33 research outputs found

    The genetic architecture of the human cerebral cortex

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    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

    Tree species diversity and utilities in a contracting lowland hillside rainforest fragment in Central Vietnam

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    Abstract Background Within the highly bio-diverse ‘Northern Vietnam Lowland Rain Forests Ecoregion’ only small, and mostly highly modified forestlands persist within vast exotic-species plantations. The aim of this study was to elucidate vegetation patterns of a secondary hillside rainforest remnant (elevation 120–330 m, 76 ha) as an outcome of natural processes, and anthropogenic processes linked to changing forest values. Methods In the rainforest remnant tree species and various bio-physical parameters (relating to soils and terrain) were surveyed on forty 20 m × 20 m sized plots. The forest's vegetation patterns and tree diversity were analysed using dendrograms, canonical correspondence analysis, and other statistical tools. Results Forest tree species richness was high (172 in the survey, 94 per hectare), including many endemic species (>16%; some recently described). Vegetation patterns and diversity were largely explained by topography, with colline/sub-montane species present mainly along hillside ridges, and lowland/humid-tropical species predominant on lower slopes. Scarcity of high-value timber species reflected past logging, whereas abundance of light-demanding species, and species valued for fruits, provided evidence of human-aided forest restoration and ‘enrichment’ in terms of useful trees. Exhaustion of sought-after forest products, and decreasing appreciation of non-wood products concurred with further encroachment of exotic plantations in between 2010 and 2015. Regeneration of rare tree species was reduced probably due to forest isolation. Conclusions Despite long-term anthropogenic influences, remnant forests in the lowlands of Vietnam can harbor high plant biodiversity, including many endangered species. Various successive future changes (vanishing species, generalist dominance, and associated forest structural-qualitative changes) are, however, expected to occur in small forest fragments. Lowland forest biodiversity can only be maintained if forest fragments maintain a certain size and/or are connected via corridors to larger forest networks. Preservation of the forests may be fostered using new economic incentive schemes

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Characteristics of Adults in the Hepatitis B Research Network in North America Reflect Their Country of Origin and Hepatitis B Virus Genotype

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    Chronic hepatitis B virus (HBV) infection is an important cause of cirrhosis and hepatocellular carcinoma worldwide; populations that migrate to the US and Canada might be disproportionately affected. The Hepatitis B Research Network (HBRN) is a cooperative network of investigators from the United States and Canada, created to facilitate clinical, therapeutic, and translational research in adults and children with hepatitis B. We describe the structure of the network and baseline characteristics of adults with hepatitis B enrolled in the network

    Practical guidelines for rigor and reproducibility in preclinical and clinical studies on cardioprotection

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    The potential for ischemic preconditioning to reduce infarct size was first recognized more than 30 years ago. Despite extension of the concept to ischemic postconditioning and remote ischemic conditioning and literally thousands of experimental studies in various species and models which identified a multitude of signaling steps, so far there is only a single and very recent study, which has unequivocally translated cardioprotection to improved clinical outcome as the primary endpoint in patients. Many potential reasons for this disappointing lack of clinical translation of cardioprotection have been proposed, including lack of rigor and reproducibility in preclinical studies, and poor design and conduct of clinical trials. There is, however, universal agreement that robust preclinical data are a mandatory prerequisite to initiate a meaningful clinical trial. In this context, it is disconcerting that the CAESAR consortium (Consortium for preclinicAl assESsment of cARdioprotective therapies) in a highly standardized multi-center approach of preclinical studies identified only ischemic preconditioning, but not nitrite or sildenafil, when given as adjunct to reperfusion, to reduce infarct size. However, ischemic preconditioning—due to its very nature—can only be used in elective interventions, and not in acute myocardial infarction. Therefore, better strategies to identify robust and reproducible strategies of cardioprotection, which can subsequently be tested in clinical trials must be developed. We refer to the recent guidelines for experimental models of myocardial ischemia and infarction, and aim to provide now practical guidelines to ensure rigor and reproducibility in preclinical and clinical studies on cardioprotection. In line with the above guideline, we define rigor as standardized state-of-the-art design, conduct and reporting of a study, which is then a prerequisite for reproducibility, i.e. replication of results by another laboratory when performing exactly the same experiment
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