468 research outputs found
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions, and duplications within a âŒ2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at âŒ1.2-1.5 Mb upstream of SOX9 has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding SOX9, remains poorly defined. We report two novel deletions upstream of SOX9 in families with PRS, allowing refinement of the regions harboring candidate craniofacial regulatory elements. In parallel, ChIP-Seq for p300 binding sites in mouse craniofacial tissue led to the identification of several novel craniofacial enhancers at the SOX9 locus, which were validated in transgenic reporter mice and zebrafish. Notably, some of the functionally validated elements fall within the PRS deletions. These studies suggest that multiple noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS
Exposure Path Perceptions and Protective Actions in Biological Water Contamination Emergencies
This study extends the Protective Action Decision Model, developed to address disaster warning responses in the context of natural hazards, to âboil waterâ advisories. The study examined 110 Boston residentsâ and 203 Texas studentsâ expectations of getting sick through different exposure paths for contact with contaminated water. In addition, the study assessed respondentsâ actual implementation (for residents) or behavioral expectations (for students) of three different protective actions â bottled water, boiled water, and personally chlorinated water â as well as their demo-graphic characteristics and previous experience with water contamination. The results indicate that people distinguish among the exposure paths, but the differences are small (one-third to one-half of the response scale). Nonetheless, the perceived risk from the exposure paths helps to explain why people are expected to consume (or actually consumed) bottled water rather than boiled or personally chlorinated water. Overall, these results indicate that local authorities should take care to communicate the relative risks of different exposure paths and should expect that people will respond to a boil water order primarily by consuming bottled water. Thus, they should make special efforts to increase supplies of bottled water in their communities during water contamination emergencies
Extensive investigation of 0<sup>+</sup> states in rare earth region nuclei
The nature of 0+ excitations, especially in transitional and deformed nuclei, has attracted new attention. Following a recent experiment studying 158Gd, we investigated a large group of nuclei in the rare-earth region with the (p,t) pickup reaction using the Q3D magnetic spectrograph at the University of Munich MP tandem accelerator laboratory. Outgoing tritons were recorded at various lab angles, and their angular distributions are compared to those calculated using the distorted-wave Born approximation. Using the unique shape of the L=0 angular distribution, more than double the number of 0+ states than were previously known are identified. The distribution of 0+ energies and cross sections is discussed in terms of collective and noncollective degrees of freedom, and the density of low-lying 0+ states is discussed as a corroboration of a characteristic feature of phase transition regions. The degree of level mixing, as extracted from Brody distribution fits to the energy spacings of adjacent 0+ levels, is also explored.</p
Model-independent search for CP violation in D0âKâK+ÏâÏ+ and D0âÏâÏ+Ï+Ïâ decays
A search for CP violation in the phase-space structures of D0 and View the MathML source decays to the final states KâK+ÏâÏ+ and ÏâÏ+Ï+Ïâ is presented. The search is carried out with a data set corresponding to an integrated luminosity of 1.0 fbâ1 collected in 2011 by the LHCb experiment in pp collisions at a centre-of-mass energy of 7 TeV. For the KâK+ÏâÏ+ final state, the four-body phase space is divided into 32 bins, each bin with approximately 1800 decays. The p-value under the hypothesis of no CP violation is 9.1%, and in no bin is a CP asymmetry greater than 6.5% observed. The phase space of the ÏâÏ+Ï+Ïâ final state is partitioned into 128 bins, each bin with approximately 2500 decays. The p-value under the hypothesis of no CP violation is 41%, and in no bin is a CP asymmetry greater than 5.5% observed. All results are consistent with the hypothesis of no CP violation at the current sensitivity
Search for the lepton-flavor-violating decays Bs0âe±Όâ and B0âe±Όâ
A search for the lepton-flavor-violating decays Bs0âe±Όâ and B0âe±Όâ is performed with a data sample, corresponding to an integrated luminosity of 1.0ââfb-1 of pp collisions at âs=7ââTeV, collected by the LHCb experiment. The observed number of Bs0âe±Όâ and B0âe±Όâ candidates is consistent with background expectations. Upper limits on the branching fractions of both decays are determined to be B(Bs0âe±Όâ)101ââTeV/c2 and MLQ(B0âe±Όâ)>126ââTeV/c2 at 95% C.L., and are a factor of 2 higher than the previous bounds
Measurement of the branching fraction
The branching fraction is measured in a data sample
corresponding to 0.41 of integrated luminosity collected with the LHCb
detector at the LHC. This channel is sensitive to the penguin contributions
affecting the sin2 measurement from The
time-integrated branching fraction is measured to be . This is the most precise measurement to
date
Branching fraction and CP asymmetry of the decays B+âK0SÏ+ and B+âK0SK+
An analysis of B+ â K0
SÏ+ and B+ â K0
S K+ decays is performed with the LHCb experiment. The pp
collision data used correspond to integrated luminosities of 1 fbâ1 and 2 fbâ1 collected at centre-ofmass
energies of
â
s = 7 TeV and
â
s = 8 TeV, respectively. The ratio of branching fractions and the
direct CP asymmetries are measured to be B(B+ â K0
S K+
)/B(B+ â K0
SÏ+
) = 0.064 ± 0.009 (stat.) ±
0.004 (syst.), ACP(B+ â K0
SÏ+
) = â0.022 ± 0.025 (stat.) ± 0.010 (syst.) and ACP(B+ â K0
S K+
) =
â0.21 ± 0.14 (stat.) ± 0.01 (syst.). The data sample taken at
â
s = 7 TeV is used to search for
B+
c
â K0
S K+ decays and results in the upper limit ( fc · B(B+
c
â K0
S K+
))/( fu · B(B+ â K0
SÏ+
)) <
5.8 Ă 10â2 at 90% confidence level, where fc and fu denote the hadronisation fractions of a ÂŻb
quark
into a B+
c or a B+ meson, respectively
Measurement of the CP-violating phase \phi s in Bs->J/\psi\pi+\pi- decays
Measurement of the mixing-induced CP-violating phase phi_s in Bs decays is of
prime importance in probing new physics. Here 7421 +/- 105 signal events from
the dominantly CP-odd final state J/\psi pi+ pi- are selected in 1/fb of pp
collision data collected at sqrt{s} = 7 TeV with the LHCb detector. A
time-dependent fit to the data yields a value of
phi_s=-0.019^{+0.173+0.004}_{-0.174-0.003} rad, consistent with the Standard
Model expectation. No evidence of direct CP violation is found.Comment: 15 pages, 10 figures; minor revisions on May 23, 201
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