79 research outputs found

    Genome-Wide Association Study of Copy Number Variants Suggests LTBP1 and FGD4 Are Important for Alcohol Drinking

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    Alcohol dependence (AD) is a complex disorder characterized by psychiatric and physiological dependence on alcohol. AD is reflected by regular alcohol drinking, which is highly inheritable. In this study, to identify susceptibility genes associated with alcohol drinking, we performed a genome-wide association study of copy number variants (CNVs) in 2,286 Caucasian subjects with Affymetrix SNP6.0 genotyping array. We replicated our findings in 1,627 Chinese subjects with the same genotyping array. We identified two CNVs, CNV207 (combined p-value 1.91E-03) and CNV1836 (combined p-value 3.05E-03) that were associated with alcohol drinking. CNV207 and CNV1836 are located at the downstream of genes LTBP1 (870 kb) and FGD4 (400 kb), respectively. LTBP1, by interacting TGFB1, may down-regulate enzymes directly participating in alcohol metabolism. FGD4 plays a role in clustering and trafficking GABAA receptor and subsequently influence alcohol drinking through activating CDC42. Our results provide suggestive evidence that the newly identified CNV regions and relevant genes may contribute to the genetic mechanism of alcohol dependence

    Mucin Biopolymers As Broad-Spectrum Antiviral Agents

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    Mucus is a porous biopolymer matrix that coats all wet epithelia in the human body and serves as the first line of defense against many pathogenic bacteria and viruses. However, under certain conditions viruses are able to penetrate this infection barrier, which compromises the protective function of native mucus. Here, we find that isolated porcine gastric mucin polymers, key structural components of native mucus, can protect an underlying cell layer from infection by small viruses such as human papillomavirus (HPV), Merkel cell polyomavirus (MCV), or a strain of influenza A virus. Single particle analysis of virus mobility inside the mucin barrier reveals that this shielding effect is in part based on a retardation of virus diffusion inside the biopolymer matrix. Our findings suggest that purified mucins may be used as a broad-range antiviral supplement to personal hygiene products, baby formula or lubricants to support our immune system.National Institutes of Health (U.S.) (grant P30-ES002109)National Institutes of Health (U.S.) (grant P50-GM068763)German Academic Exchange Service (Postdoctoral fellowship

    Speciation analysis of iodine and bromine at picogram-per-gram levels in polar ice

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    Iodine and bromine species participate in key atmospheric reactions including the formation of cloud con- densation nuclei and ozone depletion. We present a novel method coupling a high-performance liquid chromatogra- phy with ion chromatography and inductively coupled plas- ma mass spectrometry, which allows the determination of iodine (I) and bromine (Br) species (IO3−, I−, Br−, BrO3−) at the picogram-per-gram levels presents in Antarctic ice. Chromatographic separation was achieved using an ION- PAC® AS16 Analytical Column with NaOH as eluent. Detection limits for I and Br species were 5 to 9 pg g−1 with an uncertainty of less than 2.5% for all considered species. Inorganic iodine and bromine species have been determined in Antarctic ice core samples, with concentrations close to the detection limits for iodine species, and approximately 150 pg g−1 for Br−. Although iodate (IO3−) is the most abundant iodine species in the atmosphere, only the much rarer iodide (I−) species was present in Antarctic Holocene ice. Bromine was found to be present in Antarctic ice as Br−

    Data Descriptor: An open resource for transdiagnostic research in pediatric mental health and learning disorders

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    Technological and methodological innovations are equipping researchers with unprecedented capabilities for detecting and characterizing pathologic processes in the developing human brain. As a result, ambitions to achieve clinically useful tools to assist in the diagnosis and management of mental health and learning disorders are gaining momentum. To this end, it is critical to accrue large-scale multimodal datasets that capture a broad range of commonly encountered clinical psychopathology. The Child Mind Institute has launched the Healthy Brain Network (HBN), an ongoing initiative focused on creating and sharing a biobank of data from 10,000 New York area participants (ages 5–21). The HBN Biobank houses data about psychiatric, behavioral, cognitive, and lifestyle phenotypes, as well as multimodal brain imaging (resting and naturalistic viewing fMRI, diffusion MRI, morphometric MRI), electroencephalography, eyetracking, voice and video recordings, genetics and actigraphy. Here, we present the rationale, design and implementation of HBN protocols. We describe the first data release (n =664) and the potential of the biobank to advance related areas (e.g., biophysical modeling, voice analysis

    Conodonts and ostracodes from the late Tournaisian bathyal sequence of the Polar Urals

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    Early Carboniferous (late Tournaisian) conodonts, recovered from siliceous shales and silicites of the Nyan-Vorga Formation within the Lemva tectonic belt of the Polar Urals (Russia), include the biostratigraphically important taxa Siphonodella lanei, Gnathodus typicus, Dollymae hassi, and Scaliognathus anchoralis, marking the following conodont zones of the upper Tournaisian: crenulata, typicus, and anchoralis. Associated species include representatives of genera Siphonodella, Polygnathus, Pseudopolygnathus, Dollymae, Gnathodus, Kladognathus, and Idioprioniodus. These conodont faunas provide the first biostratigraphically constrained correlations between bathyal deposits of the Lemva Allochthone in the Polar Urals and the “standard” conodont zonation. Ostracodes found in the silicite of the typicus Zone are represented by Sagittibythere ? sp. and Tricornina (Bohemia) sp. The ostracodes are reported from the bathyal deposits of Urals for a first time. The traces of the global Mid-Aikuanian Event are recognized in the upper part of the Tournaisian bathyal succession. This event led to turnover in conodont associations and is followed by increasing in conodont diversity
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