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  • 1
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    The Identification of the Genetic Components of Autism Spectrum Disorders 2017 (2021)
    MDPI - Multidisciplinary Digital Publishing Institute
    Details
    Publication Date: 2024-04-05
    Description: This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment.
    Keywords: QH301-705.5 ; genetic ; treatment ; genes ; biomarkers ; copy number variants and mutations ; genetic factors ; next generation DNA exome sequencing and functional analysis ; autism and autism spectrum disorders ; causation and etiology ; reviews ; neurodevelopment and physiology testing ; syndromes ; environmental risk factors ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
    Language: English
    Format: application/octet-stream
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    E-BOOK
  • 2
    Electronic Resource
    Electronic Resource
    Multiple roles of metal ions in the reaction catalyzed by yeast inorganic pyrophosphatase
    Amsterdam : Elsevier
    Bioinorganic Chemistry 7 (1977), S. 141-150 
    Details
    ISSN: 0006-3061
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/S0006-3061(00)80064-2
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    Paper (German National Licenses)
    Fulltext
  • 3
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    Bidecadal North Atlantic ocean circulation variability controlled by timing of volcanic eruptions (2015)
    Springer Nature
    Details
    Publication Date: 2015-04-01
    Description: Article While present in palaeoclimate records, the drivers behind 20-year climate variability are poorly understood. Here, using climate simulations and in situ and palaeo data, the authors present a possible link between volcanic eruptions, Great Salinity Anomalies and the Atlantic overturning circulation. Nature Communications doi: 10.1038/ncomms7545 Authors: Didier Swingedouw, Pablo Ortega, Juliette Mignot, Eric Guilyardi, Valérie Masson-Delmotte, Paul G. Butler, Myriam Khodri, Roland Séférian
    Electronic ISSN: 2041-1723
    Topics: Biology , Chemistry and Pharmacology , Natural Sciences in General , Physics
    Published by Springer Nature
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  • 4
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    A 45-year sub-annual reconstruction of seawater temperature in the Bay of Brest, France, using the shell oxygen isotope composition of the bivalve Glycymeris glycymeris (2019)
    Sage
    Details
    Publication Date: 2019
    Description: The Holocene, Ahead of Print. 〈br/〉A reconstruction of sea surface temperature (SST) spanning 45 years (1966–2011) was developed from δ18O obtained from the aragonitic shells of Glycymeris glycymeris, collected from the Bay of Brest, France. Bivalve sampling was undertaken monthly between 2014 and 2015 using a dredge. In total, 401 live specimens and 243 articulated paired valves from dead specimens were collected, of which 24 individuals were used to reconstruct SST. Temperatures determined using the palaeotemperature equation of Royer et al. compared well with observed SST during the growing season between 1998 and 2010 (Pearson’s correlation: p = 0.002, r = 0.760). Furthermore, a significant negative correlation was found between the reconstructed SST and the North Atlantic Subpolar Gyre (SPG) index (p = 0.001, r = −0.50), and a significant positive correlation was found with the East Atlantic Pattern (EAP) index when the reconstructed SST was lagged by 1 year (p = 0.002, r = 0.46). This led to the conclusion that EAP and SPG are major influences on SSTs in the Bay of Brest. As the SPG controls air temperature in Northern Europe and the EAP controls water temperature in Southern Europe, this suggests that the Bay of Brest is an interaction area between these two climate systems. As such, this locality is interesting as the δ18O of the shells can be used as a proxy for both the SPG and EAP, and temperature reconstructions can provide a unique insight into how these climate systems interacted prior to the instrumental era.
    Print ISSN: 0959-6836
    Electronic ISSN: 1477-0911
    Topics: Geography , Geosciences
    Published by Sage
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  • 5
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    Materials, Vol. 5, Pages 1740-1751: Study of Morphological Changes in MgH2 Destabilized LiBH4 Systems Using Computed X-ray Microtomography (2012)
    MDPI Publishing
    In: Materials
    Details
    Publication Date: 2012-09-27
    Description: The objective of this study was to apply three-dimensional x-ray microtomographic imaging to understanding morphologies in the diphasic destabilized hydride system: MgH2 and LiBH4. Each of the single phase hydrides as well as two-phase mixtures at LiBH4:MgH2 ratios of 1:3, 1:1, and 2:1 were prepared by high energy ball milling for 5 minutes (with and without 4 mol % TiCl3 catalyst additions). Samples were imaged using computed microtomography in order to (i) establish measurement conditions leading to maximum absorption contrast between the two phases and (ii) determine interfacial volume. The optimal energy for measurement was determined to be 15 keV (having 18% transmission for the MgH2 phase and above 90% transmission for the LiBH4 phase). This work also focused on the determination of interfacial volume. Results showed that interfacial volume for each of the single phase systems, LiBH4 and MgH2, did not change much with catalysis using 4 mol % TiCl3. However, for the mixed composite system, interphase boundary volume was always higher in the catalyzed system; increasing from 15% to 33% in the 1:3 system, from 11% to 20% in the 1:1 system, and 2% to 14% in the 2:1 system. The parameters studied are expected to govern mass transport (i.e., diffusion) and ultimately lead to microstructure-based improvements on H2 desorption and uptake rates.
    Electronic ISSN: 1996-1944
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Published by MDPI Publishing
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  • 6
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    Analysis of Flame Retardancy in Polymer Blends by Synchrotron X-ray K-edge Tomography and Interferometric Phase Contrast Movies (2016)
    American Chemical Society (ACS)
    Details
    Publication Date: 2016-02-19
    Description: The Journal of Physical Chemistry B DOI: 10.1021/acs.jpcb.5b12775
    Electronic ISSN: 1520-5207
    Topics: Chemistry and Pharmacology , Physics
    Published by American Chemical Society (ACS)
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  • 7
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    Surface changes in the North Atlantic meridional overturning circulation during the last millennium (2012)
    Springer Nature
    Details
    Publication Date: 2012-06-20
    Description: Surface changes in the North Atlantic meridional overturning circulation during the last millennium Nature Communications 3, 899 (2012). doi:10.1038/ncomms1901 Authors: Alan D. Wanamaker, Paul G. Butler, James D. Scourse, Jan Heinemeier, Jón Eiríksson, Karen Luise Knudsen & Christopher A. Richardson
    Electronic ISSN: 2041-1723
    Topics: Biology , Chemistry and Pharmacology , Natural Sciences in General , Physics
    Published by Springer Nature
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  • 8
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    Genes, Vol. 10, Pages 550: Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey (2019)
    MDPI
    In: Genes
    Details
    Publication Date: 2019
    Description: Prader–Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader–Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and death in PWS. A 66-item questionnaire was developed by a panel of PWS medical and scientific experts, with input from Prader–Willi Syndrome Association (USA) leadership, so as to probe their membership on the frequency, risk, and protective factors for venous thromboembolism, pulmonary embolism, and related findings. The characteristics of those with and without a reported history of blood clots and related health factors were tabulated and analyzed. Responses were obtained for 1067 individuals with PWS (554 females and 513 males), and 38 (23 females and 15 males) had a history of blood clots. The individuals with clots did not differ by gender, but were significantly older 32.8 ± 15 years vs 20.4 ± 13 years, and were more likely to have a reported history of obesity (76%), edema (59%), hypertension (24%), vasculitis (33%), and family history of blood clots (33%) than those without clots. Growth hormone treatment was more common in individuals without clots. The risk factors for thromboembolism in PWS overlap those commonly observed for the general population.
    Electronic ISSN: 2073-4425
    Topics: Biology
    Published by MDPI
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  • 9
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    Bigmouth Buffalo Ictiobus cyprinellus sets freshwater teleost record as improved age analysis reveals centenarian longevity (2019)
    Springer Nature
    Details
    Publication Date: 2019
    Electronic ISSN: 2399-3642
    Topics: Biology
    Published by Springer Nature
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  • 10
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    Evolution of pathogenicity and sexual reproduction in eight Candida genomes (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-05-26
    Description: Candida species are the most common cause of opportunistic fungal infection worldwide. Here we report the genome sequences of six Candida species and compare these and related pathogens and non-pathogens. There are significant expansions of cell wall, secreted and transporter gene families in pathogenic species, suggesting adaptations associated with virulence. Large genomic tracts are homozygous in three diploid species, possibly resulting from recent recombination events. Surprisingly, key components of the mating and meiosis pathways are missing from several species. These include major differences at the mating-type loci (MTL); Lodderomyces elongisporus lacks MTL, and components of the a1/2 cell identity determinant were lost in other species, raising questions about how mating and cell types are controlled. Analysis of the CUG leucine-to-serine genetic-code change reveals that 99% of ancestral CUG codons were erased and new ones arose elsewhere. Lastly, we revise the Candida albicans gene catalogue, identifying many new genes.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834264/" 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/PMC2834264/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Butler, Geraldine -- Rasmussen, Matthew D -- Lin, Michael F -- Santos, Manuel A S -- Sakthikumar, Sharadha -- Munro, Carol A -- Rheinbay, Esther -- Grabherr, Manfred -- Forche, Anja -- Reedy, Jennifer L -- Agrafioti, Ino -- Arnaud, Martha B -- Bates, Steven -- Brown, Alistair J P -- Brunke, Sascha -- Costanzo, Maria C -- Fitzpatrick, David A -- de Groot, Piet W J -- Harris, David -- Hoyer, Lois L -- Hube, Bernhard -- Klis, Frans M -- Kodira, Chinnappa -- Lennard, Nicola -- Logue, Mary E -- Martin, Ronny -- Neiman, Aaron M -- Nikolaou, Elissavet -- Quail, Michael A -- Quinn, Janet -- Santos, Maria C -- Schmitzberger, Florian F -- Sherlock, Gavin -- Shah, Prachi -- Silverstein, Kevin A T -- Skrzypek, Marek S -- Soll, David -- Staggs, Rodney -- Stansfield, Ian -- Stumpf, Michael P H -- Sudbery, Peter E -- Srikantha, Thyagarajan -- Zeng, Qiandong -- Berman, Judith -- Berriman, Matthew -- Heitman, Joseph -- Gow, Neil A R -- Lorenz, Michael C -- Birren, Bruce W -- Kellis, Manolis -- Cuomo, Christina A -- BB/F00513X/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- BB/F013566/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- G0400284/Medical Research Council/United Kingdom -- HHSN266200400001C/AO/NIAID NIH HHS/ -- R01 AI050113/AI/NIAID NIH HHS/ -- R01 AI075096/AI/NIAID NIH HHS/ -- R01 DE015873/DE/NIDCR NIH HHS/ -- R01 HG004037/HG/NHGRI NIH HHS/ -- R01 HG004037-02/HG/NHGRI NIH HHS/ -- U54 HG003067/HG/NHGRI NIH HHS/ -- U54 HG003067-06/HG/NHGRI NIH HHS/ -- Wellcome Trust/United Kingdom -- England -- Nature. 2009 Jun 4;459(7247):657-62. doi: 10.1038/nature08064.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉UCD School of Biomolecular and Biomedical Science, Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland. geraldine.butler@ucd.ie〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19465905" target="_blank"〉PubMed〈/a〉
    Keywords: Candida/classification/genetics/*pathogenicity/*physiology ; Codon/genetics ; Conserved Sequence ; Diploidy ; *Evolution, Molecular ; Genes, Fungal/genetics ; Genome, Fungal/*genetics ; Meiosis/genetics ; Polymorphism, Genetic ; Reproduction/*genetics ; Saccharomyces/classification/genetics ; Virulence/genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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