21 research outputs found
Physics with the KLOE-2 experiment at the upgraded DANE
Investigation at a --factory can shed light on several debated issues
in particle physics. We discuss: i) recent theoretical development and
experimental progress in kaon physics relevant for the Standard Model tests in
the flavor sector, ii) the sensitivity we can reach in probing CPT and Quantum
Mechanics from time evolution of entangled kaon states, iii) the interest for
improving on the present measurements of non-leptonic and radiative decays of
kaons and eta/eta mesons, iv) the contribution to understand the
nature of light scalar mesons, and v) the opportunity to search for narrow
di-lepton resonances suggested by recent models proposing a hidden dark-matter
sector. We also report on the physics in the continuum with the
measurements of (multi)hadronic cross sections and the study of gamma gamma
processes.Comment: 60 pages, 41 figures; added affiliation for one of the authors; added
reference to section
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CT imaging of small animals using monochromatized synchrotron x rays
Rats and chicken embryos were imaged in vivo with a prototype Multiple Energy Computed Tomography (MECT) system using monochromatized x rays from the X17 superconducting wiggler at the National Synchrotron Light Source. The CT configuration coated of a horizontal low-divergence, fan-shaped beam, 70 mm wide and 0.5 mm high, and a subject rotating about a vertical aids. A linear-array high-purity Ge detector with 140 elements, each 0.5 mm wide and 6 mm thick, was used with a data acquisition system that provides a linear response over almost six orders of magnitude of detector current. The dual photon absorptiometry (DPA) algorithm was applied to images of the rat head acquired at 20 and 45 keV to obtain two new images, one representing the low-Z, and the other the intermediate-Z clement group. The results indicate that the contrast resolution and the quantification accuracy of the images improve stepwise; first, with the monochromatic beam and, second, the DPA method. The system is a prototype for a brain scanner
Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the NF1 gene. NF1 affects approximately 1/3,000 individuals worldwide, with about 50% of cases representing de novo mutations. Although the NF1 gene was identified in 1990, the underlying gene mutations still remain undetected in a small but obdurate minority of NF1 patients. We postulated that in these patients, hitherto undetected pathogenic mutations might occur in regulatory elements far upstream of the NF1 gene. In an attempt to identify such remotely acting regulatory elements, we reasoned that some of them might reside within DNA sequences that (1) have the potential to interact at distance with the NF1 gene and (2) lie within a histone H3K27ac-enriched region, a characteristic of active enhancers. Combining Hi-C data, obtained by means of the chromosome conformation capture technique, with data on the location and level of histone H3K27ac enrichment upstream of the NF1 gene, we predicted in silico the presence of two remotely acting regulatory regions, located, respectively, approximately 600 kb and approximately 42 kb upstream of the NF1 gene. These regions were then sequenced in 47 NF1 patients in whom no mutations had been found in either the NF1 or SPRED1 gene regions. Five patients were found to harbour DNA sequence variants in the distal H3K27ac-enriched region. Although these variants are of uncertain pathological significance and still remain to be functionally characterized, this approach promises to be of general utility for the detection of mutations underlying other inherited disorders that may be caused by mutations in remotely acting regulatory elements