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  • 1
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    Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening (2015)
    BioMed Central
    Details
    Publication Date: 2015-07-31
    Description: Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid β-oxidation and a target disease of newborn screening in many countries.Case presentationWe report on two siblings with mild MCAD deficiency associated with a novel splice site mutation in the ACADM gene. The younger sibling was detected by newborn screening, while the older sister was missed, but diagnosed later on by genetic family testing. Both children were found to be compound heterozygous for the common c.985A 〉 G (p.K329E) mutation and a novel splice site mutation, c.600-18G 〉 A, in the ACADM gene. To determine the biological consequence of the c.600-18G 〉 A mutation putative missplicing was investigated at RNA level in granulocytes and monocytes of one of the patients. The splice site mutation was shown to lead to partial missplicing of the ACADM pre-mRNA. Of three detected transcripts two result in truncated, non-functional MCAD proteins as reflected by the reduced octanoyl-CoA oxidation rate in both patients. In one patient a decrease of the octanoyl-CoA oxidation rate was found during a febrile infection indicating that missplicing may be temperature-sensitive. Conclusions: Our data indicate that the c.600-18G 〉 A variant activates a cryptic splice site, which competes with the natural splice site. Due to only partial missplicing sufficient functional MCAD protein remains to result in mild MCADD that may be missed by newborn screening.
    Electronic ISSN: 1471-2350
    Topics: Biology , Medicine
    Published by BioMed Central
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  • 2
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    Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals (2016)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2016-03-19
    Description: Although Neandertal sequences that persist in the genomes of modern humans have been identified in Eurasians, comparable studies in people whose ancestors hybridized with both Neandertals and Denisovans are lacking. We developed an approach to identify DNA inherited from multiple archaic hominin ancestors and applied it to whole-genome sequences from 1523 geographically diverse individuals, including 35 previously unknown Island Melanesian genomes. In aggregate, we recovered 1.34 gigabases and 303 megabases of the Neandertal and Denisovan genome, respectively. We use these maps of archaic sequences to show that Neandertal admixture occurred multiple times in different non-African populations, characterize genomic regions that are significantly depleted of archaic sequences, and identify signatures of adaptive introgression.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Vernot, Benjamin -- Tucci, Serena -- Kelso, Janet -- Schraiber, Joshua G -- Wolf, Aaron B -- Gittelman, Rachel M -- Dannemann, Michael -- Grote, Steffi -- McCoy, Rajiv C -- Norton, Heather -- Scheinfeldt, Laura B -- Merriwether, David A -- Koki, George -- Friedlaender, Jonathan S -- Wakefield, Jon -- Paabo, Svante -- Akey, Joshua M -- 5R01GM110068/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2016 Apr 8;352(6282):235-9. doi: 10.1126/science.aad9416. Epub 2016 Mar 17.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genome Sciences, University of Washington, Seattle, Washington, USA. ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA. Department of Life Sciences and Biotechnology, University of Ferrara, Italy. ; Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany. ; Department of Anthropology, University of Cincinnati, Cincinnati, OH, USA. ; Department of Biology and Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA. ; Department of Anthropology, Binghamton University, Binghamton, NY, USA. ; Institute for Medical Research, Goroka, Eastern Highlands Province, Papua New Guinea. ; Department of Anthropology, Temple University, Philadelphia PA, USA. ; Department of Statistics, University of Washington, Seattle, Washington, USA. ; Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany. paabo@eva.mpg.de akeyj@uw.edu. ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA. paabo@eva.mpg.de akeyj@uw.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26989198" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; DNA/*genetics ; Genetic Variation ; Genome, Human/*genetics ; Humans ; Melanesia ; Neanderthals/*genetics ; Oceanic Ancestry Group/*genetics ; Sequence Analysis, DNA
    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
    Electronic Resource
    Electronic Resource
    In vivo monitoring of glutamate in the brain by microdialysis and capillary electrophoresis with laser-induced fluorescence detection
    Amsterdam : Elsevier
    Journal of Chromatography A 652 (1993), S. 393-398 
    Details
    ISSN: 0021-9673
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0021-9673(93)83258-T
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  • 4
    Electronic Resource
    Electronic Resource
    Assessing variations in suspensates, Ligurian Sea (northwestern Mediterranean) (1981)
    Springer
    Geo-marine letters 1 (1981), S. 149-154 
    Details
    ISSN: 1432-1157
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences
    Notes: Abstract High variability of suspensates in the surface water of the Ligurian Sea, an area of limited fluvial sources, sampled at a time of low terrestrial influx raises serious questions regarding conclusions about fluxes or budgets drawn from samples taken during a single cruise. The probability that concentrations found during a single cruise represent a long-term average is very small. On four cruises we found that concentrations of suspended material in the surface waters of the Ligurian Sea were highly variable, even at repeated stations. Variability is largely the result of changes in location of divergences and localized upwelling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02463333
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  • 5
    Electronic Resource
    Electronic Resource
    Demonstration of lateral asymmetry in G-banded mouse embryo chromosomes (1977)
    Springer
    Cellular and molecular life sciences 33 (1977), S. 1437-1438 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cells obtained from 10-day mouse embryos were cultured for 3 h in medium containing colcemid. Chromosome preparations were subjected to G-banding in either calcium-magnesium free Hank's solution or the ASG method. From one to several occurrences of lateral asymmetry (unequal banding of sister chromatids) were observed in the majority of karyotypes analyzed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01918791
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  • 6
    Electronic Resource
    Electronic Resource
    Transport and distribution of sediments along the Ligurian coast (1992)
    Springer
    Hydrobiologia 235-236 (1992), S. 17-32 
    Details
    ISSN: 1573-5117
    Keywords: coastal ; sediments ; transport ; particulate matter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A study of the granulometric, mineralogical and chemical composition of surface sediments and suspended particulate matter in the coastal area between Varazze and Cape Noli (Ligurian Sea), provided useful information on transport and sedimentation processes in the area. Sediments samples from the shelf were highly heterogeneous, ranging from pelites to sands. Minerals typical of individual river basins were found close to river mouths, indicating a limited sediment transport along the coast. Chemical and textural characteristics of the suspended particulate matter indicated that the longshore sediment transport is influenced by the presence of a submarine canyon; material coming from the east, following the Ligurian current, is partially diverted offshore along the canyon axis. The coastline pattern, some harbor artifacts, and the peculiar morphology of the shelf are all factors controlling the direction of sediment transport.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00026197
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  • 7
    Electronic Resource
    Electronic Resource
    Analyse et optimisation d'une procédure de reprise dans un système de gestion de données centralisées (1979)
    Springer
    Acta informatica 12 (1979), S. 321-338 
    Details
    ISSN: 1432-0525
    Source: Springer Online Journal Archives 1860-2000
    Topics: Computer Science
    Description / Table of Contents: Summary We have investigated a transaction oriented computer system operating in the presence of intermittent failures. The system integrity is maintained by a built-in checkpoint and roll-back recovery schema. The analytical results, concerning system availability and stability, are compared with those of Gelenbe [10] and validated through simulation.
    Notes: Resumé Le sujet de cet article est l'étude d'un système de gestion de données qui opère en présence de pannes intermittentes et dans lequel des points de reprise (PR) sont établis pour permettre la reprise après une défaillance du système. Un PR est établi après le traitement de N transactions, N étant un nombre entier fixe. Nous proposons un modèle mathématique qui nous permet de calculer la disponibilité du système. Des simulations sont également faites pour valider ces résultats. Nous comparons nos résultats à ceux de Gelenbe [10] qui suppose qu'un PR est établi après un temps fixe de fonctionnement normal du système et nous montrons que, sous certaines conditions, les deux approches sont équivalentes aussi bien du point de vue de la disponibilité du système que des valeurs optimales du temps entre PR successifs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00268319
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  • 8
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    The Ligurian Sea: present status, problems and perspectives (2010)
    Taylor & Francis
    Details
    Publication Date: 2022-02-18
    Description: The Ligurian Sea is a deep basin in the northernmost sector of the western Mediterranean which shows peculiar hydrodynamic and meteo-oceanographic features. The coasts of the Ligurian Sea are among the most urbanised and industrialised along the Italian coastline: the main causes of disturbance being littoral urban development and harbour activities, the building of littoral rail- and highways, and the presence of several polluted discharges. This review, by evaluating the huge scientific output published in the last three decades, describes and discusses the most important geological, hydrological and biological characteristics of the Ligurian Sea.We show that this regional sea has largely been investigated in terms of its geological and structural evolution, as well as in terms of the sedimentation dynamics of the littoral and deep bottoms, with particular attention to the sedimentation balance of the beaches and their erosive processes.We report that the prevalent hydrodynamic and meteo-oceanographic conditions favour a continuous exchange of coastal water masses, and that the seasonal and interannual dynamics of water masses can effects the local climate, with direct and indirect consequences on fish and benthic communities documented in the last decade. We stress that although recent studies offer good knowledge of the distribution of coastal benthic communities, only scant information is available for the whole continental shelf, the submarine canyons and the rocky bathyal bottoms. Our meta-analysis reveals that significant fishing activities are monitored, but also that certain sectors of the biological resource are suffering, and suggests the set up of appropriate management measures. The Ligurian Sea hosts a number of Marine Protected Areas (MPAs) of high relevance, while the institution of the Whale Sanctuary completes the protection policy of the Regione Liguria. Our meta-analysis points out the need for long-term studies, based primarily on the analysis of those areas of the Ligurian Sea that have been little investigated to date. Finally, only properly addressed studies, using experimental approaches and along appropriate spatial and temporal scales, might allow us to understand the functioning of the Ligurian marine ecosystems, evaluate their health conditions and the dynamics of the main variables that affect the distribution of the single species (including species of high economic value) and benthic communities.
    Description: Published
    Description: 319-340
    Description: 3.7. Dinamica del clima e dell'oceano
    Description: JCR Journal
    Description: restricted
    Keywords: Mediterranean Sea ; Ligurian Sea ; geomorphology ; hydrology ; plankton ; benthos ; necton ; fisheries ; biodiversity ; introduced species ; Marine Protected Areas ; environmental policy ; 03. Hydrosphere::03.01. General::03.01.07. Physical and biogeochemical interactions
    Repository Name: Istituto Nazionale di Geofisica e Vulcanologia (INGV)
    Type: article
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  • 9
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    Demographic History of the Genus Pan Inferred from Whole Mitochondrial Genome Reconstructions (2016)
    Oxford University Press
    Details
    Publication Date: 2016-07-05
    Description: The genus Pan is the closest genus to our own and it includes two species, Pan paniscus (bonobos) and Pan troglodytes (chimpanzees). The later is constituted by four subspecies, all highly endangered. The study of the Pan genera has been incessantly complicated by the intricate relationship among subspecies and the statistical limitations imposed by the reduced number of samples or genomic markers analyzed. Here, we present a new method to reconstruct complete mitochondrial genomes (mitogenomes) from whole genome shotgun (WGS) datasets, mtArchitect, showing that its reconstructions are highly accurate and consistent with long-range PCR mitogenomes. We used this approach to build the mitochondrial genomes of 20 newly sequenced samples which, together with available genomes, allowed us to analyze the hitherto most complete Pan mitochondrial genome dataset including 156 chimpanzee and 44 bonobo individuals, with a proportional contribution from all chimpanzee subspecies. We estimated the separation time between chimpanzees and bonobos around 1.15 million years ago (Mya) [0.81–1.49]. Further, we found that under the most probable genealogical model the two clades of chimpanzees, Western + Nigeria-Cameroon and Central + Eastern, separated at 0.59 Mya [0.41–0.78] with further internal separations at 0.32 Mya [0.22–0.43] and 0.16 Mya [0.17–0.34], respectively. Finally, for a subset of our samples, we compared nuclear versus mitochondrial genomes and we found that chimpanzee subspecies have different patterns of nuclear and mitochondrial diversity, which could be a result of either processes affecting the mitochondrial genome, such as hitchhiking or background selection, or a result of population dynamics.
    Electronic ISSN: 1759-6653
    Topics: Biology
    Published by Oxford University Press
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  • 10
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    Demonstration of lateral asymmetry in G-banded mouse embryo chromosomes (1977)
    Springer
    Details
    Publication Date: 1977-11-01
    Print ISSN: 0014-4754
    Topics: Biology , Medicine
    Published by Springer
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