ; *Droughts ; Europe ; *Forests ; Models, Theoretical ; Trees/*growth & development ; United States
    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: 1981-07-10
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Williams, A P -- New York, N.Y. -- Science. 1981 Jul 10;213(4504):202-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17782780" 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: 2018
    Description: 〈p〉We assess scientific evidence that has emerged since the U.S. Environmental Protection Agency’s 2009 Endangerment Finding for six well-mixed greenhouse gases, and find that this new evidence lends increased support to the conclusion that these gases pose a danger to public health and welfare. Newly available evidence about a wide range of observed and projected impacts strengthens the association between risk of some of these impacts and anthropogenic climate change; indicates that some impacts or combinations of impacts have the potential to be more severe than previously understood; and identifies substantial risk of additional impacts through processes and pathways not considered in the endangerment finding.〈/p〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Natural Sciences in General
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  • 5
    Publication Date: 2019
    Description: 〈p〉We assess scientific evidence that has emerged since the U.S. Environmental Protection Agency’s 2009 Endangerment Finding for six well-mixed greenhouse gases and find that this new evidence lends increased support to the conclusion that these gases pose a danger to public health and welfare. Newly available evidence about a wide range of observed and projected impacts strengthens the association between the risk of some of these impacts and anthropogenic climate change, indicates that some impacts or combinations of impacts have the potential to be more severe than previously understood, and identifies substantial risk of additional impacts through processes and pathways not considered in the Endangerment Finding.〈/p〉
    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: 2019
    Description: 〈p〉Multidecadal "megadroughts" were a notable feature of the climate of the American Southwest over the Common era, yet we still lack a comprehensive theory for what caused these megadroughts and why they curiously only occurred before about 1600 CE. Here, we use the Paleo Hydrodynamics Data Assimilation product, in conjunction with radiative forcing estimates, to demonstrate that megadroughts in the American Southwest were driven by unusually frequent and cold central tropical Pacific sea surface temperature (SST) excursions in conjunction with anomalously warm Atlantic SSTs and a locally positive radiative forcing. This assessment of past megadroughts provides the first comprehensive theory for the causes of megadroughts and their clustering particularly during the Medieval era. This work also provides the first paleoclimatic support for the prediction that the risk of American Southwest megadroughts will markedly increase with global warming.〈/p〉
    Electronic ISSN: 2375-2548
    Topics: Natural Sciences in General
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