A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome

Snyder-Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. It is caused by a significant decrease or loss of spermine synthase (SMS) activity. Here, we report a new missense mutation, p.Y328C (c.1084A>G), in SMS in a family with XLID. The affected males available for evaluation had mild ID, speech and global delay, an asthenic build, short stature with long fingers and mild kyphosis. The spermine/spermidine ratio in lymphoblasts was 0.53, significantly reduced compared with normal (1.87 average). Activity analysis of SMS in the index patient failed to detect any activity above background. In silico modeling demonstrated that the Y328C mutation has a significant effect on SMS stability, resulting in decreased folding free energy and larger structural fluctuations compared with those of wild-type SMS. The loss of activity was attributed to the increase in conformational dynamics in the mutant which affects the active site geometry, rather than preventing dimer formation. Taken together, the biochemical and in silico studies confirm the p.Y328C mutation in SMS is responsible for the patients having a mild form of SRS and reveal yet another molecular mechanism resulting in a non-functional SMS causing SRS

Acceleration of bouncing balls in external fields

We introduce two models, the Fermi-Ulam model in an external field and a one dimensional system of bouncing balls in an external field above a periodically oscillating plate. For both models we investigate the possibility of unbounded motion. In a special case the two models are equivalent

Radio Observations of the Hubble Deep Field South Region III: The 2.5, 5.2 and 8.7 GHz Catalogues and Radio Source Properties

Deep radio observations of a wide region centred on the Hubble Deep Field South have been performed, providing one of the most sensitive set of radio observations acquired on the Australia Telescope Compact Array to date. A central rms of ~10 microJy is reached at four frequencies (1.4, 2.5, 5.2 and 8.7 GHz). In this paper the full source catalogues from the 2.5, 5.2 and 8.7 GHz observations are presented to complement Paper II, along with a detailed analysis of image quality and noise. We produce a consolidated catalogue by matching sources across all four frequencies of our survey. Radio spectral indices are used to investigate the nature of the radio sources and identify a number of sources with flat or inverted radio spectra, which indicates AGN activity. We also find several other interesting sources, including a broadline emitting radio galaxy, a giant radio galaxy and three Gigahertz Peaked Spectrum sources.Comment: Accepted by AJ. 13 figures and 13 table

Hysteretic characteristics of a double stripline in the critical state

Analytical investigations of the critical state are carried out for a superconducting stripline consisting of two individual coplanar strips with an arbitrary distance between them. Two different cases are considered: a stripline with transport current and strips exposed to a perpendicular magnetic field. In the second case, the obtained solutions correspond to "fieldlike" (for unclosed strips) and "currentlike" (for a long rectangular superconducting loop) states in an isolated strip to which both a transport current and a magnetic field are applied with constant ratio.Comment: 8 pages, 6 figures. accepted by SS

A pseudopotential study of electron-hole excitations in colloidal, free-standing InAs quantum dots

Excitonic spectra are calculated for free-standing, surface passivated InAs quantum dots using atomic pseudopotentials for the single-particle states and screened Coulomb interactions for the two-body terms. We present an analysis of the single particle states involved in each excitation in terms of their angular momenta and Bloch-wave parentage. We find that (i) in agreement with other pseudopotential studies of CdSe and InP quantum dots, but in contrast to k.p calculations, dot states wavefunction exhibit strong odd-even angular momentum envelope function mixing (e.g. $s$ with $p$) and large valence-conduction coupling. (ii) While the pseudopotential approach produced very good agreement with experiment for free-standing, colloidal CdSe and InP dots, and for self-assembled (GaAs-embedded) InAs dots, here the predicted spectrum does {\em not} agree well with the measured (ensemble average over dot sizes) spectra. (1) Our calculated excitonic gap is larger than the PL measure one, and (2) while the spacing between the lowest excitons is reproduced, the spacings between higher excitons is not fit well. Discrepancy (1) could result from surface states emission. As for (2), agreement is improved when account is taken of the finite size distribution in the experimental data. (iii) We find that the single particle gap scales as $R^{-1.01}$ (not $R^{-2}$), that the screened (unscreened) electron-hole Coulomb interaction scales as $R^{-1.79}$ ($R^{-0.7}$), and that the eccitonic gap sclaes as $R^{-0.9}$. These scaling laws are different from those expected from simple models.Comment: 12 postscript figure

Exploring the Universe with Metal-Poor Stars

The early chemical evolution of the Galaxy and the Universe is vital to our understanding of a host of astrophysical phenomena. Since the most metal-poor Galactic stars (with metallicities down to [Fe/H]\sim-5.5) are relics from the high-redshift Universe, they probe the chemical and dynamical conditions of the Milky Way and the origin and evolution of the elements through nucleosynthesis. They also provide constraints on the nature of the first stars, their associated supernovae and initial mass function, and early star and galaxy formation. The Milky Way's dwarf satellites contain a large fraction (~30%) of the known most metal-poor stars that have chemical abundances that closely resemble those of equivalent halo stars. This suggests that chemical evolution may be universal, at least at early times, and that it is driven by massive, energetic SNe. Some of these surviving, ultra-faint systems may show the signature of just one such PopIII star; they may even be surviving first galaxies. Early analogs of the surviving dwarfs may thus have played an important role in the assembly of the old Galactic halo whose formation can now be studied with stellar chemistry. Following the cosmic evolution of small halos in simulations of structure formation enables tracing the cosmological origin of the most metal-poor stars in the halo and dwarf galaxies. Together with future observations and additional modeling, many of these issues, including the reionization history of the Milky Way, may be constrained this way. The chapter concludes with an outlook about upcoming observational challenges and ways forward is to use metal-poor stars to constrain theoretical studies.Comment: 34 pages, 11 figures. Book chapter to appear in "The First Galaxies - Theoretical Predictions and Observational Clues", 2012 by Springer, eds. V. Bromm, B. Mobasher, T. Wiklin

COLA II - Radio and Spectroscopic Diagnostics of Nuclear Activity in Galaxies

We present optical spectroscopic observations of 93 galaxies taken from the infra-red selected COLA (Compact Objects in Low Power AGN) sample. The sample spans the range of far-IR luminosities from normal galaxies to LIRGs. Of the galaxies observed, 78 (84%) exhibit emission lines. Using a theoretically-based optical emission-line scheme we classify 15% of the emission-line galaxies as Seyferts, 77% as starbursts, and the rest are either borderline AGN/starburst or show ambiguous characteristics. We find little evidence for an increase in the fraction of AGN in the sample as a function of far-IR luminosity but our sample covers only a small range in infrared luminosity and thus a weak trend may be masked. As a whole the Seyfert galaxies exhibit a small, but significant, radio excess on the radio-FIR correlation compared to the galaxies classified as starbursts. Compact (<0.05'') radio cores are detected in 55% of the Seyfert galaxies, and these galaxies exhibit a significantly larger radio excess than the Seyfert galaxies in which cores were not detected. Our results indicate that there may be two distinct populations of Seyferts, ``radio-excess'' Seyferts, which exhibit extended radio structures and compact radio cores, and ``radio-quiet'' Seyferts, in which the majority of the radio emission can be attributed to star-formation in the host galaxy. No significant difference is seen between the IR and optical spectroscopic properties of Seyferts with and without radio cores. (Abridged)Comment: 24 pages, 4 figures, 6 tables. Accepted for publication in ApJ, February 200

Current density inhomogeneity throughout the thickness of superconducting films and its effect on their irreversible magnetic properties

We calculate the distribution of the current density $j$ in superconducting films along the direction of an external field applied perpendicular to the film plane. Our analysis reveals that in the presence of bulk pinning $j$ is inhomogeneous on a length scale of order the inter vortex distance. This inhomogeneity is significantly enhanced in the presence of surface pinning. We introduce new critical state model, which takes into account the current density variations throughout the film thickness, and show how these variations give rise to the experimentally observed thickness dependence of $$ and magnetic relaxation rate.Comment: RevTex, 9 PS figures. To appear in Phys. Rev.

Critical State Flux Penetration and Linear Microwave Vortex Response in YBa_2Cu_3O_{7-x} Films

The vortex contribution to the dc field (H) dependent microwave surface impedance Z_s = R_s+iX_s of YBa_2Cu_3O_{7-x} thin films was measured using suspended patterned resonators. Z_s(H) is shown to be a direct measure of the flux density B(H) enabling a very precise test of models of flux penetration. Three regimes of field-dependent behavior were observed: (1) Initial flux penetration occurs on very low field scales H_i(4.2K) 100Oe, (2) At moderate fields the flux penetration into the virgin state is in excellent agreement with calculations based upon the field-induced Bean critical state for thin film geometry, parametrized by a field scale H_s(4.2K) J_c*d 0.5T, (3) for very high fields H >>H_s, the flux density is uniform and the measurements enable direct determination of vortex parameters such as pinning force constants \alpha_p and vortex viscosity \eta. However hysteresis loops are in disagreement with the thin film Bean model, and instead are governed by the low field scale H_i, rather than by H_s. Geometric barriers are insufficient to account for the observed results.Comment: 20 pages, LaTeX type, Uses REVTeX style files, Submitted to Physical Review B, 600 dpi PostScript file with high resolution figures available at http://sagar.physics.neu.edu/preprints.htm

Multi-phonon Raman scattering in semiconductor nanocrystals: importance of non-adiabatic transitions

Multi-phonon Raman scattering in semiconductor nanocrystals is treated taking into account both adiabatic and non-adiabatic phonon-assisted optical transitions. Because phonons of various symmetries are involved in scattering processes, there is a considerable enhancement of intensities of multi-phonon peaks in nanocrystal Raman spectra. Cases of strong and weak band mixing are considered in detail. In the first case, fundamental scattering takes place via internal electron-hole states and is participated by s- and d-phonons, while in the second case, when the intensity of the one-phonon Raman peak is strongly influenced by the interaction of an electron and of a hole with interface imperfections (e. g., with trapped charge), p-phonons are most active. Calculations of Raman scattering spectra for CdSe and PbS nanocrystals give a good quantitative agreement with recent experimental results.Comment: 16 pages, 2 figures, E-mail addresses: [email protected], [email protected], [email protected], accepted for publication in Physical Review