841 research outputs found

    A New 76Ge Double Beta Decay Experiment at LNGS

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    This Letter of Intent has been submitted to the Scientific Committee of the INFN Laboratori Nazionali del Gran Sasso (LNGS) in March 2004. It describes a novel facility at the LNGS to study the double beta decay of 76Ge using an (optionally active) cryogenic fluid shield. The setup will allow to scrutinize with high significance on a short time scale the current evidence for neutrinoless double beta decay of 76Ge using the existing 76Ge diodes from the previous Heidelberg-Moscow and IGEX experiments. An increase in the lifetime limit can be achieved by adding more enriched detectors, remaining thereby background-free up to a few 100 kg-years of exposure.Comment: 67 pages, 19 eps figures, 17 tables, gzipped tar fil

    Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

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    <p>Abstract</p> <p>Background</p> <p>The 3'-untranslated region (3'-UTR) of mRNA contains regulatory elements that are essential for the appropriate expression of many genes. These regulatory elements are involved in the control of nuclear transport, polyadenylation status, subcellular targetting as well as rates of translation and degradation of mRNA. Indeed, 3'-UTR mutations have been associated with disease, but frequently this region is not analyzed. To gain insights into congenital heart disease (CHD), we have been analyzing cardiac-specific transcription factor genes, including <it>GATA4</it>, which encodes a zinc finger transcription factor. Germline mutations in the coding region of <it>GATA4 </it>have been associated with septation defects of the human heart, but mutations are rather rare. Previously, we identified 19 somatically-derived zinc finger mutations in diseased tissues of malformed hearts. We now continued our search in the 609 bp 3'-UTR region of <it>GATA4 </it>to explore further molecular avenues leading to CHD.</p> <p>Methods</p> <p>By direct sequencing, we analyzed the 3'-UTR of <it>GATA4 </it>in DNA isolated from 68 formalin-fixed explanted hearts with complex cardiac malformations encompassing ventricular, atrial, and atrioventricular septal defects. We also analyzed blood samples of 12 patients with CHD and 100 unrelated healthy individuals.</p> <p>Results</p> <p>We identified germline and somatic mutations in the 3'-UTR of <it>GATA4</it>. In the malformed hearts, we found nine frequently occurring sequence alterations and six dbSNPs in the 3'-UTR region of <it>GATA4</it>. Seven of these mutations are predicted to affect RNA folding. We also found further five nonsynonymous mutations in exons 6 and 7 of <it>GATA4</it>. Except for the dbSNPs, analysis of tissue distal to the septation defect failed to detect sequence variations in the same donor, thus suggesting somatic origin and mosaicism of mutations. In a family, we observed c.+119A > T in the 3'-UTR associated with ASD type II.</p> <p>Conclusion</p> <p>Our results suggest that somatic <it>GATA4 </it>mutations in the 3'-UTR may provide an additional molecular rationale for CHD.</p

    Распределение взвешенных частиц в Баренцевом море в конце зимы 2019 г.

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    Arctic summer and winter sea-ice extent is continuously declining as a result of climate change, affecting the hydrography and biogeochemical cycles on the seasonally ice-free Eurasian Shelves. The prolongation of the open-water season causes higher sediment resuspension and coastal erosion due to larger wind fetch and wave heights. This impacts the optical properties of the water column and hence biological productivity in this region. During “Transarktika-2019” leg 1 in late winter 2019, a comprehensive dataset of filtered water samples and optical data was collected throughout the central and northern Barents Sea. Combining suspended particulate matter concentrations obtained from water samples and optical data revealed a pronounced bottom nepheloid layer on the Barents Sea shelf even under ice-covered conditions. Moreover, the data indicate that the Franz Viktoria Trough could be a major pathway for sediment transport into the Eurasian Basin. Therefore, to link changes in sediment distribution and its impact on the ecosystem under a warming climate, further studies of sediment dynamics are required, particularly during winter.Летняя и зимняя площадь ледяного покрова в Арктике постоянно сокращается в результате изменения климата, воздействуя на гидрофизические и биогеохимические циклы на сезонно-безледных шельфах Евразийского бассейна. Возрастание продолжительности периода открытой воды приводит к увеличению образования взвешенного осадка и береговой эрозии в связи с увеличением ветровой нагрузки и высоты волн. Это влияет на оптические свойства водной толщи и, следовательно, на биологическую продуктивность в этом регионе. Во время первого этапа экспедиции «Трансарктика-2019» в конце зимы 2019 г. в центральной и северной частях Баренцева моря был собран обширный объем данных взвешенных частиц из фильтрованной воды и оптических данных. Совместный анализ данных о концентрации взвешенного вещества, полученных из проб воды, и оптических данных показал наличие ярко выраженного донного нефелоидного слоя на шельфе Баренцева моря даже в условиях наличия ледяного покрова. Более того, полученные результаты свидетельствуют о том, что желоб Франц-Виктория может быть основным путем переноса осадочного материала в Евразийский бассейн. Поэтому для того, чтобы связать изменения в распределении осадочных отложений и их влияние на экосистему в условиях потепления климата, необходимы дальнейшие исследования динамики осадочных отложений, особенно в зимний период

    Measurement of the Luminosity in the ZEUS Experiment at HERA II

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    The luminosity in the ZEUS detector was measured using photons from electron bremsstrahlung. In 2001 the HERA collider was upgraded for operation at higher luminosity. At the same time the luminosity-measuring system of the ZEUS experiment was modified to tackle the expected higher photon rate and synchrotron radiation. The existing lead-scintillator calorimeter was equipped with radiation hard scintillator tiles and shielded against synchrotron radiation. In addition, a magnetic spectrometer was installed to measure the luminosity independently using photons converted in the beam-pipe exit window. The redundancy provided a reliable and robust luminosity determination with a systematic uncertainty of 1.7%. The experimental setup, the techniques used for luminosity determination and the estimate of the systematic uncertainty are reported.Comment: 25 pages, 11 figure

    Arene oxidation with malonoyl peroxides

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    Malonoyl peroxide 7, prepared in a single step from the commercially available diacid, is an effective reagent for the oxidation of aromatics. Reaction of an arene with peroxide 7 at room temperature leads to the corresponding protected phenol which can be unmasked by aminolysis. An ionic mechanism consistent with the experimental findings and supported by isotopic labeling, Hammett analysis, EPR investigations and reactivity profile studies is proposed

    Procedure for short-lived particle detection in the OPERA experiment and its application to charm decays

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    The OPERA experiment, designed to perform the first observation of νμντ\nu_\mu \rightarrow \nu_\tau oscillations in appearance mode through the detection of the τ\tau leptons produced in ντ\nu_\tau charged current interactions, has collected data from 2008 to 2012. In the present paper, the procedure developed to detect τ\tau particle decays, occurring over distances of the order of 1 mm from the neutrino interaction point, is described in detail. The results of its application to the search for charmed hadrons are then presented as a validation of the methods for ντ\nu_\tau appearance detection

    Global Effects of Catecholamines on Actinobacillus pleuropneumoniae Gene Expression

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    Bacteria can use mammalian hormones to modulate pathogenic processes that play essential roles in disease development. Actinobacillus pleuropneumoniae is an important porcine respiratory pathogen causing great economic losses in the pig industry globally. Stress is known to contribute to the outcome of A. pleuropneumoniae infection. To test whether A. pleuropneumoniae could respond to stress hormone catecholamines, gene expression profiles after epinephrine (Epi) and norepinephrine (NE) treatment were compared with those from untreated bacteria. The microarray results showed that 158 and 105 genes were differentially expressed in the presence of Epi and NE, respectively. These genes were assigned to various functional categories including many virulence factors. Only 18 genes were regulated by both hormones. These genes included apxIA (the ApxI toxin structural gene), pgaB (involved in biofilm formation), APL_0443 (an autotransporter adhesin) and genes encoding potential hormone receptors such as tyrP2, the ygiY-ygiX (qseC-qseB) operon and narQ-narP (involved in nitrate metabolism). Further investigations demonstrated that cytotoxic activity was enhanced by Epi but repressed by NE in accordance with apxIA gene expression changes. Biofilm formation was not affected by either of the two hormones despite pgaB expression being affected. Adhesion to host cells was induced by NE but not by Epi, suggesting that the hormones affect other putative adhesins in addition to APL_0443. This study revealed that A. pleuropneumoniae gene expression, including those encoding virulence factors, was altered in response to both catecholamines. The differential regulation of A. pleuropneumoniae gene expression by the two hormones suggests that this pathogen may have multiple responsive systems for the two catecholamines
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