pinecone/core-2020-05-10-deduplication huggingface dataset:
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase, whereas Bruck syndrome type 1 has been mapped to chromosome 17, with evidence suggesting region 17p12, but the gene has remained elusive so far. Recently, the molecular spectrum of OI has been expanded with the description of the basis of a unique posttranslational modification of type I procollagen, that is, 3-prolyl-hydroxylation. Three proteins, cartilage-associated protein (CRTAP), prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene), and the prolyl cis-trans isomerase cyclophilin-B (PPIB), form a complex that is required for fibrillar collagen 3-prolyl-hydroxylation, and mutations in each gene have been shown to cause recessive forms of OI. Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI. Here we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations. Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. © 2011 American Society for Bone and Mineral Research. Copyright © 2011 American Society for Bone and Mineral Research
Multi-photon Exchange Processes in Ultraperipheral  Relativistic Heavy Ion Collisions

The very strong electromagnetic fields present in ultraperipheral relativistic heavy-ion collisions lead to important higher-order effects of the electromagnetic interaction. These multi-photon exchange processes are studied using perturbation theory and the sudden or Glauber approximation. In many important cases, the multi-photon amplitudes factorize into independent single-photon amplitudes. These amplitudes have a common impact parameter vector, which induces correlations between the amplitudes. Impact-parameter dependent equivalent-photon spectra for simultaneous excitation are calculated, as well as, impact-parameter dependent gammagamma-luminosities. Excitations, like the multi-phonon giant dipole resonances, vector meson production and multiple e(+)e(-)-pair production can be treated analytically in a bosonic model, analogous to the emission of soft photons in QED. (C) 2003 Elsevier B.V. All rights reserved
Determining beam parameters in a storage ring with cylindrical hodoscope using elastic proton-proton scattering

The EDDA-detector at the cooler-synchrotron COSY/Julich has been operated with an internal CH2 fiber target to measure proton-proton elastic scattering differential cross-sections. For data analysis knowledge of beam parameters, like position, width and angle, are indispensable. We have developed a method to obtain these values with high precision from the azimuthal and polar angles of the ejectiles only, by exploiting the coplanarity of the two final-state protons with the beam and the kinematic correlation. The formalism is described and results for beam parameters obtained during beam acceleration are given. (c) 2005 Elsevier B.V. All rights reserved
Bounding the Higgs width at the LHC using full analytic results for gg → e − e + μ − μ +

We revisit the hadronic production of the four-lepton final state, e − e + μ − μ + , through the fusion of initial state gluons. This process is mediated by loops of quarks and we provide first full analytic results for helicity amplitudes that account for both the effects of the quark mass in the loop and off-shell vector bosons. The analytic results have been implemented in the Monte Carlo program MCFM and are both fast, and numerically stable in the region of low Z transverse momentum. We use our results to study the interference between Higgs-mediated and continuum production of four-lepton final states, which is necessary in order to obtain accurate theoretical predictions outside the Higgs resonance region. We have confirmed and extended a recent analysis of Caola and Melnikov that proposes to use a measurement of the off-shell region to constrain the total width of the Higgs boson. Using a simple cut-and-count method, existing LHC data should bound the width at the level of 25–45 times the Standard Model expectation. We investigate the power of using a matrix element method to construct a kinematic discriminant to sharpen the constraint. In our analysis the bound on the Higgs width is improved by a factor of about 1 . 6 using a simple cut on the MEM discriminant, compared to an invariant mass cut m 4 l > 300 GeV
Far-infrared transmission in GaN, AlN, and AlGaN thin films grown by molecular beam epitaxy

We present a far-infrared transmission study on group-III nitride thin films. Cubic GaN and AlN\ud
layers and c-oriented wurtzite GaN, AlN, and AlxGa1−xN  x 0.3  layers were grown by molecular\ud
beam epitaxy on GaAs and Si 111  substrates, respectively. The Berreman effect allows us to\ud
observe simultaneously the transverse optic and the longitudinal optic phonons of both the cubic and\ud
the hexagonal films as transmission minima in the infrared spectra acquired with obliquely incident\ud
radiation. We discuss our results in terms of the relevant electromagnetic theory of infrared\ud
transmission in cubic and wurtzite thin films. We compare the infrared results with visible\ud
Raman-scattering measurements. In the case of films with low scattering volumes and/or low Raman\ud
efficiencies and also when the Raman signal of the substrate material obscures the weaker peaks\ud
from the nitride films, we find that the Berreman technique is particularly useful to complement\ud
Raman spectroscopy. © 2008 American Institute of Physics.This work was supported by the Spanish Ministry of\ud
Science and Technology  Contract No. MAT2007-63617 and\ud
the Ramon y Cajal Programme  and by the British EPSRCGBPeer reviewe
The supersymmetric vistas of the supergravity landscape

13 páginas.-- El PDF es la versión post-print.-- PACS 11.30.Pb, 04.65.+e, 11.25.-wIn the recent times a lot of effort has been devoted to improve our knowledge about the space of string theory vacua (“the landscape”) in order to find statistical grounds to justify how and why the theory selects its vacuum. Particularly interesting are those vacua that preserve some supersymmetry, which are always supersymmetric solutions of some supergravity theory. We are going to review some recent results on the problem of finding all the supersymmetric solutions of a supergravity theory. We will also review some interesting solutions that have been discovered using these methods.This work has been supported in part by the Spanish grant BFM2003-01090.Peer reviewe
Revisiting the Westerlund 2 field with the HESS telescope array

Aims. Previous observations with the HESS telescope array revealed the existence of extended very-high-energy (VHE; E > 100 GeV) γ-ray emission, HESS J1023–575, coincident with the young stellar cluster Westerlund 2. At the time of discovery, the origin of the observed emission was not unambiguously identified, and follow-up observations have been performed to further investigate the nature of this γ-ray source.

Methods. The Carina region towards the open cluster Westerlund 2 has been re-observed, increasing the total exposure to 45.9 h. The combined dataset includes 33 h of new data and now permits a search for energy-dependent morphology and detailed spectroscopy.

Results. A new, hard spectrum VHE γ-ray source, HESS J1026–582, was discovered with a statistical significance of 7σ. It is positionally coincident with the Fermi LAT pulsar PSRJ1028–5819. The positional coincidence and radio/γ-ray characteristics of the LAT pulsar favors a scenario where the TeV emission originates from a pulsar wind nebula. The nature of HESS J1023–575 is discussed in light of the deep HESS observations and recent multi-wavelength discoveries, including the Fermi LAT pulsar PSRJ1022–5746 and giant molecular clouds in the region. Despite the improved VHE dataset, a clear identification of the object responsible for the VHE emission from HESS J1023–575 is not yet possible, and contribution from the nearby high-energy pulsar and/or the open cluster remains a possibility.http://dx.doi.org/10.1051/0004-6361/201015290http://www.aanda.org/index.php?option=com_article&access=standard&Itemid=129&url=/articles/aa/abs/2011/01/aa15290-10/aa15290-10.htm
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.

To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal.\ud
We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Second, we used as an instrument a genetic score consisting of 14 common SNPs that exclusively associate with HDL cholesterol and tested this score in up to 12,482 cases of myocardial infarction and 41,331 controls. As a positive control, we also tested a genetic score of 13 common SNPs exclusively associated with LDL cholesterol.\ud
Carriers of the LIPG 396Ser allele (2·6% frequency) had higher HDL cholesterol (0·14 mmol/L higher, p=8×10(-13)) but similar levels of other lipid and non-lipid risk factors for myocardial infarction compared with non-carriers. This difference in HDL cholesterol is expected to decrease risk of myocardial infarction by 13% (odds ratio [OR] 0·87, 95% CI 0·84-0·91). However, we noted that the 396Ser allele was not associated with risk of myocardial infarction (OR 0·99, 95% CI 0·88-1·11, p=0·85). From observational epidemiology, an increase of 1 SD in HDL cholesterol was associated with reduced risk of myocardial infarction (OR 0·62, 95% CI 0·58-0·66). However, a 1 SD increase in HDL cholesterol due to genetic score was not associated with risk of myocardial infarction (OR 0·93, 95% CI 0·68-1·26, p=0·63). For LDL cholesterol, the estimate from observational epidemiology (a 1 SD increase in LDL cholesterol associated with OR 1·54, 95% CI 1·45-1·63) was concordant with that from genetic score (OR 2·13, 95% CI 1·69-2·69, p=2×10(-10)).\ud
Some genetic mechanisms that raise plasma HDL cholesterol do not seem to lower risk of myocardial infarction. These data challenge the concept that raising of plasma HDL cholesterol will uniformly translate into reductions in risk of myocardial infarction
Dike propagation in volcanic edifices: Overview and possible developments

Eruptions are often fed by dikes; therefore, better knowledge of dike propagation is necessary to improve our understanding of how magma is transferred and extruded at volcanoes. This study presents an overview of dike patterns and the factors controlling dike propagation within volcanic edifices. Largely based on published data, three main types of dikes (regional, circumferential and radial) are illustrated and discussed. Dike pattern data from 25 volcanic edifices in different settings are compared to derive semi-quantitative relationships between the topography (relief, shape, height, and presence of sector collapses) of the volcano, tectonic setting (presence of a regional stress field), and mean composition (SiO2 content). The overview demonstrates how dike propagation in a volcano is not a random process; rather, it depends from the following factors (listed in order of importance): the presence of relief, the shape of the edifice and regional tectonic control. We find that taller volcanoes develop longer radial dikes, whose (mainly lateral) propagation is independent of the composition of magma or the aspect ratio of the edifice. Future research, starting from these preliminary evaluations, should be devoted to identifying dike propagation paths and likely locations of vent formation at specific volcanoes, to better aid hazards assessment
Moral disengagement, the dark triad and unethical consumer attitudes

The file associated with this record is embargoed for 24 months from first publication.Purpose:\ud
\ud
Bandura’s theory of moral disengagement explains how otherwise ethical persons can behave immorally. We examined whether a trait model of general personality and the “dark triad” underlay moral disengagement, the relationship these constructs have to unethical consumer attitudes, and whether moral disengagement provided incremental validity in the prediction of antisocial behaviour.\ud
Methods:\ud
\ud
Self-report data were obtained from a community sample of 380 adults via an online survey that administered all measures.\ud
Results:\ud
\ud
Correlations between unethical consumer attitudes, lower Agreeableness, lower Conscientiousness, higher moral disengagement, higher psychopathy, and higher Machiavellianism were captured by a single factor. When this broad factor was examined using regression, demographic, personality and the dark triad traits all predicted moral disengagement, specific influences being age, education, Intellect, psychopathy, and Machiavellianism. A similar model examining predictors of unethical consumer attitudes again found all blocks contributed to the outcome, with specific influence provided by age, Intellect, and moral disengagement, the latter showing incremental validity as a predictor of unethical consumer attitudes.\ud
Conclusions:\ud
\ud
Moral disengagement is based on low Agreeableness, Machiavellianism and psychopathic-type traits, but provides incremental validity in predicting antisocial attitudes to a trait model alone. Narcissism is neither related to moral disengagement, nor unethical consumer attitudes.Peer-reviewedPost-prin
Status of the two-Higgs-doublet model of type II.

We determine the allowed parameter space of the CP-conserving two-Higgs-doublet model (2HDM) of type II with a softly broken Z 2 symmetry. Our analysis includes theoretical constraints from vacuum stability and perturbativity as well as experimental constraints from signal strengths of the 126 GeV Higgs boson, the non-observation of additional Higgs resonances and electroweak precision and flavour observables. If the 126 GeV resonance is interpreted as the light CP-even Higgs boson of the 2HDM our analysis shows that scenarios where the couplings of this boson deviate substantially from those of the SM Higgs boson are disfavoured at one standard deviation and completely excluded for small values of tan β. We also discuss bounds on the masses of the heavy 2HDM Higgs bosons and their implications for the possible decay modes of these particles. We find that the region in which both non-standard neutral Higgs bosons are simultaneously lighter than 300 GeV is excluded at two standard deviations
Housing and the (re)configuration of energy provision in Cape Town and São Paulo : making space for a progressive urban climate politics?

This paper takes as its starting point the argument that infrastructure networks cannot merely be thought of as the backdrop against which climate politics is played out in the city, but are instead fundamental to the ways in which this is conducted. Bringing infrastructure networks into view as a central tenet to the governing of climate change is not simply a matter of recognizing such spheres as critical sites for urban climate policy, but rather requires a conceptual approach that moves beyond a concern with the capacities of individual actors and institutions, and engages with the ways in which power operates and is constituted through the socio-materiality of the city. Drawing on theories of governmentality we develop such an approach and use it to examine the ways in which housing is providing a means through which experimentation with climate governance is taking place in Cape Town and São Paulo. Through this analysis we find that climate change is being mobilized both as a means to create new flows of carbon finance and as a means through which to advance calls for social inclusion and ‘dignified’ housing. Rather than being characterized by one dominant model, we suggest that the governing of climate change in cities in the global South is multiple, combining market and social logics in eclectic ways, where one is not predominant and both are in constant negotiation, dialogue and contestation
Ice streams in the Laurentide Ice Sheet : identification, characteristics and comparison to modern ice sheets.

This paper presents a comprehensive review and synthesis of ice streams in the Laurentide Ice Sheet (LIS) based on a new mapping inventory that includes previously hypothesised ice streams and includes a concerted effort to search for others from across the entire ice sheet bed. The inventory includes 117 ice streams, which have been identified based on a variety of evidence including their bedform imprint, large-scale geomorphology/topography, till properties, and ice rafted debris in ocean sediment records. Despite uncertainty in identifying ice streams in hard bedrock areas, it is unlikely that any major ice streams have been missed. During the Last Glacial Maximum, Laurentide ice streams formed a drainage pattern that bears close resemblance to the present day velocity patterns in modern ice sheets. Large ice streams had extensive onset zones and were fed by multiple tributaries and, where ice drained through regions of high relief, the spacing of ice streams shows a degree of spatial self-organisation which has hitherto not been recognised. Topography exerted a primary control on the location of ice streams, but there were large areas along the western and southern margin of the ice sheet where the bed was composed of weaker sedimentary bedrock, and where networks of ice streams switched direction repeatedly and probably over short time scales. As the ice sheet retreated onto its low relief interior, several ice streams show no correspondence with topography or underlying geology, perhaps facilitated by localised build-up of pressurised subglacial meltwater. They differed from most other ice stream tracks in having much lower length-to-width ratios and have no modern analogues. There have been very few attempts to date the initiation and cessation of ice streams, but it is clear that ice streams switched on and off during deglaciation, rather than maintaining the same trajectory as the ice margin retreated. We provide a first order estimate of changes in ice stream activity during deglaciation and show that around 30% of the margin was drained by ice streams at the LGM (similar to that for present day Antarctic ice sheets), but this decreases to 15% and 12% at 12 cal ka BP and 10 cal ka BP, respectively. The extent to which these changes in the ice stream drainage network represent a simple and predictable readjustment to a changing mass balance driven by climate, or internal ice dynamical feedbacks unrelated to climate (or both) is largely unknown and represents a key area for future work to address
Physics from solar neutrinos in dark matter direct detection experiments.

The next generation of dark matter direct detection experiments will be sensitive to both coherent neutrino-nucleus and neutrino-electron scattering. This will enable them to explore aspects of solar physics, perform the lowest energy measurement of the weak angle to date, and probe contributions from new theories with light mediators. In this article, we compute the projected nuclear and electron recoil rates expected in several dark matter direct detection experiments due to solar neutrinos, and use these estimates to quantify errors on future measurements of the neutrino fluxes, weak mixing angle and solar observables, as well as to constrain new physics in the neutrino sector. Our analysis shows that the combined rates of solar neutrino events in second generation experiments (SuperCDMS and LZ) can yield a measurement of the pp flux to 2.5% accuracy via electron recoil, and slightly improve the 8B flux determination. Assuming a low-mass argon phase, projected tonne-scale experiments like DARWIN can reduce the uncertainty on both the pp and boron-8 neutrino fluxes to below 1%. Finally, we use current results from LUX, SuperCDMS and CDMSlite to set bounds on new interactions between neutrinos and electrons or nuclei, and show that future direct detection experiments can be used to set complementary constraints on the parameter space associated with light mediators
Impact of the first-forbidden beta decay on the production of A = 195 r-process peak

We investigated the effects of first-forbidden transitions in β decays on the production of the r -process A∼195 peak. The theoretical calculated β-decay rates with β-delayed neutron emission were examined using several astrophysical conditions. As the FF decay is dominant in N∼126 neutron-rich nuclei, their inclusion shortens β-decay lifetimes and shifts the abundance peak towards higher masses. Additionally, the inclusion of the β -delayed neutron emission results in a wider abundance peak, and smoothens the mass distribution by removing the odd–even mass staggering. The effects are commonly seen in the results of all adopted astrophysical models. Nevertheless there are quantitative differences, indicating that remaining uncertainty in the determination of half-lives for N=126 nuclei is still significant in order to determine the production of the r-process peak
Stellar 30-keV neutron capture in 94,96Zr and the 90Zr(gamma,n)89Zr
  photonuclear reaction with a high-power liquid-lithium target

A high-power Liquid-Lithium Target (LiLiT) was used for the first time for
neutron production via the thick-target 7Li(p,n)7Be reaction and quantitative
determination of neutron capture cross sections. Bombarded with a 1-2 mA proton
beam at 1.92 MeV from the Soreq Applied Research Accelerator Facility (SARAF),
the setup yields a 30-keV quasi-Maxwellian neutron spectrum with an intensity
of 3-5e10 n/s, more than one order of magnitude larger than present
near-threshold 7Li(p,n) neutron sources. The setup was used here to determine
the 30-keV Maxwellian averaged cross section (MACS) of 94Zr and 96Zr as
28.0+-0.6 mb and 12.4+-0.5 mb respectively, based on activation measurements.
The precision of the cross section determinations results both from the high
neutron yield and from detailed simulations of the entire experimental setup.
We plan to extend our experimental studies to low-abundance and radioactive
targets. In addition, we show here that the setup yields intense high-energy
(17.6 and 14.6 MeV) prompt capture gamma-rays from the 7Li(p,gamma)8Be reaction
with yields of ~3e8 gammas/s/mA and ~4e8 gammas/s/mA, respectively, evidenced
by the 90Zr(gamma,n)89Zr photonuclear reaction.Comment: 20 pages, 5 figure