Functional modelling of a novel mutation in BBS5.

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties, obesity and male hypogonadism. RESULTS: We describe the clinical phenotype in three Saudi siblings in whom we have identified a novel mutation in exon 12 of BBS5 (c.966dupT; p.Ala323CysfsX57). This single nucleotide duplication creates a frame shift results in a predicted elongated peptide. Translation blocking Morpholino oligonucleotides were used to create zebrafish bbs5 morphants. Morphants displayed retinal layering defects, abnormal cardiac looping and dilated, cystic pronephric ducts with reduced cilia expression. Morphants also displayed significantly reduced dextran clearance via the pronephros compared to wildtype embryos, suggesting reduced renal function in morphants. The eye, kidney and heart defects reported in morphant zebrafish resemble the human phenotype of BBS5 mutations. The pathogenicity of the novel BBS5 mutation was determined. Mutant mRNA was unable to rescue pleiotropic phenotypes of bbs5 morphant zebrafish and in cell culture we demonstrate a mislocalisation of mutant BBS5 protein which fails to localise discretely with the basal body. CONCLUSIONS: We conclude that this novel BBS5 mutation has a deleterious function that accounts for the multisystem ciliopathy phenotype seen in affected human patients

Nariai, Bertotti-Robinson and anti-Nariai solutions in higher dimensions

We find all the higher dimensional solutions of the Einstein-Maxwell theory that are the topological product of two manifolds of constant curvature. These solutions include the higher dimensional Nariai, Bertotti-Robinson and anti-Nariai solutions, and the anti-de Sitter Bertotti-Robinson solutions with toroidal and hyperbolic topology (Plebanski-Hacyan solutions). We give explicit results for any dimension D>3. These solutions are generated from the appropriate extremal limits of the higher dimensional near-extreme black holes in a de Sitter, and anti-de Sitter backgrounds. Thus, we also find the mass and the charge parameters of the higher dimensional extreme black holes as a function of the radius of the degenerate horizon.Comment: 10 pages, 11 figures, RevTeX4. References added. Published versio

How well can the LHC distinguish between the SM light Higgs scenario, a composite Higgs and the Higgsless case using VV scattering channels?

A complete parton level analysis of ll + four jets l = e,mu and 3lv + two jets production at the LHC is presented, including all processes at order \ordEW, \ordQCD and \ordQCDsq when appropriate. The infinite Higgs mass scenario, which is considered as a benchmark for strong scattering theories and is the limiting case for composite Higgs models, and one example of a model incorporating a Strongly Interacting Light Higgs are confronted with the Standard Model light Higgs predictions. This analysis is combined with the results in the lv + four jets channel presented in a previous paper, in order to determine whether a composite Higgs signal can be detected as an excess of events in boson--boson scattering.Comment: Introduced some representative Feynman diagrams. Rearranged section 4. Typos fixed. Published in JHE

The little flavons

Fermion masses and mixing matrices can be described in terms of spontaneously broken (global or gauge) flavor symmetries. We propose a little-Higgs inspired scenario in which an SU(2)xU(1) gauge flavor symmetry is spontaneously (and completely) broken by the vacuum of the dynamically induced potential for two scalar doublets (the flavons) which are pseudo-Goldstone bosons remaining after the spontaneous breaking--at a scale between 10 and 100 TeV--of an approximate SU(6) global symmetry. The vacuum expectation values of the flavons give rise to the texture in the fermion mass matrices. We discuss in detail the case of leptons. Light-neutrino masses arise by means of a see-saw-like mechanism that takes place at the same scale at which the SU(6) global symmetry is broken. We show that without any fine tuning of the parameters the experimental values of the charged-lepton masses,the neutrino square mass differences and the Pontecorvo-Maki-Nakagawa-Sakata mixing matrix are reproduced.Comment: 13 pages, revTeX4. Version to be published in PR

Dark Energy and Matter in 4 Dimensions From an Empty Kaluza-Klein Spacetime

We consider the third order Lovelock equations without the cosmological constant term in an empty $n(\geq 8)$-dimensional Kaluza-Klein spacetime $\mathcal{M}^{4}\times \mathcal{K}^{n-4}$, where $\mathcal{K}^{n-4}$ is a constant curvature space. We show that the emptiness of the higher-dimensional spacetime imposes a constraint on the metric function(s) of 4-dimensional spacetime $\mathcal{M}^{4}$. We consider the effects of this constraint equation in the context of black hole physics, and find a black hole solution in 4 dimensions in the absence of matter field and the cosmological constant (dark energy). This solution has the same form as the 4-dimensional solution introduced in [H. Maeda and N. Dadhich, Phys. Rev. D 74 (2006) 021501(R)] for Gauss-Bonnet gravity in the presence of cosmological constant, and therefore the metric of $\mathcal{M}^{4}$ which satisfies the vacuum Lovelock equations in higher-dimensional Kaluza-Klein spacetime is unique. This black hole solution shows that the curvature of an empty higher-dimensional Kaluza-Klein spacetime creates dark energy and matter with non-traceless energy-momentum tensor in 4 dimensions.Comment: 11 pages, two figure

Fermion Masses and Mixings in the Little Flavon Model

We present a complete analysis of the fermion masses and mixing matrices in the framework of the little flavon model. In this model textures are generated by coupling the fermions to scalar fields, the little flavons, that are pseudo-Goldstone bosons of the breaking of a global SU(6) symmetry. The Yukawa couplings arise from the vacuum expectation values of the flavon fields, their sizes controlled by a potential a la Coleman-Weinberg. Quark and lepton mass hierarchies and mixing angles are accomodated within the effective approach in a natural manner.Comment: 11 pages, RevTeX4, version to appear on Phys. Rev.

Comparative study of the chemical composition and anti-proliferative activities of the aerial parts and roots of Apium graveolens L. (celery) and their biogenic nanoparticles

Apiaceae plants are multipurpose folk remedies and bioactive foods that show a remarkable ability to biosynthesize a large number of secondary metabolites with antitumor and chemopreventive potential. Among the various members of the Apiaceae, celery (Apium graveolens L.) has long been used as a popular edible and medicinal plant owing to its plentiful health benefits and nutraceutical properties; however, the anticancer potential of this important species has been seldom studied, mostly focusing on its seeds. Therefore, this work was designed to delve into the chemical composition and anti-proliferative potential of the total ethanolic extracts of the aerial parts (TEEAGA) and roots (TEEAGR) of A. graveolens var. dulce (Mill.) Pers. as well as their green synthesized silver nanoparticles (AgNPs). In general, both TEEAGA and TEEAGR exhibited moderate to potent inhibitory activities against human liver (HepG-2), colon (Caco-2), and breast (MCF-7) cancer cell lines, with interesting IC50 profiles [(41.37 ± 0.12, 27.65 ± 0.27, and 9.48 ± 0.04 μg/mL) and (11.58 ± 0.02, 7.13 ± 0.03, and 6.58 ± 0.02 μg/mL), respectively] as compared with doxorubicin, while more pronounced anti-proliferative effects were observed for their biogenic AgNPs, which showed IC50 values ranging between 25.41 ± 0.16 and 1.37 ± 0.03 μg/mL. Moreover, HPLC‒HESI‒HRMS-based metabolomics analysis of both extracts showed the presence of a varied group of secondary metabolites, including flavonoids, phenylpropanoids, phthalides, coumarins, and sesquiterpenes that further displayed moderate to promising binding affinities to the active site of cyclin G-associated kinase (GAK), particularly graveobioside A, graveobioside B, and celeroside C, suggesting their possible contribution as GAK modulators to the anti-proliferative potential of celery. These findings can help broaden future research on the utilization of different parts of celery and their NPs as functional foods and medicines in cancer chemoprevention and therapy

Observational Constraints on Dark Radiation in Brane Cosmology

We analyze the observational constraints on brane-world cosmology whereby the universe is described as a three-brane embedded in a five-dimensional anti-de Sitter space. In this brane-universe cosmology, the Friedmann equation is modified by the appearance of extra terms which derive from existence of the extra dimensions. In the present work we concentrate on the ``dark radiation'' term which diminishes with cosmic scale factor as $a^{-4}$. We show that, although the observational constraints from primordial abundances allow only a small contribution when this term is positive, a much wider range of negative values is allowed. Furthermore, such a negative contribution can reconcile the tension between the observed primordial \he4 and D abundances. We also discuss the possible constraints on this term from the power spectrum of CMB anisotropies in the limit of negligible cosmological perturbation on the brane world. We show that BBN limits the possible contribution from dark radiation just before the nucleosynthesis epoch to lie between -65% and $+5$ of the background photon energy density. Combining this with the CMB constraint reduces this range to between -24% and $+3.5$ at the $2\sigma$ confidence level.Comment: 6 pages, 3 figures, submitted to PRD; this version includes the referee's suggestions, updated references, and an improved treatment of BBN model uncertaintie

PYTHIA 6.4 Physics and Manual

The PYTHIA program can be used to generate high-energy-physics `events', i.e. sets of outgoing particles produced in the interactions between two incoming particles. The objective is to provide as accurate as possible a representation of event properties in a wide range of reactions, within and beyond the Standard Model, with emphasis on those where strong interactions play a role, directly or indirectly, and therefore multihadronic final states are produced. The physics is then not understood well enough to give an exact description; instead the program has to be based on a combination of analytical results and various QCD-based models. This physics input is summarized here, for areas such as hard subprocesses, initial- and final-state parton showers, underlying events and beam remnants, fragmentation and decays, and much more. Furthermore, extensive information is provided on all program elements: subroutines and functions, switches and parameters, and particle and process data. This should allow the user to tailor the generation task to the topics of interest.Comment: 576 pages, no figures, uses JHEP3.cls. The code and further information may be found on the PYTHIA web page: http://www.thep.lu.se/~torbjorn/Pythia.html Changes in version 2: Mistakenly deleted section heading for "Physics Processes" reinserted, affecting section numbering. Minor updates to take into account referee comments and new colour reconnection option

Measurement of the dijet invariant mass cross section in proton anti-proton collisions at sqrt{s} = 1.96 TeV

The inclusive dijet production double differential cross section as a function of the dijet invariant mass and of the largest absolute rapidity of the two jets with the largest transverse momentum in an event is measured in proton anti-proton collisions at sqrt{s} = 1.96 TeV using 0.7 fb^{-1} integrated luminosity collected with the D0 detector at the Fermilab Tevatron Collider. The measurement is performed in six rapidity regions up to a maximum rapidity of 2.4. Next-to-leading order perturbative QCD predictions are found to be in agreement with the data.Comment: Published in Phys. Lett. B, 693, (2010), 531-538, 8 pages, 2 figures, 6 table