188 research outputs found
Determinant representation for some transition probabilities in the TASEP with second class particles
We study the transition probabilities for the totally asymmetric simple
exclusion process (TASEP) on the infinite integer lattice with a finite, but
arbitrary number of first and second class particles. Using the Bethe ansatz we
present an explicit expression of these quantities in terms of the Bethe wave
function. In a next step it is proved rigorously that this expression can be
written in a compact determinantal form for the case where the order of the
first and second class particles does not change in time. An independent
geometrical approach provides insight into these results and enables us to
generalize the determinantal solution to the multi-class TASEP.Comment: Minor revision; journal reference adde
Concentration Dependence of Superconductivity and Order-Disorder Transition in the Hexagonal Rubidium Tungsten Bronze RbxWO3. Interfacial and bulk properties
We revisited the problem of the stability of the superconducting state in
RbxWO3 and identified the main causes of the contradictory data previously
published. We have shown that the ordering of the Rb vacancies in the
nonstoichiometric compounds have a major detrimental effect on the
superconducting temperature Tc.The order-disorder transition is first order
only near x = 0.25, where it cannot be quenched effectively and Tc is reduced
below 1K. We found that the high Tc's which were sometimes deduced from
resistivity measurements, and attributed to compounds with .25 < x < .30, are
to be ascribed to interfacial superconductivity which generates spectacular
non-linear effects. We also clarified the effect of acid etching and set more
precisely the low-rubidium-content boundary of the hexagonal phase.This work
makes clear that Tc would increase continuously (from 2 K to 5.5 K) as we
approach this boundary (x = 0.20), if no ordering would take place - as its is
approximately the case in CsxWO3. This behaviour is reminiscent of the
tetragonal tungsten bronze NaxWO3 and asks the same question : what mechanism
is responsible for this large increase of Tc despite the considerable
associated reduction of the electron density of state ? By reviewing the other
available data on these bronzes we conclude that the theoretical models which
are able to answer this question are probably those where the instability of
the lattice plays a major role and, particularly, the model which call upon
local structural excitations (LSE), associated with the missing alkali atoms.Comment: To be published in Physical Review
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Background
Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five. Given association analysis data alone cannot determine the most plausible risk gene for this locus, we undertook a comprehensive suite of in silico, in vivo and in vitro studies to address this.
Methods
The Functional Mapping and Annotation (FUMA) pipeline and five tools (conditional and joint analysis (GCTA-COJO), Stratified Linkage Disequilibrium Score Regression (S-LDSC), Polygenic Priority Scoring (PoPS), Summary-based Mendelian Randomisation (SMR-HEIDI) and transcriptome-wide association study (TWAS) analyses) were used to perform bioinformatic integration of GWAS data (Ncases = 20,806, Ncontrols = 59,804) with âomics reference datasets including the blood (eQTLgen consortium N = 31,684) and brain (N = 2581). This was followed up by specific expression studies in ALS case-control cohorts (microarray Ntotal = 942, protein Ntotal = 300) and gene knockdown (KD) studies of human neuronal iPSC cells and zebrafish-morpholinos (MO).
Results
SMR analyses implicated both TNIP1 and GPX3 (p < 1.15 Ă 10â6), but there was no simple SNP/expression relationship. Integrating multiple datasets using PoPS supported GPX3 but not TNIP1. In vivo expression analyses from blood in ALS cases identified that lower GPX3 expression correlated with a more progressed disease (ALS functional rating score, p = 5.5 Ă 10â3, adjusted R2 = 0.042, Beffect = 27.4 ± 13.3âng/ml/ALSFRS unit) with microarray and protein data suggesting lower expression with risk allele (recessive model p = 0.06, p = 0.02 respectively). Validation in vivo indicated gpx3 KD caused significant motor deficits in zebrafish-MO (mean difference vs. control ± 95% CI, vs. control, swim distance = 112 ± 28âmm, time = 1.29 ± 0.59 s, speed = 32.0 ± 2.53âmm/s, respectively, p for all <â0.0001), which were rescued with gpx3 expression, with no phenotype identified with tnip1 KD or gpx3 overexpression.
Conclusions
These results support GPX3 as a lead ALS risk gene in this locus, with more data needed to confirm/reject a role for TNIP1. This has implications for understanding disease mechanisms (GPX3 acts in the same pathway as SOD1, a well-established ALS-associated gene) and identifying new therapeutic approaches. Few previous examples of in-depth investigations of risk loci in ALS exist and a similar approach could be applied to investigate future expected GWAS findings
An analytical biomarker for treatment of patients with recurrent B-ALL after remission induced by infusion of anti-CD19 chimeric antigen receptor T (CAR-T) cells
Mastite subclĂnica e relação da contagem de cĂ©lulas somĂĄticas com nĂșmero de lactaçÔes, produção e composição quĂmica do leite em vacas da raça Holandesa
Dinùmica da celularidade do colostro de vacas da raça Holandesa no pós-parto imediato
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patientsâ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy
Measurement of the cross section for isolated-photon plus jet production in pp collisions at âs=13 TeV using the ATLAS detector
The dynamics of isolated-photon production in association with a jet in protonâproton collisions at a centre-of-mass energy of 13 TeV are studied with the ATLAS detector at the LHC using a dataset with an integrated luminosity of 3.2 fbâ1. Photons are required to have transverse energies above 125 GeV. Jets are identified using the anti- algorithm with radius parameter and required to have transverse momenta above 100 GeV. Measurements of isolated-photon plus jet cross sections are presented as functions of the leading-photon transverse energy, the leading-jet transverse momentum, the azimuthal angular separation between the photon and the jet, the photonâjet invariant mass and the scattering angle in the photonâjet centre-of-mass system. Tree-level plus parton-shower predictions from Sherpa and Pythia as well as next-to-leading-order QCD predictions from Jetphox and Sherpa are compared to the measurements
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