255 research outputs found
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean grey cattle
During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle
Basin-scale biogeography of marine phytoplankton reflects cellular-scale optimization of metabolism and physiology
Extensive microdiversity within Prochlorococcus, the most abundant marine cyanobacterium, occurs at scales from a single droplet of seawater to ocean basins. To interpret the structuring role of variations in genetic potential, as well as metabolic and physiological acclimation, we developed a mechanistic constraint-based modeling framework that incorporates the full suite of genes, proteins, metabolic reactions, pigments, and biochemical compositions of 69 sequenced isolates spanning the Prochlorococcus pangenome. Optimizing each strain to the local, observed physical and chemical environment along an Atlantic Ocean transect, we predicted variations in strain-specific patterns of growth rate, metabolic configuration, and physiological state, defining subtle niche subspaces directly attributable to differences in their encoded metabolic potential. Predicted growth rates covaried with observed ecotype abundances, affirming their significance as a measure of fitness and inferring a nonlinear density dependence of mortality. Our study demonstrates the potential to interpret global-scale ecosystem organization in terms of cellular-scale processes
Limit on the Radiative Neutrinoless Double Electron Capture of Ar from GERDA Phase I
Neutrinoless double electron capture is a process that, if detected, would
give evidence of lepton number violation and the Majorana nature of neutrinos.
A search for neutrinoless double electron capture of Ar has been
performed with germanium detectors installed in liquid argon using data from
Phase I of the GERmanium Detector Array (GERDA) experiment at the Gran Sasso
Laboratory of INFN, Italy. No signal was observed and an experimental lower
limit on the half-life of the radiative neutrinoless double electron capture of
Ar was established: 3.6 10 yr at 90 % C.I.Comment: 7 pages, 3 figure
Shape modeling technique KOALA validated by ESA Rosetta at (21) Lutetia
We present a comparison of our results from ground-based observations of
asteroid (21) Lutetia with imaging data acquired during the flyby of the
asteroid by the ESA Rosetta mission. This flyby provided a unique opportunity
to evaluate and calibrate our method of determination of size, 3-D shape, and
spin of an asteroid from ground-based observations. We present our 3-D
shape-modeling technique KOALA which is based on multi-dataset inversion. We
compare the results we obtained with KOALA, prior to the flyby, on asteroid
(21) Lutetia with the high-spatial resolution images of the asteroid taken with
the OSIRIS camera on-board the ESA Rosetta spacecraft, during its encounter
with Lutetia. The spin axis determined with KOALA was found to be accurate to
within two degrees, while the KOALA diameter determinations were within 2% of
the Rosetta-derived values. The 3-D shape of the KOALA model is also confirmed
by the spectacular visual agreement between both 3-D shape models (KOALA pre-
and OSIRIS post-flyby). We found a typical deviation of only 2 km at local
scales between the profiles from KOALA predictions and OSIRIS images, resulting
in a volume uncertainty provided by KOALA better than 10%. Radiometric
techniques for the interpretation of thermal infrared data also benefit greatly
from the KOALA shape model: the absolute size and geometric albedo can be
derived with high accuracy, and thermal properties, for example the thermal
inertia, can be determined unambiguously. We consider this to be a validation
of the KOALA method. Because space exploration will remain limited to only a
few objects, KOALA stands as a powerful technique to study a much larger set of
small bodies using Earth-based observations.Comment: 15 pages, 8 figures, 2 tables, accepted for publication in P&S
Multiplicities of charged pions and unidentified charged hadrons from deep-inelastic scattering of muons off an isoscalar target
Multiplicities of charged pions and unidentified hadrons produced in
deep-inelastic scattering were measured in bins of the Bjorken scaling variable
, the relative virtual-photon energy and the relative hadron energy .
Data were obtained by the COMPASS Collaboration using a 160 GeV muon beam and
an isoscalar target (LiD). They cover the kinematic domain in the photon
virtuality > 1(GeV/c, , and . In addition, a leading-order pQCD analysis was performed using the
pion multiplicity results to extract quark fragmentation functions
Model-independent evidence for contributions to decays
The data sample of decays acquired with the
LHCb detector from 7 and 8~TeV collisions, corresponding to an integrated
luminosity of 3 fb, is inspected for the presence of or
contributions with minimal assumptions about
contributions. It is demonstrated at more than 9 standard deviations that
decays cannot be described with
contributions alone, and that contributions play a dominant role in
this incompatibility. These model-independent results support the previously
obtained model-dependent evidence for charmonium-pentaquark
states in the same data sample.Comment: 21 pages, 12 figures (including the supplemental section added at the
end
Quantum numbers of the state and orbital angular momentum in its decay
Angular correlations in decays, with , and , are used to measure
orbital angular momentum contributions and to determine the value of
the meson. The data correspond to an integrated luminosity of 3.0
fb of proton-proton collisions collected with the LHCb detector. This
determination, for the first time performed without assuming a value for the
orbital angular momentum, confirms the quantum numbers to be .
The is found to decay predominantly through S wave and an upper limit
of at C.L. is set on the fraction of D wave.Comment: 16 pages, 4 figure
Mixed connective tissue disease: state of the art on clinical practice guidelines
Mixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/dermatomyositis and systemic lupus erythematous in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle. In this narrative review, we summarise the results of a systematic literature research which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. Since no specific CPGs on MCTD were found, other CPGs developed for other CTDs were taken into consideration in order to discuss what can be applied to MCTD even if designed for other diseases. Three major objectives were proposed for the future development of CPGs: MCTD diagnosis (diagnostic criteria), MCTD initial and follow-up evaluations, MCTD treatment. Early diagnosis, epidemiological data, assessment of burden of disease and QOL aspects are among the unmet needs identified by patient
Expected Performance of the ATLAS Experiment - Detector, Trigger and Physics
A detailed study is presented of the expected performance of the ATLAS
detector. The reconstruction of tracks, leptons, photons, missing energy and
jets is investigated, together with the performance of b-tagging and the
trigger. The physics potential for a variety of interesting physics processes,
within the Standard Model and beyond, is examined. The study comprises a series
of notes based on simulations of the detector and physics processes, with
particular emphasis given to the data expected from the first years of
operation of the LHC at CERN
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