20 research outputs found

    Arxes: retrotransposed genes required for adipogenesis

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    Retrotransposed sequences arise from messenger RNAs (mRNAs) that have been reinserted into genomic DNA by reverse transcription. Usually, these sequences are embedded in dormant regions, collect missense mutations over time and constitute processed, nonfunctional pseudogenes. There are thousands of processed pseudogenes in the mouse and human genome. Here, we report evidence for two paralog genes (termed Arxes1 and Arxes2), which arose by retrotransposition of the signal peptidase Spcs3 followed by a segmental duplication event. They gained a functional promoter that we show to be transactivated by adipogenic transcription factors. We further show that the Arxes mRNAs are highly expressed in adipose tissue and strongly upregulated during adipogenesis in different cell models. Additionally, their expression is elevated by an anti-diabetic agent in vitro and in vivo. Importantly, we provide evidence that the Arxes genes are translated and that the proteins are located in the endoplasmic reticulum. Although the sequence similarity and subcellular location are reminiscent of their parental gene, our data suggest that the Arxes have developed a different function, since their expression is required for adipogenesis, whereas Spcs3 is dispensable. In summary, we report retrotransposed-duplicated genes that evolved from a parental gene to function in a tissue and adipogenesis-specific context

    The Palgrave Handbook of National Parliaments and the European Union

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    The Palgrave Handbook of National Parliaments and the European Union offers a comprehensive picture of the European activities of national parliaments in all the 28 member states of the EU. In the aftermath of the Lisbon Treaty, it questions whether national legislatures do matter in European governance. With contributions from both academics and practitioners, this volume integrates the latest constitutional and legal developments as well as the consequences of the economic crisis in every country in the EU. Special emphasis is also placed on the actual parliamentary practices relating to European affairs. In addition, the volume includes some cross-sectional entries on key issues such as parliamentary administration and inter-parliamentary cooperation. By covering a large number of aspects and cases, this collection provides a unique source for assessing the degree of actual parliamentary and democratic control of the European governance at the domestic level

    The Role of Context for Information Mediation in Digital Libraries

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    Abstract. Mediating between available information objects and individual information needs is a central issue within the functionality of a digital library. In the simplest case this is an information request answered by a search engine based on an analysis of information objects within the digital library’s information collection. However, neither the information access activity nor the information objects within the collection are isolated entities. They are both equipped with a multifaceted context. The invited talk, which is summarized by this paper, analyzes this context and discusses complementing approaches to make such context explicit and to use it for refining the mediation process within digital libraries.

    An Architecture for Recommendation Based Service Mediation,” Semantics of a Networked World

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    Abstract. Resource brokering is a crucial activity in Grid infrastructures and other environments with dynamic resource selection. The mediation between resource requirements and available resources relies on adequate resource description, which becomes a special challenge when the resources are (Grid) services. In addition to the description of service semantics, service quality is another useful selection criteria in effective service mediation. Inspired by the success of community-and usage-pattern-based filtering and recommendation systems for targeted information access, this paper discusses automatic and manual service rating as an option for judging service quality. Such ratings can contribute to targeted service selection and complement the mediation based on service semantics

    Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G > T

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    Background: Whether patients with subclinical cardiomyopathy (CMP) are more prone to experience Takotsubo syndrome (TTS) than patients without CMP, is unknown. We present a patient with TTS as the initial manifestation of a hitherto unrecognized genetic CMP. Method: case report. Results: At age 55 after the unexpected death of her father, a now 61-year-old female had developed precordial pressure. Work-up revealed moderately reduced systolic function, dyskinesia of the interventricular septum, and indications for a TTS. Coronary angiography was normal but ventriculography showed TTS. Cardiac MRI confirmed reduced systolic function and TTS. TTS resolved without treatment and sequelae. At age 57 atrial fibrillation was recorded. After deterioration of systolic function at age 59 dilated CMP was diagnosed. Despite application of levosimendan, sacubitril, valsartan, and ivabradine, complete remission could not be achieved. Upon genetic work-up by means of a gene panel, the heterozygous mutation c.1489G > T (p. E497X) in exon 9 of the titin gene was detected and made responsible for the phenotype. Neurological work-up precluded involvement of the skeletal muscles. The further course was complicated by ventricular arrhythmias, requiring implantation of an implantable cardioverter defibrillator (ICD). Conclusions: previously subclinical CMP may initially manifest as TTS. Since patients with titin CMP are at risk of developing ventricular arrhythmias and thus to experience sudden cardiac death, appropriate anti-arrhythmic therapy needs to be established

    ANNALS OF MATHEMATICS, COMPUTING TELEINFORMATICS, VOL 1, NO 1, 2003, PP 65-70 65 Semantic Web: A Brief Overview and IPSI

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    The Semantic Web is a concept that enables better machine processing of information on the Web, by structuring documents written for the Web in such a way that they become understandable by machines. This can be used for creating more complex applications (intelligent browsers, more advanced Web agents), global databases with data from the Web, reuse of information, etc. Semantic modeling languages like the Resource Description Framework (RDF) and topic maps employ XML syntax to achieve this objective. New tools exploit cross domain vocabularies to automatically extract and relate the meta information in a new context. Web Ontology languages like DAML+OIL extend RDF with richer modeling primitives and provide a technological basis to enable the Semantic Web. In this paper we give a review of the basic ideas and principles of the Semantic wWeb, as well as tools used, and their comparison

    Translation of ERC resuscitation guidelines into clinical practice by emergency physicians

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    PURPOSE Austrian out-of-hospital emergency physicians (OOHEP) undergo mandatory biannual emergency physician refresher courses to maintain their licence. The purpose of this study was to compare different reported emergency skills and knowledge, recommended by the European Resuscitation Council (ERC) guidelines, between OOHEP who work regularly at an out-of-hospital emergency service and those who do not currently work as OOHEP but are licenced. METHODS We obtained data from 854 participants from 19 refresher courses. Demographics, questions about their practice and multiple-choice questions about ALS-knowledge were answered and analysed. We particularly explored the application of therapeutic hypothermia, intraosseous access, pocket guide use and knowledge about the participants' defibrillator in use. A multivariate logistic regression analysed differences between both groups of OOHEP. Age, gender, years of clinical experience, ERC-ALS provider course attendance and the self-reported number of resuscitations were control variables. RESULTS Licenced OOHEP who are currently employed in emergency service are significantly more likely to initiate intraosseous access (OR = 4.013, p < 0.01), they initiate mild-therapeutic hypothermia after successful resuscitation (OR = 2.550, p < 0.01) more often, and knowledge about the used defibrillator was higher (OR = 2.292, p < 0.01). No difference was found for the use of pocket guides.OOHEP who have attended an ERC-ALS provider course since 2005 have initiated more mild therapeutic hypothermia after successful resuscitation (OR = 1.670, p <0.05) as well as participants who resuscitated within the last year (OR = 2.324, p < 0.01), while older OOHEP initiated mild therapeutic hypothermia less often, measured per year of age (OR = 0.913, p <0.01). CONCLUSION Licenced and employed OOHEP implement ERC guidelines better into clinical practice, but more training on life-saving rescue techniques needs to be done to improve knowledge and to raise these rates of application
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