806 research outputs found

    Further genetic heterogeneity for autosomal dominant human sutural cataracts

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    A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active CRYG genes have been sequenced. A single base-pair change in the CRYGA gene has been shown, leading to a premature stop codon. This was not observed in 170 control individuals. However, it did not segregate with the disease phenotype. This is the first truncating mutation in an active CRYG gene without a dominant phenotype. As the CRYGA mutation did not explain the cataract, several other candidate loci (CCV, GJA8, CRYBB2, BFSP2, MIP, GJA8, central pouch-like, CRYBA1) were investigated by micro-satellite markers and linkage analysis, but they were excluded based on the combination of haplotype analysis and two-point linkage analysis. The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified

    Born-Infeld Type Extension of (Non-)Critical Gravity

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    We consider the Born-Infeld type extension of (non-)critical gravity which is higher curvature gravity on Anti de-Sitter space with specific combinations of scalar curvature and Ricci tensor. This theory may also be viewed as a natural extension of three-dimensional Born-Infeld new massive gravity to arbitrary dimensions. We show that this extension is consistent with holographic cc-theorem and scalar graviton modes are absent in this theory. After showing that ghost modes in the theory can be truncated consistently by appropriate boundary conditions, we argue that the theory is classically equivalent to Einstein gravity at the non-linear level. Black hole solutions are discussed in the view point of the full non-linear classical equivalence between the theory and Einstein gravity. Holographic entanglement entropy in the theory is also briefly commented on.Comment: 1+13 pages, improvements in presentation, references added, accepted to PR

    Roles of dark energy perturbations in the dynamical dark energy models: Can we ignore them?

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    We show the importance of properly including the perturbations of the dark energy component in the dynamical dark energy models based on a scalar field and modified gravity theories in order to meet with present and future observational precisions. Based on a simple scaling scalar field dark energy model, we show that observationally distinguishable substantial differences appear by ignoring the dark energy perturbation. By ignoring it the perturbed system of equations becomes inconsistent and deviations in (gauge-invariant) power spectra depend on the gauge choice.Comment: 5 pages, 4 figure

    The Shape of LITTLE THINGS Dwarf Galaxies DDO 46 and DDO 168: Understanding the stellar and gas kinematics

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    We present the stellar and gas kinematics of DDO 46 and DDO 168 from the LITTLE THINGS survey and determine their respective Vmax/sigma_z,0 values. We used the KPNO's 4-meter telescope with the Echelle spectrograph as a long-slit spectrograph. We acquired spectra of DDO 168 along four position angles by placing the slit over the morphological major and minor axes and two intermediate position angles. However, due to poor weather conditions during our observing run for DDO 46, we were able to extract only one useful data point from the morphological major axis. We determined a central stellar velocity dispersion perpendicular to the disk, sigma_z,0, of 13.5+/-8 km/s for DDO 46 and of 10.7+/-2.9 km/s for DDO 168. We then derived the maximum rotation speed in both galaxies using the LITTLE THINGS HI data. We separated bulk motions from non-circular motions using a double Gaussian decomposition technique and applied a tilted-ring model to the bulk velocity field. We corrected the observed HI rotation speeds for asymmetric drift and found a maximum velocity, Vmax, of 77.4 +/- 3.7 and 67.4 +/- 4.0 km/s for DDO 46 and DDO 168, respectively. Thus, we derived a kinematic measure, Vmax/sigma_z,0, of 5.7 +/- 0.6 for DDO 46 and 6.3 +/- 0.3 for DDO 168. Comparing these values to ones determined for spiral galaxies, we find that DDO 46 and DDO 168 have Vmax/sigma_z,0 values indicative of thin disks, which is in contrast to minor-to-major axis ratio studies

    Evidence for the Coexistence of Anisotropic Superconducting Gap and Nonlocal Effects in the Non-magnetic Superconductor LuNi2B2C

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    A study of the dependence of the heat capacity Cp(alpha) on field angle in LuNi2B2C reveals an anomalous disorder effect. For pure samples, Cp(alpha) exhibits a fourfold variation as the field H < Hc2 is rotated in the [001] plane, with minima along (alpha = 0). A slightly disordered sample, however, develops anomalous secondary minima along for H > 1 T, leading to an 8-fold pattern. The anomalous pattern is discussed in terms of coexisting superconducting gap anisotropy and non-local effects.Comment: 5 pages, 4 figure

    Vertical beaming of wavelength-scale photonic crystal resonators

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    We report that >80> 80% of the photons generated inside a photonic crystal slab resonator can be funneled within a small divergence angle of ±30\pm 30^\circ. The far-field radiation properties of a photonic crystal slab resonant mode are modified by tuning the cavity geometry and by placing a reflector below the cavity. The former method directly shapes the near-field distribution so as to achieve directional and linearly-polarized far-field patterns. The latter modification takes advantage of the interference effect between the original waves and the reflected waves to enhance the energy-directionality. We find that, regardless of the slab thickness, the optimum distance between the slab and the reflector closely equals one wavelength of the resonance under consideration. We have also discussed an efficient far-field simulation algorithm based on the finite-difference time-domain method and the near- to far-field transformation.Comment: 14 pages, 15 figures, submitted to Phys. Rev.
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