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  • Articles  (20)
  • Oxford University Press  (13)
  • Wiley  (6)
  • Blackwell Publishing Ltd
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  • Articles  (20)
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  • 1
    Electronic Resource
    Electronic Resource
    Regulation of Mesolimbic Dopamine Tracts by Cyclo(Leu-GIy) (1988)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 537 (1988), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1988.tb42138.x
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    Paper (German National Licenses)
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  • 2
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    Oxygen isotope composition of evapotranspiration and its relation to C4 photosynthetic discrimination (2011)
    Wiley
    Details
    Publication Date: 2011-03-23
    Description: The oxygen isotope of water (18O-H2O) and carbon dioxide (18O-CO2) is an important signal of global change and can provide constraints on the coupled carbon-water cycle. Here, simultaneous observations of 18O-H2O (liquid and vapor phases) and 18O-CO2 were used to investigate the relation between canopy leaf water 18O enrichment, 18O-CO2 photosynthetic discrimination (18Δ), isotope disequilibrium (Deq), and the biophysical factors that control their temporal variability in a C4 (Zea mays L.) ecosystem. Data and analyses are presented from a 74 day experiment conducted in Minnesota during summer 2009. Eddy covariance observations indicate that the oxygen isotope composition of C4 evapotranspiration (δE) ranged from about −20‰ (VSMOW scale) in the early morning to −5‰ after midday. These values were used to estimate the isotope composition at the sites of leaf water evaporation (δL,e) assuming non-steady-state conditions and revealed a strong diurnal pattern ranging from about −5‰ in the early morning to +10‰ after midday. With the addition of net ecosystem CO2 exchange measurements and carbonic anhydrase (CA) assays, we derived canopy-scale 18Δ. These estimates typically varied from 11.3 to 27.5‰ (VPDB scale) and were shown to vary significantly depending on the steady state or non-steady-state assumptions related to leaf water enrichment. We demonstrate that the impact of turbulence on kinetic fractionation and steady state assumptions result in larger estimates of 18Δ and Deq. Further, the results indicate that both leaf-scale and canopy-scale CO2 hydration efficiency may be substantially lower than that previously reported for laboratory conditions. These results may have important implications for interpreting variations in atmospheric 18O-CO2 and constraining regional carbon budgets based on the oxygen isotope tracer approach.
    Print ISSN: 0148-0227
    Topics: Biology , Geosciences
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 3
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    Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation (2015)
    Oxford University Press
    Details
    Publication Date: 2015-04-04
    Description: The CAG repeat expansion in the Huntington's disease gene HTT extends a polyglutamine tract in mutant huntingtin that enhances its ability to facilitate polycomb repressive complex 2 (PRC2). To gain insight into this dominant gain of function, we mapped histone modifications genome-wide across an isogenic panel of mouse embryonic stem cell (ESC) and neuronal progenitor cell (NPC) lines, comparing the effects of Htt null and different size Htt CAG mutations. We found that Htt is required in ESC for the proper deposition of histone H3K27me3 at a subset of ‘bivalent’ loci but in NPC it is needed at ‘bivalent’ loci for both the proper maintenance and the appropriate removal of this mark. In contrast, Htt CAG size, though changing histone H3K27me3, is prominently associated with altered histone H3K4me3 at ‘active’ loci. The sets of ESC and NPC genes with altered histone marks delineated by the lack of huntingtin or the presence of mutant huntingtin, though distinct, are enriched in similar pathways with apoptosis specifically highlighted for the CAG mutation. Thus, the manner by which huntingtin function facilitates PRC2 may afford mutant huntingtin with multiple opportunities to impinge upon the broader machinery that orchestrates developmentally appropriate chromatin status.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 4
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    Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy (2013)
    Oxford University Press
    Details
    Publication Date: 2013-07-26
    Description: In Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor symptoms. However, correlation of cellular biochemical parameters also extends across the normal repeat range, supporting the view that the CAG repeat represents a functional polymorphism with dominant effects determined by the longer allele. A central challenge to defining the functional consequences of this single polymorphism is the difficulty of distinguishing its subtle effects from the multitude of other sources of biological variation. We demonstrate that an analytical approach based upon continuous correlation with CAG size was able to capture the modest (~21%) contribution of the repeat to the variation in genome-wide gene expression in 107 lymphoblastoid cell lines, with alleles ranging from 15 to 92 CAGs. Furthermore, a mathematical model from an iterative strategy yielded predicted CAG repeat lengths that were significantly positively correlated with true CAG allele size and negatively correlated with age at onset of motor symptoms. Genes negatively correlated with repeat size were also enriched in a set of genes whose expression were CAG-correlated in human HD cerebellum. These findings both reveal the relatively small, but detectable impact of variation in the CAG allele in global data in these peripheral cells and provide a strategy for building multi-dimensional data-driven models of the biological network that drives the HD disease process by continuous analysis across allelic panels of neuronal cells vulnerable to the dominant effects of the HTT CAG repeat.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 5
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    Reconciling the differences between top-down and bottom-up estimates of nitrous oxide emissions for the US Corn Belt (2013)
    Wiley
    Details
    Publication Date: 2013-07-16
    Description: [1]  Nitrous oxide (N 2 O) is a greenhouse gas with a large global warming potential and is a major cause of stratospheric ozone depletion. Croplands are the dominant source of N 2 O, but mitigation strategies have been limited by the large uncertainties in both direct and indirect emission factors (EFs) implemented in “bottom-up” emission inventories. The Intergovernmental Panel on Climate Change (IPCC) recommends EFs ranging from 0.75 to 2% of the anthropogenic nitrogen (N) input for the various N 2 O pathways in croplands. Consideration of the global N budget yields a much higher EF ranging between 3.8 and 5.1% of the anthropogenic N input. Here, we use two years of hourly high-precision N 2 O concentration measurements on a very tall tower to evaluate the IPCC bottom-up and global “top-down” EFs for a large representative subsection of the United States Corn Belt, a vast region spanning the US Midwest that is dominated by intensive N inputs to support corn cultivation. Scaling up these results indicates that agricultural sources in the Corn Belt released 420 ± 50 Gg N (mean ± 1 standard deviation; 1 Gg = 10 9 g) in 2010, in close agreement with the top-down estimate of 350 ± 50 Gg N and 80% larger than the bottom-up estimate based on the IPCC EFs (230 ± 180 Gg N). The large difference between the tall-tower measurement and the bottom-up estimate implies the existence of N 2 O emission hot spots ormissing sources within the landscape that are not fully accounted for in the IPCC and other bottom-up emission inventories. Reconciling these differences is an important step toward developing a practical mitigation strategy for N 2 O.
    Print ISSN: 0886-6236
    Electronic ISSN: 1944-9224
    Topics: Biology , Chemistry and Pharmacology , Geography , Geosciences , Physics
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 6
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    The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency (2012)
    Oxford University Press
    Details
    Publication Date: 2012-12-20
    Description: The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/ ) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information’s databases and presented on the web and through FTP ( ftp.ncbi.nih.gov/pub/GTR/_README.html ).
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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  • 7
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    Constraining the atmosphere of GJ 1214b using an optimal estimation technique (2013)
    Oxford University Press
    Details
    Publication Date: 2013-08-22
    Description: We explore cloudy, extended H 2 –He atmosphere scenarios for the warm super-Earth GJ 1214b using an optimal estimation retrieval technique. This planet, orbiting an M4.5 star only 13 pc from the Earth, is of particular interest because it lies between the Earth and Neptune in size and may be a member of a new class of planet that is neither terrestrial nor gas giant. Its relatively flat transmission spectrum has so far made atmospheric characterization difficult. The Non-linear optimal Estimator for MultivariateE spectral analySIS (NEMESIS) algorithm is used to explore the degenerate model parameter space for a cloudy, H 2 –He-dominated atmosphere scenario. Optimal estimation is a data-led approach that allows solutions beyond the range permitted by ab initio equilibrium model atmosphere calculations, and as such prevents restriction from prior expectations. We show that optimal estimation retrieval is a powerful tool for this kind of study, and present an exploration of the degenerate atmospheric scenarios for GJ 1214b. Whilst we find a family of solutions that provide a very good fit to the data, the quality and coverage of these data are insufficient for us to more precisely determine the abundances of cloud and trace gases given an H 2 –He atmosphere, and we also cannot rule out the possibility of a high molecular weight atmosphere. Future ground- and space-based observations will provide the opportunity to confirm or rule out an extended H 2 –He atmosphere, but more precise constraints will be limited by intrinsic degeneracies in the retrieval problem, such as variations in cloud top pressure and temperature.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
    Published by Oxford University Press
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  • 8
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    On the potential of the EChO mission to characterize gas giant atmospheres (2013)
    Oxford University Press
    Details
    Publication Date: 2013-03-02
    Description: Space telescopes such as Exoplanet Characterisation Observatory (EChO) and James Webb Space Telescope (JWST) will be important for the future study of extrasolar planet atmospheres. Both of these missions are capable of performing high sensitivity spectroscopic measurements at moderate resolutions in the visible and infrared, which will allow the characterization of atmospheric properties using primary and secondary transit spectroscopy. We use the Non-linear optimal Estimator for MultivariateE spectral analysis (NEMESIS) radiative transfer and retrieval tool, as developed by Irwin et al. and Lee et al., to explore the potential of the proposed EChO mission to solve the retrieval problem for a range of H 2 –He planets orbiting different stars. We find that EChO should be capable of retrieving temperature structure to ~200 K precision and detecting H 2 O, CO 2 and CH 4 from a single eclipse measurement for a hot Jupiter orbiting a Sun-like star and a hot Neptune orbiting an M star, also providing upper limits on CO and NH 3 . We provide a table of retrieval precisions for these quantities in each test case. We expect around 30 Jupiter-sized planets to be observable by EChO ; hot Neptunes orbiting M dwarfs are rarer, but we anticipate observations of at least one similar planet.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
    Published by Oxford University Press
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  • 9
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    ClinVar: public archive of relationships among sequence variation and human phenotype (2013)
    Oxford University Press
    Details
    Publication Date: 2013-12-29
    Description: ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/ ) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on the phenotypic descriptions maintained in MedGen ( http://www.ncbi.nlm.nih.gov/medgen ). Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, in which case a new version is assigned. To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. Data from ClinVar are provided as annotation tracks on genomic RefSeqs and are used in tools such as Variation Reporter ( http://www.ncbi.nlm.nih.gov/variation/tools/reporter ), which reports what is known about variation based on user-supplied locations.
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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  • 10
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    ClinVar: public archive of interpretations of clinically relevant variants (2016)
    Oxford University Press
    Details
    Publication Date: 2016-01-07
    Description: ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar/ ) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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