10,484 research outputs found
Characterization of cell cycle phase-based microRNAs in pluripotency and differentiation
published_or_final_versio
Statistical Signatures of Photon Localization
The realization that electron localization in disordered systems (Anderson
localization) is ultimately a wave phenomenon has led to the suggestion that
photons could be similarly localized by disorder. This conjecture attracted
wide interest because the differences between photons and electrons - in their
interactions, spin statistics, and methods of injection and detection - may
open a new realm of optical and microwave phenomena, and allow a detailed study
of the Anderson localization transition undisturbed by the Coulomb interaction.
To date, claims of three-dimensional photon localization have been based on
observations of the exponential decay of the electromagnetic wave as it
propagates through the disordered medium. But these reports have come under
close scrutiny because of the possibility that the decay observed may be due to
residual absorption, and because absorption itself may suppress localization.
Here we show that the extent of photon localization can be determined by a
different approach - measurement of the relative size of fluctuations of
certain transmission quantities. The variance of relative fluctuations
accurately reflects the extent of localization, even in the presence of
absorption. Using this approach, we demonstrate photon localization in both
weakly and strongly scattering quasi-one-dimensional dielectric samples and in
periodic metallic wire meshes containing metallic scatterers, while ruling it
out in three-dimensional mixtures of aluminum spheres.Comment: 5 pages, including 4 figure
Conservative and disruptive modes of adolescent change in human brain functional connectivity
Adolescent changes in human brain function are not entirely understood. Here, we used multiecho functional MRI (fMRI) to measure developmental change in functional connectivity (FC) of resting-state oscillations between pairs of 330 cortical regions and 16 subcortical regions in 298 healthy adolescents scanned 520 times. Participants were aged 14 to 26 y and were scanned on 1 to 3 occasions at least 6 mo apart. We found 2 distinct modes of age-related change in FC: âconservativeâ and âdisruptive.â Conservative development was characteristic of primary cortex, which was strongly connected at 14 y and became even more connected in the period from 14 to 26 y. Disruptive development was characteristic of association cortex and subcortical regions, where connectivity was remodeled: connections that were weak at 14 y became stronger during adolescence, and connections that were strong at 14 y became weaker. These modes of development were quantified using the maturational index (MI), estimated as Spearmanâs correlation between edgewise baseline FC (at 14 y, FC14) and adolescent change in FC (ÎFC14â26), at each region. Disruptive systems (with negative MI) were activated by social cognition and autobiographical memory tasks in prior fMRI data and significantly colocated with prior maps of aerobic glycolysis (AG), AG-related gene expression, postnatal cortical surface expansion, and adolescent shrinkage of cortical thickness. The presence of these 2 modes of development was robust to numerous sensitivity analyses. We conclude that human brain organization is disrupted during adolescence by remodeling of FC between association cortical and subcortical areas
Silk physico-chemical variability and mechanical robustness facilitates intercontinental invasibility of a spider.
There are substantive problems associated with invasive species, including threats to endemic organisms and biodiversity. Understanding the mechanisms driving invasions is thus critical. Variable extended phenotypes may enable animals to invade into novel environments. We explored here the proposition that silk variability is a facilitator of invasive success for the highly invasive Australian house spider, Badumna longinqua. We compared the physico-chemical and mechanical properties and underlying gene expressions of its major ampullate (MA) silk between a native Sydney population and an invasive counterpart from Montevideo, Uruguay. We found that while differential gene expressions might explain the differences in silk amino acid compositions and protein nanostructures, we did not find any significant differences in silk mechanical properties across the populations. Our results accordingly suggest that B. longinqua's silk remains functionally robust despite underlying physico-chemical and genetic variability as the spider expands its range across continents. They also imply that a combination of silk physico-chemical plasticity combined with mechanical robustness might contribute more broadly to spider invasibilities
Testing matter effects in propagation of atmospheric and long-baseline neutrinos
We quantify our current knowledge of the size and flavor structure of the
matter effects in the evolution of atmospheric and long-baseline neutrinos
based solely on the analysis of the corresponding neutrino data. To this aim we
generalize the matter potential of the Standard Model by rescaling its
strength, rotating it away from the e-e sector, and rephasing it with respect
to the vacuum term. This phenomenological parametrization can be easily
translated in terms of non-standard neutrino interactions in matter. We show
that in the most general case, the strength of the potential cannot be
determined solely by atmospheric and long-baseline data. However its flavor
composition is very much constrained and the present determination of the
neutrino masses and mixing is robust under its presence. We also present an
update of the constraints arising from this analysis in the particular case in
which no potential is present in the e-mu and e-tau sectors. Finally we
quantify to what degree in this scenario it is possible to alleviate the
tension between the oscillation results for neutrinos and antineutrinos in the
MINOS experiment and show the relevance of the high energy part of the spectrum
measured at MINOS.Comment: PDFLaTeX file using JHEP3 class, 25 pages, 7 figures included.
Accepted for publication in JHE
Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScanÂź arrays
Posters: Genome Structure, Variation and Function: abstract no. 552TStructural variation has been recognized as a genetic risk factor contributing to human diseases, and in particular, congenital disorders. Smaller scale copy number variations (CNVs) have also been linked to a number of neurodevelopmental phenotypes, including intellectual disability as well as autism spectrum disorders. The precise detection of CNVs is therefore necessary for ...postprin
Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population
Background Hirschsprung's disease (HSCR) is a congenital disorder associated with the lack of intramural ganglion cells in the myenteric and sub-mucosal plexuses along varying segments of the gastrointestinal tract. The RET gene is the major gene implicated in this gastrointestinal disease. A highly recurrent mutation in RET (RETR114H) has recently been identified in ~6-7% of the Chinese HSCR patients which, to date, has not been found in Caucasian patients or controls nor in Chinese controls. Due to the high frequency of RETR114H in this population, we sought to investigate whether this mutation may be a founder HSCR mutation in the Chinese population. Methodology and Principal Findings To test whether all RETR114H were originated from a single mutational event, we predicted the approximate age of RETR114H by applying a Bayesian method to RET SNPs genotyped in 430 Chinese HSCR patients (of whom 25 individuals had the mutation) to be between 4-23 generations old depending on growth rate. We reasoned that if RETR114H was a founder mutation then those with the mutation would share a haplotype on which the mutation resides. Including SNPs spanning 509.31 kb across RET from a recently obtained 500 K genome-wide dataset for a subset of 181 patients (14 RETR114H patients), we applied haplotype estimation methods to determine whether there were any segments shared between patients with RETR114H that are not present in those without the mutation or controls. Analysis yielded a 250.2 kb (51 SNP) shared segment over the RET gene (and downstream) in only those patients with the mutation with no similar segments found among other patients. Conclusions This suggests that RETR114H is a founder mutation for HSCR in the Chinese population. © 2010 Cornes et al.published_or_final_versio
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
published_or_final_versio
Cost effective assay choice for rare disease study designs
High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue. We have developed a framework for assay choice that maximises the number of true disease causing mechanisms âseenâ, given limited resources. Although straightforward, some of the ramifications of our methodology run counter to received wisdom on study design. We illustrate our methodology with examples, and have built a website allowing calculation of quantities of interest to those designing rare disease studies.published_or_final_versio
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