Penguins leaving the pole: bound-state effects in B decaying to K* + photon

Applying perturbative QCD methods recently seen to give a good description of the two body hadronic decays of the B meson, we address the question of bound-state effects on the decay B into K* + gamma. Consistent with most analyses, we demonstrate that gluonic penguins, with photonic bremsstrahlung off a quark, change the decay rate by only a few percent. However, explicit off-shell b-quark effects normally discarded are found to be large in amplitude, although in the standard model accidents of phase minimize the effect on the rate. Using an asymptotic distribution amplitude for the K* and just the standard model, we can obtain a branching ratio of a few times 10^{-5}, consistent with the observed rate.Comment: 12 pages. U. of MD PP \#94-129; DOE/ER/40762-033; WM-94-104. LaTeX, One figure, available by fax or pos

A systematic study of J/psi suppression in cold nuclear matter

Based on a Glauber model, a statistical analysis of all mid-rapidity J/psi hadroproduction and leptoproduction data on nuclear targets is carried out. This allows us to determine the J/psi-nucleon inelastic cross section, whose knowledge is crucial to interpret the J/psi suppression observed in heavy-ion collisions, at SPS and at RHIC. The values of sigma are extracted from each experiment. A clear tension between the different data sets is reported. The global fit of all data gives sigma=3.4+/-0.2 mb, which is significantly smaller than previous estimates. A similar value, sigma=3.5+/-0.2 mb, is obtained when the nDS nuclear parton densities are included in the analysis, although we emphasize that the present uncertainties on gluon (anti)shadowing do not allow for a precise determination of sigma. Finally, no significant energy dependence of the J/psi-N interaction is observed, unless strong nuclear modifications of the parton densities are assumed.Comment: 25 pages, 5 figure

Search for direct production of charginos and neutralinos in events with three leptons and missing transverse momentum in √s = 7 TeV pp collisions with the ATLAS detector

A search for the direct production of charginos and neutralinos in final states with three electrons or muons and missing transverse momentum is presented. The analysis is based on 4.7 fb−1 of proton–proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with Standard Model expectations in three signal regions that are either depleted or enriched in Z-boson decays. Upper limits at 95% confidence level are set in R-parity conserving phenomenological minimal supersymmetric models and in simplified models, significantly extending previous results

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-associated disease and no or mono-allelic USH2A variants using whole genome sequencing (WGS) followed by an improved pipeline for variant interpretation to provide a conclusive diagnosis. One hundred subjects were screened using WGS to identify causative variants in USH2A or other USH/arRP-associated genes. In addition to the existing variant interpretation pipeline, a particular focus was put on assessing splice-affecting properties of variants, both in silico and in vitro. Also structural variants were extensively addressed. For variants resulting in pseudoexon inclusion, we designed and evaluated antisense oligonucleotides (AONs) using minigene splice assays and patient-derived photoreceptor precursor cells. Biallelic variants were identified in 49 of 100 subjects, including novel splice-affecting variants and structural variants, in USH2A or arRP/USH-associated genes. Thirteen variants were shown to affect USH2A pre-mRNA splicing, including four deep-intronic USH2A variants resulting in pseudoexon inclusion, which could be corrected upon AON treatment. We have shown that WGS, combined with a thorough variant interpretation pipeline focused on assessing pre-mRNA splicing defects and structural variants, is a powerful method to provide subjects with a rare genetic condition, a (likely) conclusive genetic diagnosis. This is essential for the development of future personalized treatments and for patients to be eligible for such treatments.</p

Search for heavy long-lived charged R-hadrons with the ATLAS detector in 3.2 fb(-1) of proton-proton collision data at root s=13 TeV

A search for heavy long-lived charged R-hadrons is reported using a data sample corresponding to 3.2 fb−1 of proton–proton collisions at √s = 13 TeV collected by the ATLAS experiment at the Large Hadron Collider at CERN. The search is based on observables related to large ionisation losses and slow propagation velocities, which are signatures of heavy charged particles travelling significantly slower than the speed of light. No significant deviations from the expected background are observed. Upper limits at 95% confidence level are provided on the production cross section of long-lived R-hadrons in the mass range from 600 GeV to 2000 GeV and gluino, bottom and top squark masses are excluded up to 1580 GeV, 805 GeV and 890 GeV, respectively

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26 centers, of whom 722 carried no or one pathogenic ABCA4 variant while 136 cases carried two ABCA4 alleles, one of which was a frequent mild variant, suggesting that deep-intronic variants (DIVs) or other cis-modifiers might have been missed. After single molecule molecular inversion probes (smMIPs)-based sequencing of the complete 128-kb ABCA4 locus, the effect of putative splice variants was assessed in vitro by midigene splice assays in HEK293T cells. The breakpoints of copy number variants (CNVs) were determined by junction PCR and Sanger sequencing. ABCA4 sequence analysis solved 207/520 (39.8%) naïve or unsolved cases and 70/202 (34.7%) monoallelic cases, while additional causal variants were identified in 54/136 (39.7%) of probands carrying two variants. Seven novel DIVs and six novel non-canonical splice site variants were detected in a total of 35 alleles and characterized, including the c.6283-321C&gt;G variant leading to a complex splicing defect. Additionally, four novel CNVs were identified and characterized in five alleles. These results confirm that smMIPs-based sequencing of the complete ABCA4 gene provides a cost-effective method to genetically solve retinopathy cases and that several rare structural and splice altering defects remain undiscovered in STGD1 cases