1,602 research outputs found

    Comparative cytogenetic analysis between Lonchorhina aurita and Trachops cirrhosus (Chiroptera, Phyllostomidae)

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    Phyllostomidae comprises the most diverse family of neotropical bats, its wide range of morphological features leading to uncertainty regarding phylogenetic relationships. Seeing that cytogenetics is one of the fields capable of providing support for currently adopted classifications through the use of several markers, a comparative analysis between two Phyllostomidae species was undertaken in the present study, with a view to supplying datasets for the further establishment of Phyllostomidae evolutionary relationships. Karyotypes of Lonchorhina aurita (2n = 32; FN = 60) and Trachops cirrhosus (2n = 30; FN = 56) were analyzed by G- and C-banding, silver nitrate staining (Ag-NOR) and base-specific fluorochromes. Chromosomal data obtained for both species are in agreement with those previously described, except for X chromosome morphology in T. cirrhosus, hence indicating chromosomal geographical variation in this species. A comparison of G-banding permitted the identification of homeologies in nearly all the chromosomes. Furthermore, C-banding and Ag-NOR patterns were comparable to what has already been observed in the family. In both species CMA3 /DA/DAPI staining revealed an R-banding-like pattern with CMA 3 , whereas DAPI showed uniform staining in all the chromosomes. Fluorochrome staining patterns for pericentromeric constitutive heterochromatin (CH) regions, as well as for nucleolar organizing regions (NORs), indicated heterogeneity regarding these sequences among Phyllostomidae species

    Genetic aetiologies for childhood speech disorder: Novel pathways co-expressed during brain development

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    Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials

    Values and Ethics of Global Civil Society Actors: Insights from a Survey and Content Analyses

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    This is an author-produced PDF of an article accepted for publication following peer review. The publisher version is available on its site.This study examines values, ethics, and principles of conduct that underlie activities of global civil society organizations. It uses an international web-based survey, and a content analysis of the codes of conduct for exploring views of global civil society actors active on global issues and participating in global civil society events. The findings of this analysis highlight many similarities in the ways global civil society organizations of different forms and origins define their goals, values, ethical standards, and responsibilities. The normative consensus discerned in this research is limited in scope, however. It revolves around a particular, liberal, view of civil society. The study discusses results of the survey and content analyses in light of the current debates on the nature of global civil society and its relation to the system of states and the global market

    Virtual Compton Scattering and the Generalized Polarizabilities of the Proton at Q^2=0.92 and 1.76 GeV^2

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    Virtual Compton Scattering (VCS) on the proton has been studied at Jefferson Lab using the exclusive photon electroproduction reaction (e p --> e p gamma). This paper gives a detailed account of the analysis which has led to the determination of the structure functions P_LL-P_TT/epsilon and P_LT, and the electric and magnetic generalized polarizabilities (GPs) alpha_E(Q^2) and beta_M(Q^2) at values of the four-momentum transfer squared Q^2= 0.92 and 1.76 GeV^2. These data, together with the results of VCS experiments at lower momenta, help building a coherent picture of the electric and magnetic GPs of the proton over the full measured Q^2-range, and point to their non-trivial behavior.Comment: version 2: modified according to PRC Editor's and Referee's recommendations. Archival paper for the E93-050 experiment at JLab Hall A. 28 pages, 23 figures, 5 cross-section tables. To be submitted to Phys.Rev.

    The reaction dynamics of the 16O(e,e'p) cross section at high missing energies

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    We measured the cross section and response functions (R_L, R_T, and R_LT) for the 16O(e,e'p) reaction in quasielastic kinematics for missing energies 25 <= E_miss <= 120 MeV at various missing momenta P_miss <= 340 MeV/c. For 25 < E_miss < 50 MeV and P_miss \approx 60 MeV/c, the reaction is dominated by single-nucleon knockout from the 1s1/2-state. At larger P_miss, the single-particle aspects are increasingly masked by more complicated processes. For E_miss > 60 MeV and P_miss > 200 MeV/c, the cross section is relatively constant. Calculations which include contributions from pion exchange currents, isobar currents and short-range correlations account for the shape and the transversity but only for half of the magnitude of the measured cross section.Comment: 6 pages, 4 figures, submitted to Phys Rev Lett, formatting error fixe

    The ratio of proton's electric to magnetic form factors measured by polarization transfer

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    The ratio of the proton's elastic electromagnetic form factors was obtained by measuring the transverse and longitudinal polarizations of recoiling protons from the elastic scattering of polarized electrons with unpolarized protons. The ratio of the electric to magnetic form factor is proportional to the ratio of the transverse to longitudinal recoil polarizations. The ratio was measured over a range of four-momentum transfer squared between 0.5 and 3.5 GeV-squared. Simultaneous measurement of transverse and longitudinal polarizations in a polarimeter provides good control of the systematic uncertainty. The results for the ratio of the proton's electric to magnetic form factors show a systematic decrease with increasing four momentum squared, indicating for the first time a marked difference in the spatial distribution of charge and magnetization currents in the proton.Comment: 5 pages, 2 figures, version of paper after corrections due to referees comments and shortened by removing one figure for Physical Review Letter

    Backward electroproduction of pi0 mesons on protons in the region of nucleon resonances at four momentum transfer squared Q**2 = 1.0 GeV**2

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    Exclusive electroproduction of pi0 mesons on protons in the backward hemisphere has been studied at Q**2 = 1.0 GeV**2 by detecting protons in the forward direction in coincidence with scattered electrons from the 4 GeV electron beam in Jefferson Lab's Hall A. The data span the range of the total (gamma* p) center-of-mass energy W from the pion production threshold to W = 2.0 GeV. The differential cross sections sigma_T+epsilon*sigma_L, sigma_TL, and sigma_TT were separated from the azimuthal distribution and are presented together with the MAID and SAID parametrizations.Comment: 17 pages, 11 figures, information can be found at http://hallaweb.jlab.org/experiment/E93-050/vcs.html updated content about SAID analysis updated MAID results following new reference nucl-th/0310041 updated figure

    Ovine pedomics : the first study of the ovine foot 16S rRNA-based microbiome

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    We report the first study of the bacterial microbiome of ovine interdigital skin based on 16S rRNA by pyrosequencing and conventional cloning with Sanger-sequencing. Three flocks were selected, one a flock with no signs of footrot or interdigital dermatitis, a second flock with interdigital dermatitis alone and a third flock with both interdigital dermatitis and footrot. The sheep were classified as having either healthy interdigital skin (H), interdigital dermatitis (ID) or virulent footrot (VFR). The ovine interdigital skin bacterial community varied significantly by flock and clinical condition. The diversity and richness of operational taxonomic units was greater in tissue from sheep with ID than H or VFR affected sheep. Actinobacteria, Bacteriodetes, Firmicutes and Proteobacteria were the most abundant phyla comprising 25 genera. Peptostreptococcus, Corynebacterium and Staphylococcus were associated with H, ID and VFR respectively. Sequences of Dichelobacter nodosus, the causal agent of ovine footrot, were not amplified due to mismatches in the 16S rRNA universal forward primer (27F). A specific real time PCR assay was used to demonstrate the presence of D. nodosus which was detected in all samples including the flock with no signs of ID or VFR. Sheep with ID had significantly higher numbers of D. nodosus (104-109 cells/g tissue) than those with H or VFR feet
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