1,405 research outputs found
Analysis of resonance multipoles from polarization observables in eta photoproduction
A combined analysis of new eta photoproduction data for total and
differential cross sections, target asymmetry and photon asymmetry is
presented. Using a few reasonable assumptions we perform the first
model-independent analysis of the E0+, E2- and M2- eta photoproduction
multipoles. Making use of the well-known A3/2 helicity amplitude of the
D13(1520) state we extract its branching ratio to the eta-N channel,
Gamma(eta,N)/Gamma = (0.08 +- 0.01)%. At higher energies, we show that the
photon asymmetry is extremely sensitive to small multipoles that are excited by
photons in the helicity 3/2 state. The new GRAAL photon asymmetry data at
higher energy show a clear signal of the F15(1680) excitation which permits
extracting an F15(1680)->eta,N branching ratio of (0.15 +0.35 -0.10)%.Comment: 14 pages of LATEX including 7 postscript figure
Loss of AP-3 function affects spontaneous and evoked release at hippocampal mossy fiber synapses
Synaptic vesicle (SV) exocytosis mediating neurotransmitter release occurs
spontaneously at low intraterminal calcium concentrations and is stimulated by
a rise in intracellular calcium. Exocytosis is compensated for by the
reformation of vesicles at plasma membrane and endosomes. Although the adaptor
complex AP-3 was proposed to be involved in the formation of SVs from
endosomes, whether its function has an indirect effect on exocytosis remains
unknown. Using mocha mice, which are deficient in functional AP-3, we identify
an AP-3-dependent tetanus neurotoxin-resistant asynchronous release that can be
evoked at hippocampal mossy fiber (MF) synapses. Presynaptic targeting of the
tetanus neurotoxin-resistant vesicle soluble N-ethylmaleimide-sensitive factor
attachment protein receptor (SNARE) tetanus neurotoxin-insensitive
vesicle-associated membrane protein (TI-VAMP) is lost in mocha hippocampal MF
terminals, whereas the localization of synaptobrevin 2 is unaffected. In
addition, quantal release in mocha cultures is more frequent and more sensitive
to sucrose. We conclude that lack of AP-3 results in more constitutive
secretion and loss of an asynchronous evoked release component, suggesting an
important function of AP-3 in regulating SV exocytosis at MF terminals
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses
Numerical study of linear and circular model DNA chains confined in a slit: metric and topological properties
Advanced Monte Carlo simulations are used to study the effect of nano-slit
confinement on metric and topological properties of model DNA chains. We
consider both linear and circularised chains with contour lengths in the
1.2--4.8 m range and slits widths spanning continuously the 50--1250nm
range. The metric scaling predicted by de Gennes' blob model is shown to hold
for both linear and circularised DNA up to the strongest levels of confinement.
More notably, the topological properties of the circularised DNA molecules have
two major differences compared to three-dimensional confinement. First, the
overall knotting probability is non-monotonic for increasing confinement and
can be largely enhanced or suppressed compared to the bulk case by simply
varying the slit width. Secondly, the knot population consists of knots that
are far simpler than for three-dimensional confinement. The results suggest
that nano-slits could be used in nano-fluidic setups to produce DNA rings
having simple topologies (including the unknot) or to separate heterogeneous
ensembles of DNA rings by knot type.Comment: 12 pages, 10 figure
Gas Gain Uniformity Tests performed on Multi Wire Proportional Chambers for the LHCb Muon System
We present the experimental setup and the results of the gas gain uniformity tests performed as part of the quality control of the multiwire proportional chambers produced at CERN for the LHCb Muon system. The test provides a relative gas gain measurement over the whole chamber sensitive area. It is based on the analysis of the pulse height spectrum obtained when the chamber is exposed to {a^241}Am radioactive source. Since the measurement is normalized to the peak of a precise pulse generator, the gain uniformity can also be evaluated among different gas gaps and different chambers
The helicity amplitudes A and A for the D resonance obtained from the reaction}
The helicity dependence of the reaction
has been measured for the first time in the photon energy range from 550 to 790
MeV. The experiment, performed at the Mainz microtron MAMI, used a
4-detector system, a circularly polarized, tagged photon beam, and a
longitudinally polarized frozen-spin target. These data are predominantly
sensitive to the resonance and are used to determine its
parameters.Comment: 5 pages, 4 figure
Experimental determination of the complete spin structure for anti-proton + proton -> anti-\Lambda + \Lambda at anti-proton beam momentum of 1.637 GeV/c
The reaction anti-proton + proton -> anti-\Lambda + \Lambda -> anti-proton +
\pi^+ + proton + \pi^- has been measured with high statistics at anti-proton
beam momentum of 1.637 GeV/c. The use of a transversely-polarized frozen-spin
target combined with the self-analyzing property of \Lambda/anti-\Lambda decay
allows access to unprecedented information on the spin structure of the
interaction. The most general spin-scattering matrix can be written in terms of
eleven real parameters for each bin of scattering angle, each of these
parameters is determined with reasonable precision. From these results all
conceivable spin-correlations are determined with inherent self-consistency.
Good agreement is found with the few previously existing measurements of spin
observables in anti-proton + proton -> anti-\Lambda + \Lambda near this energy.
Existing theoretical models do not give good predictions for those
spin-observables that had not been previously measured.Comment: To be published in Phys. Rev. C. Tables of results (i.e. Ref. 24) are
available at http://www-meg.phys.cmu.edu/~bquinn/ps185_pub/results.tab 24
pages, 16 figure
Results of the MWPC gas gain uniformity tests performed at CERN
We present the results of the gas gain uniformity tests performed as part of the quality control of the multiwire proportional chambers produced at CERN for the LHCb Muon system, along with a description of the last hardware and software upgrades. The test provides a relative gas gain measurement over the whole chamber sensitive area. It is based on the analysis of the spectrum obtained when the chamber is exposed to a Am radioactive source. Since the measurement is normalized to the peak of a precise pulse generator, the gain uniformity can also be evaluated among different gas gaps and different chambers
First measurement of the Gerasimov-Drell-Hearn integral for Hydrogen from 200 to 800 MeV
A direct measurement of the helicity dependence of the total photoabsorption
cross section on the proton was carried out at MAMI (Mainz) in the energy range
200 < E_gamma < 800 MeV. The experiment used a 4 detection system, a
circularly polarized tagged photon beam and a frozen spin target.
The contributions to the Gerasimov-Drell-Hearn sum rule and to the forward
spin polarizability determined from the data are 226 \pm 5 (stat)\pm
12(sys) \mu b and -187 \pm 8 (stat)\pm 10(sys)10^{-6} fm^4, respectively, for
200 < E_\gamma < 800 MeV.Comment: 6 pages, 3 figures, 3 table
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