| 1. |
- Peterlongo, Paolo, et al.
(author)
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- 2015
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5345-5355
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Journal article (peer-reviewed)abstract
- Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
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| 2. |
- Abdellaoui, G., et al.
(author)
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Cosmic ray oriented performance studies for the JEM-EUSO first level trigger
- 2017
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In: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier. - 0168-9002 .- 1872-9576. ; , s. 150-163
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Journal article (peer-reviewed)abstract
- JEM-EUSO is a space mission designed to investigate Ultra-High Energy Cosmic Rays and Neutrinos (E > 5.10(19) eV) from the International Space Station (ISS). Looking down from above its wide angle telescope is able to observe their air showers and collect such data from a very wide area. Highly specific trigger algorithms are needed to drastically reduce the data load in the presence of both atmospheric and human activity related background light, yet retain the rare cosmic ray events recorded in the telescope. We report the performance in offline testing of the first level trigger algorithm on data from JEM-EUSO prototypes and laboratory measurements observing different light sources: data taken during a high altitude balloon flight over Canada, laser pulses observed from the ground traversing the real atmosphere, and model landscapes reproducing realistic aspect ratios and light conditions as would be seen from the ISS itself. The first level trigger logic successfully kept the trigger rate within the permissible bounds when challenged with artificially produced as well as naturally encountered night sky background fluctuations and while retaining events with general air-shower characteristics.
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| 3. |
- Abdellaoui, G., et al.
(author)
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First observations of speed of light tracks by a fluorescence detector looking down on the atmosphere
- 2018
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In: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 13
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Journal article (peer-reviewed)abstract
- EUSO-Balloon is a pathfinder mission for the Extreme Universe Space Observatory onboard the Japanese Experiment Module (JEM-EUSO). It was launched on the moonless night of the 25(th) of August 2014 from Timmins, Canada. The flight ended successfully after maintaining the target altitude of 38 km for five hours. One part of the mission was a 2.5 hour underflight using a helicopter equipped with three UV light sources (LED, xenon flasher and laser) to perform an inflight calibration and examine the detectors capability to measure tracks moving at the speed of light. We describe the helicopter laser system and details of the underflight as well as how the laser tracks were recorded and found in the data. These are the first recorded laser tracks measured from a fluorescence detector looking down on the atmosphere. Finally, we present a first reconstruction of the direction of the laser tracks relative to the detector.
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| 4. |
- Abdellaoui, G., et al.
(author)
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Meteor studies in the framework of the JEM-EUSO program
- 2017
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In: Planetary and Space Science. - : Elsevier. - 0032-0633 .- 1873-5088. ; 143, s. 245-255
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Journal article (peer-reviewed)abstract
- We summarize the state of the art of a program of UV observations from space of meteor phenomena, a secondary objective of the JEM-EUSO international collaboration. Our preliminary analysis indicates that JEM-EUSO, taking advantage of its large FOV and good sensitivity, should be able to detect meteors down to absolute magnitude close to 7. This means that JEM-EUSO should be able to record a statistically significant flux of meteors, including both sporadic ones, and events produced by different meteor streams. Being unaffected by adverse weather conditions, JEM-EUSO can also be a very important facility for the detection of bright meteors and fireballs, as these events can be detected even in conditions of very high sky background. In the case of bright events, moreover, exhibiting some persistence of the meteor train, preliminary simulations show that it should be possible to exploit the motion of the ISS itself and derive at least a rough 3D reconstruction of the meteor trajectory. Moreover, the observing strategy developed to detect meteors may also be applied to the detection of nuclearites, exotic particles whose existence has been suggested by some theoretical investigations. Nuclearites are expected to move at higher velocities than meteoroids, and to exhibit a wider range of possible trajectories, including particles moving upward after crossing the Earth. Some pilot studies, including the approved Mini-EUSO mission, a precursor of JEM-EUSO, are currently operational or in preparation. We are doing simulations to assess the performance of Mini-EUSO for meteor studies, while a few meteor events have been already detected using the ground-based facility EUSO-TA.
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| 5. |
- Abdellaoui, G., et al.
(author)
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Ultra-violet imaging of the night-time earth by EUSO-Balloon towards space-based ultra-high energy cosmic ray observations
- 2019
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In: Astroparticle physics. - : Elsevier. - 0927-6505 .- 1873-2852. ; 111, s. 54-71
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Journal article (peer-reviewed)abstract
- The JEM-EUSO (Joint Experiment Missions for the Extreme Universe Space Observatory) program aims at developing Ultra-Violet (UV) fluorescence telescopes for efficient detections of Extensive Air Showers (EASs) induced by Ultra-High Energy Cosmic Rays (UHECRs) from satellite orbit. In order to demonstrate key technologies for JEM-EUSO, we constructed the EUSO-Balloon instrument that consists of a similar to 1 m(2) refractive telescope with two Fresnel lenses and an array of multi-anode photo-multiplier tubes at the focus. Distinguishing it from the former balloon-borne experiments, EUSO-Balloon has the capabilities of single photon counting with a gate time of 2.3 mu s and of imaging with a total of 2304 pixels. As a pathfinder mission, the instrument was launched for an 8 h stratospheric flight on a moonless night in August 2014 over Timmins, Canada. In this work, we analyze the count rates over similar to 2.5 h intervals. The measurements are of diffuse light, e.g. of airglow emission, back-scattered from the Earth's atmosphere as well as artificial light sources. Count rates from such diffuse light are a background for EAS detections in future missions and relevant factor for the analysis of EAS events. We also obtain the geographical distribution of the count rates over a similar to 780 km(2) area along the balloon trajectory. In developed areas, light sources such as the airport, mines, and factories are clearly identified. This demonstrates the correct location of signals that will be required for the EAS analysis in future missions. Although a precise determination of count rates is relevant for the existing instruments, the absolute intensity of diffuse light is deduced for the limited conditions by assuming spectra models and considering simulations of the instrument response. Based on the study of diffuse light by EUSO-Balloon, we also discuss the implications for coming pathfinders and future space-based UHECR observation missions.
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| 6. |
- Bacholle, S., et al.
(author)
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Mini-EUSO Mission to Study Earth UV Emissions on board the ISS
- 2021
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In: Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 253:2
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Journal article (peer-reviewed)abstract
- Mini-EUSO is a telescope observing the Earth in the ultraviolet band from the International Space Station. It is a part of the JEM-EUSO program, paving the way to future larger missions, such as K-EUSO and POEMMA, devoted primarily to the observation of ultrahigh-energy cosmic rays from space. Mini-EUSO is capable of observing extensive air showers generated by ultrahigh-energy cosmic rays with an energy above 10(21) eV and to detect artificial showers generated with lasers from the ground. Other main scientific objectives of the mission are the search for nuclearites and strange quark matter, the study of atmospheric phenomena such as transient luminous events, meteors, and meteoroids, the observation of sea bioluminescence and of artificial satellites and man-made space debris. Mini-EUSO will map the nighttime Earth in the UV range (290-430 nm), with a spatial resolution of about 6.3 km and a temporal resolution of 2.5 mu s, through a nadir-facing UV-transparent window in the Russian Zvezda module. The instrument, launched on 2019 August 22, from the Baikonur Cosmodrome, is based on an optical system employing two Fresnel lenses and a focal surface composed of 36 multianode photomultiplier tubes, 64 channels each, for a total of 2304 channels with single-photon counting sensitivity and an overall field of view of 44 degrees. Mini-EUSO also contains two ancillary cameras to complement measurements in the near-infrared and visible ranges. In this paper, we describe the detector and present the various phenomena observed in the first months of operations.
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| 7. |
- Diesing, R., et al.
(author)
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UCIRC2: EUSO-SPB2’s Infrared Cloud Monitor
- 2022
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In: 37th International Cosmic Ray Conference, ICRC 2021. - : Sissa Medialab Srl.
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Conference paper (peer-reviewed)abstract
- The second generation of the Extreme Universe Space Observatory on a Super Pressure Balloon (EUSO-SPB2) is a balloon instrument for the detection of ultra high energy cosmic rays (UHECRs) with energies above 1 EeV and very high energy neutrinos with energies above 10 PeV. EUSOSPB2 consists of two telescopes: a fluorescence telescope pointed downward for the detection of UHECRs and a Cherenkov telescope pointed towards the limb for the detection of tau lepton-induced showers produced by up-going tau neutrinos and background signals below the limb. Clouds inside the field of view of these telescopes reduce EUSO-SPB2’s geometric aperture, in particular that of the fluorescence telescope. For this reason, cloud coverage and cloud-top altitude within the field of view of the fluorescence telescope must be monitored throughout data-taking. The University of Chicago Infrared Camera (UCIRC2) will monitor these clouds using two infrared cameras with response centered at wavelengths 10 and 12 microns. By capturing images at wavelengths spanning the cloud thermal emission peak, UCIRC2 will measure cloud color-temperatures and thus cloud-top altitudes. In this contribution, we provide an overview of UCIRC2, including an update on its construction and a discussion of the techniques used to calibrate the instrument.
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| 8. |
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District data management, modelling and visualization via interoperability
- 2017
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Editorial proceedings (peer-reviewed)abstract
- Data management has been one of the most interesting research fields within the smart city framework over the last years, with the aim of optimizing energy saving at district level. This topic involves the creation of a 3D city model considering heterogeneous datasets, such as Building Information Models (BIMs), Geographical Information Systems (GISs) and System Information Models (SIMs), taking into account both buildings and the energy network. Through the creation of a common platform, the data sharing was allowed starting from the needs of the users, such as the public administrator, the building manager and the energy professional. For this reason, the development of a District Information Modelling (DIM) methodology for the data management, related to the energy saving and CO2 emission, is considered the focus of this paper. It also presents a specific tool developed for the comparison of energy data in a selected district: the Benchmarking Tool.
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| 9. |
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| 10. |
- Marcelli, L., et al.
(author)
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The Mini-EUSO telescope on board the International Space Station : Launch and first observations
- 2021
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In: NUOVO CIMENTO C-COLLOQUIA AND COMMUNICATIONS IN PHYSICS. - : SOC ITALIANA FISICA. - 2037-4909. ; 44:2-3
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Journal article (peer-reviewed)abstract
- Mini-EUSO is a telescope that observes the Earth from the International Space Station by recording ultraviolet emissions (290-430 nm) of cosmic, atmospheric and terrestrial origin with a field of view of 44. and on different time scales, from a few microseconds upwards. The scientific objectives are manifold and span several fields of research: Ultra-High Energy Cosmic Rays, atmospheric phenomena such as ELVEs, meteors and meteoroids, maps of the Earth night-time ultraviolet emissions and others. In this paper we will describe the instrument, the launching phase and we will discuss some of its first observations.
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