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- Mizumaki, H, et al.
(författare)
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A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia
- 2021
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Ingår i: Haematologica. - : Ferrata Storti Foundation (Haematologica). - 1592-8721 .- 0390-6078. ; 106:6, s. 1581-1590
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Tidskriftsartikel (refereegranskat)abstract
- Leukocytes that lack HLA allelic expression are frequently detected in patients with acquired aplastic anemia (AA) who respond to immunosuppressive therapy (IST), although the exact mechanisms underlying the HLA loss and HLA allele repertoire likely to acquire loss-of-function mutations are unknown. We identified a common nonsense mutation at position 19 (c.19C>T, p.R7X) in exon 1 (Exon1mut) of different HLA-A and -B alleles in HLA-lacking granulocytes from AA patients. A droplet digital PCR (ddPCR) assay capable of detecting as few as 0.07% Exon1mut HLA alleles in total DNA revealed the mutation was present in 29% (101/353) of AA patients, with a median allele frequency of 0.42% (range, 0.071% to 21.3%). Exon1mut occurred in only 12 different HLA-A (n=4) and HLA-B (n=8) alleles, including B*40:02 (n=31) and A*02:06 (n=15), which correspond to 4 HLA supertypes (A02, A03, B07, and B44). The percentages of patients who possessed at least one of these 12 HLA alleles were significantly higher in the 353 AA patients (92%, P
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| 3. |
- Yamamoto, A., et al.
(författare)
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The ATLAS central solenoid
- 2008
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 584:1, s. 53-74
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS detector at the CERN LHC is equipped with a superconducting magnet system consisting of three large toroids and a solenoid. The 2.3 m diameter, 5.3 m long solenoid is located at the heart of the experiment where it provides a 2 T field for spectrometry of the particles emanating from the interaction of the counter-rotating beams of hadrons. As the electromagnetic calorimeter of the experiment is situated outside the solenoid, the coil must be as transparent as possible to traversing particles. The magnet, which was designed at KEK, incorporates progress in technology coming from the development of previous solenoids of this type, in particular that of a new type of reinforced superconductor addressing the requirement of transparency. Special attention has been paid to ensuring reliability and ease of operation of the magnet, through the application of sufficiently conservative guidelines for the mechanical and electrical design, stringent testing during manufacture, and a comprehensive commissioning program. This report gives an overview of the design, manufacture, test, installation and commissioning of the ATLAS central solenoid.
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