| 1. |
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| 2. |
- Aad, G., et al.
(författare)
-
- 2015
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Ingår i: Journal of High Energy Physics. - : Springer-Verlag New York. - 1029-8479 .- 1126-6708. ; :9
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Wade, C. M., et al.
(författare)
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Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 326:5954, s. 865-867
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Tidskriftsartikel (refereegranskat)abstract
- We report a high-quality draft sequence of the genome of the horse ( Equus caballus). The genome is relatively repetitive but has little segmental duplication. Chromosomes appear to have undergone few historical rearrangements: 53% of equine chromosomes show conserved synteny to a single human chromosome. Equine chromosome 11 is shown to have an evolutionary new centromere devoid of centromeric satellite DNA, suggesting that centromeric function may arise before satellite repeat accumulation. Linkage disequilibrium, showing the influences of early domestication of large herds of female horses, is intermediate in length between dog and human, and there is long-range haplotype sharing among breeds.
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| 4. |
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| 5. |
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| 6. |
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| 7. |
- Praena, J., et al.
(författare)
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Preparation and characterization of 33S samples for 33S(n,alpha)30Si cross-section measurements at the n_TOF facility at CERN
- 2018
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 890, s. 142-147
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Tidskriftsartikel (refereegranskat)abstract
- Thin 33S samples for the study of the 33S(n,alpha)30Si cross-section at the n_TOF facility at CERN were made by thermal evaporation of 33S powder onto a dedicated substrate made of kapton covered with thin layers of copper, chromium and titanium. This method has provided for the first time bare sulfur samples a few centimeters in diameter. The samples have shown an excellent adherence with no mass loss after few years and no sublimation in vacuum at room temperature. The determination of the mass thickness of 33S has been performed by means of Rutherford backscattering spectrometry. The samples have been successfully tested under neutron irradiation.
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| 8. |
- Diakaki, M., et al.
(författare)
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Towards the high-accuracy determination of the 238U fission cross section at the threshold region at CERN -€“ n_TOF
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X.
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Konferensbidrag (refereegranskat)abstract
- The U-238 fission cross section is an international standard beyond 2 MeV where the fission plateau starts. However, due to its importance in fission reactors, this cross-section should be very accurately known also in the threshold region below 2 MeV. The U-238 fission cross section has been measured relative to the U-235 fission cross section at CERN - n_TOF with different detection systems. These datasets have been collected and suitably combined to increase the counting statistics in the threshold region from about 300 keV up to 3 MeV. The results are compared with other experimental data, evaluated libraries, and the IAEA standards.
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| 9. |
- Paradela, C., et al.
(författare)
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High-accuracy determination of the 238U/235U fission cross section ratio up to ~1 GeV at n_TOF at CERN
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 91, s. 024602-
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Tidskriftsartikel (refereegranskat)abstract
- The U238 to U235 fission cross section ratio has been determined at n_TOF up to ≈1 GeV, with two different detection systems, in different geometrical configurations. A total of four datasets has been collected and compared. They are all consistent to each other within the relative systematic uncertainty of 3–4%. The data collected at n_TOF have been suitably combined to yield a unique fission cross section ratio as a function of neutron energy. The result confirms current evaluations up to 200 MeV. Good agreement is also observed with theoretical calculations based on the INCL++/Gemini++ combination up to the highest measured energy. The n_TOF results may help solve a long-standing discrepancy between the two most important experimental datasets available so far above 20 MeV, while extending the neutron energy range for the first time up to ≈1 GeV.
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| 10. |
- Leal-Cidoncha, E., et al.
(författare)
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Fission Fragment Angular Distribution measurements of 235U and 238U at CERN n_TOF facility
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X.
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Konferensbidrag (refereegranskat)abstract
- Neutron-induced fission cross sections of U-238 and U-235 are used as standards in the fast neutron region up to 200 MeV. A high accuracy of the standards is relevant to experimentally determine other neutron reaction cross sections. Therefore, the detection efficiency should be corrected by using the angular distribution of the fission fragments (FFAD), which are barely known above 20 MeV. In addition, the angular distribution of the fragments produced in the fission of highly excited and deformed nuclei is an important observable to investigate the nuclear fission process. In order to measure the FFAD of neutron-induced reactions, a fission detection setup based on parallel-plate avalanche counters (PPACs) has been developed and successfully used at the CERN-n_TOF facility. In this work, we present the preliminary results on the analysis of new U-235(n,f) and U-238(n,f) data in the extended energy range up to 200 MeV compared to the existing experimental data.
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| 11. |
- Leal-Cidoncha, E., et al.
(författare)
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High accuracy 234U(n,f) cross section in the resonance energy region
- 2017
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Ingår i: ND 2016. - Les Ulis : EDP Sciences. - 9782759890200
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Konferensbidrag (refereegranskat)abstract
- New results are presented of the 234U neutron-induced fission cross section, obtained with high accuracy in the resonance region by means of two methods using the 235U(n,f) as reference. The recent evaluation of the 235U(n,f) obtained with SAMMY by L. C. Leal et al. (these Proceedings), based on previous n_TOF data [1], has been used to calculate the 234U(n,f) cross section through the 234U/235U ratio, being here compared with the results obtained by using the n_TOF neutron flux.
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| 12. |
- Tarrío, Diego, et al.
(författare)
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Fission Fragment Angular Distribution of Th-232(n,f) at the CERN n_TOF Facility
- 2014
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Ingår i: Nuclear Data Sheets. - Univ Santiago de Compostela, Santiago De Compostela, Spain. [Leong, L. S.; Audouin, L.; Tassan-Got, L.; Lederer, C.] IPN, CNRS, IN2P3, Orsay, France. [Altstadt, S.; Langer, C.; Lederer, C.; Reifarth, R.; Schmidt, S.; Weigand, M.] Goethe Univ Frankfurt, D-60054 Frankfurt, Germany. [Andrzejewski, J.; Marganiec, J.; Perkowski, J.] Univ Lodz, PL-90131 Lodz, Poland. [Barbagallo, M.; Colonna, N.; Mastromarco, M.; Meaze, M.; Tagliente, G.; Variale, V.] Ist Nazl Fis Nucl, I-70126 Bari, Italy. [Becares, V.; Cano-Ott, D.; Garcia, A. R.; Gonzalez-Romero, E.; Martinez, T.; Mendoza, E.] CIEMAT, E-28040 Madrid, Spain. [Becvar, F.; Krticka, M.; Kroll, J.; Valenta, S.] Charles Univ Prague, Prague, Czech Republic. [Belloni, F.; Berthoumieux, E.; Bosnar, D.; Chiaveri, E.; Fraval, K.; Gunsing, F.] CEA Saclay, Irfu, F-91191 Gif Sur Yvette, France. [Berthoumieux, E.; Boccone, V.; Bosnar, D.; Brugger, M.; Calviani, M.; Cerutti, F.; Chiaveri, E.; Chin, M.; Ferrari, A.; Guerrero, C.; Kadi, Y.; Losito, R.; Roman, F.; Rubbia, C.; Tsinganis, A.; Versaci, R.; Vlachoudis, V.] CERN, European Org Nucl Res, CH-1211 Geneva, Switzerland. [Billowes, J.; Ware, T.; Wright, T. J.] Univ Manchester, Manchester, Lancs, England. [Zugec, P.] Univ Zagreb, Fac Sci, Dept Phys, Zagreb 41000, Croatia. [Calvino, F.; Cortes, G.; Gomez-Hornillos, M. B.; Riego, A.] Univ Politecn Cataluna, Barcelona, Spain. [Carrapico, C.; Goncalves, I. F.; Sarmento, R.; Vaz, P.] Univ Tecn Lisboa, Inst Super Tecn, Inst Tecnol Nucl, P-1096 Lisbon, Portugal. [Cortes-Giraldo, M. A.; Praena, J.; Quesada, J. M.] Univ Seville, Seville, Spain. [Diakaki, M.; Karadimos, D.; Kokkoris, M.; Vlastou, R.] Natl Tech Univ Athens, GR-10682 Athens, Greece. [Domingo-Pardo, C.; Giubrone, G.; Tain, J. L.] Univ Valencia, CSIC, Inst Fis Corpuscular, E-46003 Valencia, Spain. [Dzysiuk, N.; Mastinu, P. F.] Ist Nazl Fis Nucl, Lab Nazl Legnaro, Milan, Italy. [Eleftheriadis, C.; Manousos, A.] Aristotle Univ Thessaloniki, GR-54006 Thessaloniki, Greece. [Ganesan, S.; Gurusamy, P.] Bhabha Atom Res Ctr, Bombay 400085, Maharashtra, India. [Griesmayer, E.; Jericha, E.; Leeb, H.; Weiss, C.] Vienna Univ Technol, Inst Atom, Vienna, Austria. [Jenkins, D. G.; Vermeulen, M. J.] Univ York, York YO10 5DD, N Yorkshire, England. [Kaeppeler, F.] Karlsruhe Inst Technol, Inst Kernphys, D-76021 Karlsruhe, Germany. [Koehler, P.] Oak Ridge Natl Lab, Oak Ridge, TN 37831 USA. [Lederer, C.; Pavlik, A.; Wallner, A.] Univ Vienna, Fac Phys, A-1010 Vienna, Austria. [Massimi, C.; Mingrone, F.; Vannini, G.] Univ Bologna, Dipartimento Fis, I-40126 Bologna, Italy. [Massimi, C.; Mingrone, F.; Vannini, G.] Sez INFN Bologna, Bologna, Italy. [Mengoni, A.; Ventura, A.] Agenzia Nazl Nuove Tecnol, Eenergia & Sviluppo Econ Sostenibile ENEA, Bologna, Italy. [Milazzo, P. M.] Ist Nazl Fis Nucl, Trieste, Italy. [Mirea, M.; Roman, F.] Horia Hulubei Natl Inst Phys & Nucl Engn, IFIN HH, Bucharest, Romania. [Mondalaers, W.; Plompen, A.; Schillebeeckx, P.] European Commiss JRC, Inst Reference Mat & Measurements, B-2440 Geel, Belgium. [Rauscher, T.] Univ Basel, Dept Phys & Astron, Basel, Switzerland. [Rubbia, C.] Ist Nazl Fis Nucl, Lab Nazl Gran Sasso, Assergi, AQ, Italy. : Elsevier BV. - 0090-3752 .- 1095-9904. ; 119, s. 35-37
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Tidskriftsartikel (refereegranskat)abstract
- The angular distribution of fragments emitted in neutron-induced fission of Th-232 was measured in the white spectrum neutron beam at the n_TOF facility at CERN. A reaction chamber based on Parallel Plate Avalanche Counters (PPAC) was used, where the detectors and the targets have been tilted 45 degrees with respect to the neutron beam direction in order to cover the full angular range of the fission fragments. A GEANT4 simulation has been developed to study the setup efficiency. The data analysis and the preliminary results obtained for the Th-232(n,f) between fission threshold and 100 MeV are presented here.
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| 13. |
- Tarrío, Diego, et al.
(författare)
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Measurement of the angular distribution of fission fragments using a PPAC assembly at CERN n_TOF
- 2014
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 743, s. 79-85
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Tidskriftsartikel (refereegranskat)abstract
- A fission reaction chamber based on Parallel Plate Avalanche Counters (PPACs) was built for measuring angular distributions of fragments emitted in neutron-induced fission of actinides at the neutron beam available at the Neutron Time-Of-Flight (n_TOF) facility at CERN. The detectors and the samples were tilted 45 degrees with respect to the neutron beam direction to cover all the possible values of the emission angle of the fission fragments. The main features of this setup are discussed and results on the fission fragment angular distribution are provided for the Th-232(n,f) reaction around the fission threshold. The results are compared with the available data in the literature, demonstrating the good capabilities of this setup.
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| 14. |
- Tarrío, Diego, et al.
(författare)
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Neutron-induced fission cross sections of Th-232 and U-233 up to 1 GeV using parallel plate avalanche counters at the CERN n_TOF facility
- 2023
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 107:4
-
Tidskriftsartikel (refereegranskat)abstract
- The neutron-induced fission cross sections of Th-232 and U-233 were measured relative to U-235 in a wide neutron energy range up to 1 GeV (and from fission threshold in the case of Th-232, and from 0.7 eV in case of U-233), using the white-spectrum neutron source at the CERN Neutron Time-of-Flight (n_TOF) facility. Parallel plate avalanche counters (PPACs) were used, installed at the Experimental Area 1 (EAR1), which is located at 185 m from the neutron spallation target. The anisotropic emission of fission fragments were taken into account in the detection efficiency by using, in the case of U-233, previous results available in EXFOR, whereas in the case of Th-232 these data were obtained from our measurement, using PPACs and targets tilted 45 degrees with respect to the neutron beam direction. Finally, the obtained results are compared with past measurements and major evaluated nuclear data libraries. Calculations using the high-energy reaction models INCL++ and ABLA07 were performed and some of their parameters were modified to reproduce the experimental results. At high energies, where no other neutron data exist, our results are compared with experimental data on proton-induced fission. Moreover, the dependence of the fission cross section at 1 GeV with the fissility parameter of the target nucleus is studied by combining those ( p, f) data with our (n, f) data on Th-232 and U-233 and on other isotopes studied earlier at n_TOF using the same experimental setup.
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| 15. |
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| 16. |
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| 17. |
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| 18. |
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| 19. |
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| 20. |
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| 21. |
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| 22. |
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| 23. |
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| 24. |
- Abbondanno, U, et al.
(författare)
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The data acquisition system of the neutron time-of-flight facility n_TOF at CERN
- 2005
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 538:1-3, s. 692-702
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Tidskriftsartikel (refereegranskat)abstract
- The n_TOF facility at CERN has been designed for the measurement of neutron capture, fission and (n, xn) cross-sections with high accuracy. This requires a flexible and-due to the high instantaneous neutron flux-almost dead time free data acquisition system. A scalable and versatile data solution has been designed based on 8-bit flash-ADCs with sampling rates up to 2 GHz and 8 Mbyte memory buffer. The software is written in C and C++ and is running on PCs equipped with RedHat Linux.
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| 25. |
- Felkel, S., et al.
(författare)
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Asian horses deepen the MSY phylogeny
- 2018
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Ingår i: Animal Genetics. - : WILEY. - 0268-9146 .- 1365-2052. ; 49:1, s. 90-93
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Tidskriftsartikel (refereegranskat)abstract
- Humans have shaped the population history of the horse ever since domestication about 5500years ago. Comparative analyses of the Y chromosome can illuminate the paternal origin of modern horse breeds. This may also reveal different breeding strategies that led to the formation of extant breeds. Recently, a horse Y-chromosomal phylogeny of modern horses based on 1.46Mb of the male-specific Y (MSY) was generated. We extended this dataset with 52 samples from five European, two American and seven Asian breeds. As in the previous study, almost all modern European horses fall into a crown group, connected via a few autochthonous Northern European lineages to the outgroup, the Przewalski's Horse. In total, we now distinguish 42 MSY haplotypes determined by 158 variants within domestic horses. Asian horses show much higher diversity than previously found in European breeds. The Asian breeds also introduce a deep split to the phylogeny, preliminarily dated to 5527 +/- 872years. We conclude that the deep splitting Asian Y haplotypes are remnants of a far more diverse ancient horse population, whose haplotypes were lost in other lineages.
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| 26. |
- Ostrander, E. A., et al.
(författare)
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Dog10K : An international sequencing effort to advance studies of canine domestication, phenotypes and health
- 2019
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Ingår i: National Science Review. - : Oxford University Press (OUP). - 2095-5138 .- 2053-714X. ; 6:4, s. 810-824
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Tidskriftsartikel (refereegranskat)abstract
- Dogs are the most phenotypically diverse mammalian species, and they possess more known heritable disorders than any other non-human mammal. Efforts to catalog and characterize genetic variation across well-chosen populations of canines are necessary to advance our understanding of their evolutionary history and genetic architecture. To date, no organized effort has been undertaken to sequence the world's canid populations. The Dog10K Consortium (http://www.dog10kgenomes.org) is an international collaboration of researchers from across the globe who will generate 20× whole genomes from 10 000 canids in 5 years. This effort will capture the genetic diversity that underlies the phenotypic and geographical variability of modern canids worldwide. Breeds, village dogs, niche populations and extended pedigrees are currently being sequenced, and de novo assemblies of multiple canids are being constructed. This unprecedented dataset will address the genetic underpinnings of domestication, breed formation, aging, behavior and morphological variation. More generally, this effort will advance our understanding of human and canine health.
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| 27. |
- Paradela, C., et al.
(författare)
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High accuracy 235U(n,f) data in the resonance energy region
- 2016
-
Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2100-014X.
-
Konferensbidrag (refereegranskat)abstract
- The U-235 neutron-induced cross section is widely used as reference cross section for measuring other fission cross sections, but in the resonance region it is not considered as an IAEA standard because of the scarce experimental data covering the full region. In this work, we deal with a new analysis of the experimental data obtained with a detection setup based on parallel plate ionization chambers (PPACs) at the CERN n_TOF facility in the range from 1 eV to 10 keV. The relative cross section has been normalised to the IAEA value in the region between 7.8 and 11 eV, which is claimed as well-known. Comparison with the ENDF/B-VII evaluation and the IAEA reference file from 100 eV to 10 keV are provided.
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| 28. |
- Bannasch, DL, et al.
(författare)
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Dog colour patterns explained by modular promoters of ancient canid origin
- 2021
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Ingår i: Nature ecology & evolution. - : Springer Science and Business Media LLC. - 2397-334X. ; 5:10, s. 1415-
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Tidskriftsartikel (refereegranskat)abstract
- Distinctive colour patterns in dogs are an integral component of canine diversity. Colour pattern differences are thought to have arisen from mutation and artificial selection during and after domestication from wolves but important gaps remain in understanding how these patterns evolved and are genetically controlled. In other mammals, variation at the ASIP gene controls both the temporal and spatial distribution of yellow and black pigments. Here, we identify independent regulatory modules for ventral and hair cycle ASIP expression, and we characterize their action and evolutionary origin. Structural variants define multiple alleles for each regulatory module and are combined in different ways to explain five distinctive dog colour patterns. Phylogenetic analysis reveals that the haplotype combination for one of these patterns is shared with Arctic white wolves and that its hair cycle-specific module probably originated from an extinct canid that diverged from grey wolves more than 2 million years ago. Natural selection for a lighter coat during the Pleistocene provided the genetic framework for widespread colour variation in dogs and wolves.
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| 29. |
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| 30. |
- Lamb, ME, et al.
(författare)
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Human B1 and B2 bradykinin receptors and their agonists target caveolae-related lipid rafts to different degrees in HEK293 cells
- 2002
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Ingår i: Biochemistry. - : American Chemical Society (ACS). - 0006-2960 .- 1520-4995. ; 41:48, s. 14340-14347
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Tidskriftsartikel (refereegranskat)abstract
- To address the targeting of G protein-coupled receptors to caveolae-related lipid rafts (CLR), we studied the human B2 (B2R) and B1 (B1R) bradykinin receptor subtypes in HEK293 cells. CLR were enriched on the basis of their unique buoyant density and composition of cholesterol, caveolin-1, and flotillin-1 but not clathrin. CLR contained B2R and B1R as determined by both receptor immunoblotting and the increase in specific activity of receptor agonist binding to cells at both 4 and 37 degreesC when binding was followed by CLR enrichment. B2R was highly enriched in this fraction, whereas B I R was not enriched. Furthermore, acid washing of cells prior to cell disruption minimally affected the CLR-associated B2R agonist binding, whereas it dissociated a major portion of the CLR-associated B I R agonist binding. In addition, when agonist binding at 4 degreesC was followed by an increase in the temperature to 37 degreesC B2R agonist binding in CLR transiently increased, and this increase was dependent on the C-terminal domain. On the other hand, B1R agonist binding remained unchanged and was independent of the C-terminal domain. Our results show that B2R is constitutively targeted to CLR in HEK293 cells and appears to shuttle the agonist through these domains, whereas B1R may be there by default.
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| 31. |
- Lefler, D, et al.
(författare)
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Jak2 and Ca2+/calmodulin are key intermediates for bradykinin B-2 receptor-mediated activation of Na+/H+ exchange in KNRK and CHO cells
- 2003
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Ingår i: Assay and Drug Development Technologies. - : Mary Ann Liebert Inc. - 1540-658X .- 1557-8127. ; 1:2, s. 281-289
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Tidskriftsartikel (refereegranskat)abstract
- Na+/H+ exchangers are ubiquitous in mammalian cells, carrying out key functions, such as cell volume defense, acid-base homeostasis, and regulation of the cytoskeleton. We used two screening technologies (FLIPR and microphysiometry) to characterize the signal transduction pathway used by the bradykinin beta(2) receptor to activate Na+/H+ exchange in two cell lines, KNRK and CHO. In both cell types, beta(2) receptor activation resulted in rapid increases in the rate of proton extrusion that were sodium-dependent and could be blocked by the Na+/H+ exchange inhibitors EIPA and MIA or by replacing extracellular sodium with TMA. Activation of Na+/H+ exchange by bradykinin was concentration-dependent and could be blocked by the selective beta(2) receptor antagonist HOE140, but not by the beta(1) receptor antagonist des-Arg(10)-HOE140. Inhibitors of Jak2 tyrosine kinase (genistein and AG490) and of CAM (W-7 and calmidazolium) attenuated bradykinin-induced activation of Na+/H+ exchange. Bradykinin induced formation of a complex between CAM and Jak2, supporting a regulatory role for Jak2 and CAM in the activation of Na+/H+ exchange in KNRK and CHO cells. We propose that this pathway (beta(2) receptor --> Jak2 --> CAM --> Na+/H+ exchanger) is a fundamental regulator of Na+/H+ exchange activity.
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| 32. |
- Mausberg, Theresa-Bernadette, et al.
(författare)
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A Locus on Chromosome 5 Is Associated with Dilated Cardiomyopathy in Doberman Pinschers
- 2011
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Ingår i: PLoS One. - : Public Library of Science (PLoS). - 1932-6203. ; 6:5, s. e20042-
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Tidskriftsartikel (refereegranskat)abstract
- Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified. DCM also occurs with high prevalence in several large dog breeds. In the Doberman Pinscher a specific DCM form characterized by arrhythmias and/or echocardiographic changes has been intensively studied by veterinary cardiologists. We performed a genome-wide association study in Doberman Pinschers. Using 71 cases and 70 controls collected in Germany we identified a genome-wide significant association to DCM on chromosome 5. We validated the association in an independent cohort collected in the United Kingdom. There is no known DCM candidate gene under the association signal. Therefore, DCM in Doberman Pinschers offers the chance of identifying a novel DCM gene that might also be relevant for human health.
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| 33. |
- McCue, Molly E., et al.
(författare)
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A High Density SNP Array for the Domestic Horse and Extant Perissodactyla : Utility for Association Mapping, Genetic Diversity, and Phylogeny Studies
- 2012
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:1, s. e1002451-
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Tidskriftsartikel (refereegranskat)abstract
- An equine SNP genotyping array was developed and evaluated on a panel of samples representing 14 domestic horse breeds and 18 evolutionarily related species. More than 54,000 polymorphic SNPs provided an average inter-SNP spacing of similar to 43 kb. The mean minor allele frequency across domestic horse breeds was 0.23, and the number of polymorphic SNPs within breeds ranged from 43,287 to 52,085. Genome-wide linkage disequilibrium (LD) in most breeds declined rapidly over the first 50-100 kb and reached background levels within 1-2 Mb. The extent of LD and the level of inbreeding were highest in the Thoroughbred and lowest in the Mongolian and Quarter Horse. Multidimensional scaling (MDS) analyses demonstrated the tight grouping of individuals within most breeds, close proximity of related breeds, and less tight grouping in admixed breeds. The close relationship between the Przewalski's Horse and the domestic horse was demonstrated by pair-wise genetic distance and MDS. Genotyping of other Perissodactyla (zebras, asses, tapirs, and rhinoceros) was variably successful, with call rates and the number of polymorphic loci varying across taxa. Parsimony analysis placed the modern horse as sister taxa to Equus przewalski. The utility of the SNP array in genome-wide association was confirmed by mapping the known recessive chestnut coat color locus (MC1R) and defining a conserved haplotype of similar to 750 kb across all breeds. These results demonstrate the high quality of this SNP genotyping resource, its usefulness in diverse genome analyses of the horse, and potential use in related species.
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| 34. |
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| 35. |
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| 36. |
- Owczarek-Lipska, Marta, et al.
(författare)
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Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers
- 2012
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 7:6, s. e39176-
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Tidskriftsartikel (refereegranskat)abstract
- Crosslinking of immunoglobulin E antibodies (IgE) bound at the surface of mast cells and subsequent mediator release is considered the most important trigger for allergic reactions. Therefore, the genetic control of IgE levels is studied in the context of allergic diseases, such as asthma, atopic rhinitis, or atopic dermatitis (AD). We performed genome-wide association studies in 161 Labrador Retrievers with regard to total and allergen-specific immunoglobulin E (IgE) levels. We identified a genome-wide significant association on CFA 5 with the antigen-specific IgE responsiveness to Acarus siro. We detected a second genome-wide significant association with respect to the antigen-specific IgE responsiveness to Tyrophagus putrescentiae at a different locus on chromosome 5. A. siro and T. putrescentiae both belong to the family Acaridae and represent so-called storage or forage mites. These forage mites are discussed as major allergen sources in canine AD. No obvious candidate gene for the regulation of IgE levels is located under the two association signals. Therefore our studies offer a chance of identifying a novel mechanism controlling the host's IgE response.
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| 37. |
- Plompen, A. J. M., et al.
(författare)
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The joint evaluated fission and fusion nuclear data library, JEFF-3.3
- 2020
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 56:7
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Forskningsöversikt (refereegranskat)abstract
- The joint evaluated fission and fusion nuclear data library 3.3 is described. New evaluations for neutron-induced interactions with the major actinides 235U, 238U and 239Pu, on 241Am and 23Na, 59Ni, Cr, Cu, Zr, Cd, Hf, W, Au, Pb and Bi are presented. It includes new fission yields, prompt fission neutron spectra and average number of neutrons per fission. In addition, new data for radioactive decay, thermal neutron scattering, gamma-ray emission, neutron activation, delayed neutrons and displacement damage are presented. JEFF-3.3 was complemented by files from the TENDL project. The libraries for photon, proton, deuteron, triton, helion and alpha-particle induced reactions are from TENDL-2017. The demands for uncertainty quantification in modeling led to many new covariance data for the evaluations. A comparison between results from model calculations using the JEFF-3.3 library and those from benchmark experiments for criticality, delayed neutron yields, shielding and decay heat, reveals that JEFF-3.3 performes very well for a wide range of nuclear technology applications, in particular nuclear energy.
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| 38. |
- Schafmayer, Clemens, et al.
(författare)
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Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms
- 2019
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Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 68:5, s. 854-865
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Tidskriftsartikel (refereegranskat)abstract
- Objective Diverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease. Design Discovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent. Associations were replicated in a European sample of 3893 cases and 2829 diverticula-free controls and evaluated for risk contribution to diverticulitis and uncomplicated diverticulosis. Transcripts at top 20 replicating loci were analysed by real-time quatitative PCR in preparations of the mucosal, submucosal and muscular layer of colon. The localisation of expressed protein at selected loci was investigated by immunohistochemistry. Results We discovered 48 risk loci, of which 12 are novel, with genome-wide significance and consistent OR in the replication sample. Nominal replication (p< 0.05) was observed for 27 loci, and additional 8 in meta-analysis with a population-based cohort. The most significant novel risk variant rs9960286 is located near CTAGE1 with a p value of 2.3x10-10 and 0.002 (OR allelic = 1.14 (95% CI 1.05 to 1.24)) in the replication analysis. Four loci showed stronger effects for diverticulitis, PHGR1 (OR 1.32, 95% CI 1.12 to 1.56), FAM155A-2 (OR 1.21, 95% CI 1.04 to 1.42), CALCB (OR 1.17, 95% CI 1.03 to 1.33) and S100A10 (OR 1.17, 95% CI 1.03 to 1.33). Conclusion I n silico analyses point to diverticulosis primarily as a disorder of intestinal neuromuscular function and of impaired connective fibre support, while an additional diverticulitis risk might be conferred by epithelial dysfunction.
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| 39. |
- Seppala, Eija H., et al.
(författare)
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LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
- 2011
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:7, s. e1002194-
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Tidskriftsartikel (refereegranskat)abstract
- One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned until age 10 to 500 trillion synapses composing the final network. Genetic epilepsies are the most common neurological diseases with onset during pruning, affecting 0.5% of 2-10-year-old children, and these epilepsies are often characterized by spontaneous remission. We previously described a remitting epilepsy in the Lagotto romagnolo canine breed. Here, we identify the gene defect and affected neurochemical pathway. We reconstructed a large Lagotto pedigree of around 34 affected animals. Using genome-wide association in 11 discordant sib-pairs from this pedigree, we mapped the disease locus to a 1.7 Mb region of homozygosity in chromosome 3 where we identified a protein-truncating mutation in the Lgi2 gene, a homologue of the human epilepsy gene LGI1. We show that LGI2, like LGI1, is neuronally secreted and acts on metalloproteinase-lacking members of the ADAM family of neuronal receptors, which function in synapse remodeling, and that LGI2 truncation, like LGI1 truncations, prevents secretion and ADAM interaction. The resulting epilepsy onsets at around seven weeks (equivalent to human two years), and remits by four months (human eight years), versus onset after age eight in the majority of human patients with LGI1 mutations. Finally, we show that Lgi2 is expressed highly in the immediate post-natal period until halfway through pruning, unlike Lgi1, which is expressed in the latter part of pruning and beyond. LGI2 acts at least in part through the same ADAM receptors as LGI1, but earlier, ensuring electrical stability (absence of epilepsy) during pruning years, preceding this same function performed by LGI1 in later years. LGI2 should be considered a candidate gene for common remitting childhood epilepsies, and LGI2-to-LGI1 transition for mechanisms of childhood epilepsy remission.
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| 40. |
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| 41. |
- Zhang, W., et al.
(författare)
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EULAR evidence-based recommendations for the diagnosis of knee osteoarthritis
- 2010
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 69:3, s. 483-489
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Forskningsöversikt (refereegranskat)abstract
- Objective To develop evidence-based recommendations for the diagnosis of knee osteoarthritis (OA). Methods The multidisciplinary guideline development group, representing 12 European countries, generated 10 key propositions regarding diagnosis using a Delphi consensus approach. For each recommendation, research evidence was searched systematically. Whenever possible, the sensitivity, specificity and likelihood ratio were calculated for individual diagnostic indicators and a diagnostic ladder was developed using Bayes' method. Secondary analyses were undertaken to test directly the recommendations using multiple predictive models in two populations from the UK and the Netherlands. Strength of recommendation was assessed by the EULAR visual analogue scale. Results Recommendations covered the definition of knee OA and its risk factors, subsets, typical symptoms and signs, the use of imaging and laboratory tests and differential diagnosis. Three symptoms (persistent knee pain, limited morning stiffness and reduced function) and three signs (crepitus, restricted movement and bony enlargement) appeared to be the most useful. Assuming a 12.5% background prevalence of knee OA in adults aged >= 45 years, the estimated probability of having radiographic knee OA increased with increasing number of positive features, to 99% when all six symptoms and signs were present. The performance of the recommendations in the study populations varied according to the definition of knee OA, background risk and number of tests applied. Conclusion 10 key recommendations for diagnosis of knee OA were developed using both research evidence and expert consensus. Although there is no agreed reference standard, thorough clinical assessment alone can provide a confident rule-in diagnosis.
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