Search results for "7p"
showing 10 items of 16 documents
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
2016
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…
Komētas 67P/Churyumov-Gerasimenko zemas kohēzijas daļiņu elektrostatiskā fragmentācija
2015
Pēc desmit ceļā pavadītiem gadiem un 2.5 gadiem pavadītiem hibernācijas periodā, Eiropas kosmosa aģentūras (angļu: European Space Agency, ESA) izpētes misija Rosetta uz komētu 67P/Churyumov-Gerasimenko ir pilnā datu ieguves režīmā, ar visiem tās 22 zinātniskajiem instrumentiem darbībā, lai izprastu mūsu Saules Sistēmas pirmsākumus. Komētas fizikālais raksturojums parāda, ka tās aptuvenais vidējais blīvums ir ~470 kg/m3 ar relatīvi mīkstu dabu un porozitāti no 70% līdz 80%. Šādām īpašībām apveltītas arī komētas mazākās daļiņas – putekļu graudi, ko parāda Rosettas COSIMA un MIDAS instrumenti - tām ir zema kohēzija tās viegli sadalās. Fizikālie procesi, kas iespējams apraksta šo sadalīšanos ir…
The Philae lander mission and science overview.
2017
The Philae lander accomplished the first soft landing and the first scientific experiments of a human-made spacecraft on the surface of a comet. Planned, expected and unexpected activities and events happened during the descent, the touch-downs, the hopping across and the stay and operations on the surface. The key results were obtained during 12–14 November 2014, at 3 AU from the Sun, during the 63 h long period of the descent and of the first science sequence on the surface. Thereafter, Philae went into hibernation, waking up again in late April 2015 with subsequent communication periods with Earth (via the orbiter), too short to enable new scientific activities. The science return of the…
Sublimation of icy aggregates in the coma of comet 67P/Churyumov–Gerasimenko detected with the OSIRIS cameras on board Rosetta
2016
Beginning in 2014 March, the OSIRIS (Optical, Spectroscopic, and Infrared Remote Imaging System) cameras began capturing images of the nucleus and coma (gas and dust) of comet 67P/Churyumov¿Gerasimenko using both the wide angle camera (WAC) and the narrow angle camera (NAC). The many observations taken since July of 2014 have been used to study the morphology, location, and temporal variation of the comet's dust jets. We analysed the dust monitoring observations shortly after the southern vernal equinox on 2015 May 30 and 31 with the WAC at the heliocentric distance Rh = 1.53 AU, where it is possible to observe that the jet rotates with the nucleus. We found that the decline of brightness a…
Philae's first days on the comet
2015
On 12 November 2014, Philae landed on the surface of comet 67P/Churyumov-Gerasimenko (67P), making an almost 30-year dream a reality. The pioneering flybys of 1P/Halley in 1986 revealed that despite being made primarily of ice, it was covered in highly absorbing carbonrich molecules. What is their composition? When did they form, and through which chemical routes? Might they have constituted prebiotic molecules necessary for life? At a larger scale, what can one learn from comets that has relevance to the evolution of the solar system and planets? ![Figure][1] 12 NOVEMBER 2014: PHILAE LANDED ON THE NUCLEUS OF COMET 67P CREDIT: ESA/ROSETTA/MPS FOR OSIRIS TEAM MPS/UPD/LAM/IAA/SSO/INTA/UPM/DAS…
Spatiotemporal properties of nanoshell plasmonic response for strong-field experiments
2015
International audience; Field enhancement behavior of a SiO 2 /Au nanoshell is studied in the framework of strong-field physics. Localized plasmonic fields induce local electric field enhancement with the potential to lead to the strong-field regime without the use of costly amplified lasers. In this framework, electrons are tunnel ionized from the nanoshell and accelerated by the local field being spatially inhomogeneous in terms of spectral and polarization properties. These processes are happening within a single laser shot, and thermal effects are therefore neglected. We show that the localized response to ultrashort femtosecond pulses can be investigated by extending Mie theory to mult…
Baseline Characteristics Predicting Very Good Outcome of Allogeneic Hematopoietic Cell Transplantation in Young Patients With High Cytogenetic Risk C…
2017
Patients with chronic lymphocytic leukemia with del(17p) or del(11q) have poor long-term prognosis with targeted therapies. Conversely, this retrospective European Society for Blood and Marrow Transplantation registry study shows that young high cytogenetic risk responsive patients with human leukocyte antigen-matched donors have a high 8-year progression-free survival and low 2-year non-relapse mortality after allogeneic stem cell transplantation. This treatment then may compare favorably with targeted therapies for younger high cytogenetic risk patients.Background: Patients with genetically high-risk relapsed/refractory chronic lymphocytic leukemia have shorter median progression-free sur…
Zvaigžņotā Debess: 2008, Pavasaris
2008
Latvijas Zinātņu akadēmija, Latvijas Universitāte
Spectroscopy of 253No and its daughters
2011
Abstract New high-statistics data have been obtained on the decay properties of 253 No and its daughters using the reaction 207 Pb( 48 Ca, 2n) 253 No. This was made possible thanks to an improved transmission of fusion–evaporation residues through the VASSILISSA recoil separator and an increased efficiency of the GABRIELA detector setup. The decay schemes of 253 No and 249 Fm have been revisited. The known level scheme of 249 Fm has been confirmed, including a new level at 669 keV excitation energy. The observation of L X-rays in coincidence with the α decay of 249 Fm gives additional support to the ground-state configuration of 1 / 2 + [ 631 ] instead of 5 / 2 + [ 622 ] for 245 Cf. In both…
Insights into mRNP biogenesis provided by new genetic interactions among export and transcription factors.
2012
Abstract Background The various steps of mRNP biogenesis (transcription, processing and export) are interconnected. It has been shown that the transcription machinery plays a pivotal role in mRNP assembly, since several mRNA export factors are recruited during transcription and physically interact with components of the transcription machinery. Although the shuttling DEAD-box protein Dbp5p is concentrated on the cytoplasmic fibrils of the NPC, previous studies demonstrated that it interacts physically and genetically with factors involved in transcription initiation. Results We investigated the effect of mutations affecting various components of the transcription initiation apparatus on the…