977 research outputs found
Molecular genetic and functional analyses of X-linked congenital cataract.
Nance-Horan Syndrome (NHS) is an X-linked developmental syndrome characterised by congenital cataract, dental anomalies, and dysmorphological features often associated with mental retardation. The NHS locus on Xp22.13 is encompassed by the disease locus for X- linked congenital cataract (CXN). Analysis of microsatellites within the CXN family resulted in refinement of the CXN disease interval, reducing the region of overlap between the CXN and NHS disease loci. Candidate genes in the overlapping intervals were identified bioinformatically and their genomic structures evaluated. Patient DNA was screened by direct sequencing, resulting in the identification of mutations within a novel gene in four British families with NHS, but not the CXN family. This novel gene, named NHS, is encoded by at least 10 exons transcribed into at least five mRNA isoforms A, B, C, D, and E (encoding a putative 1,630 a.a., 1,335 a.a., 1,474 a.a., 1,453 a.a., and 1,473 a.a. protein, respectively). All mutations identified are truncating and three mutations have been identified in exon 1, which are only expressed in isoform A. This implies that mutations in isoform A are sufficient to cause disease in families with NHS. Functional clues for the NHS protein were investigated resulting in identification of three new genes with significant homology to NHS {lcub}NHS-Like 1 (NHSL1), NHSL2 and NHSL3). All four genes share a conserved genomic structure. Fetal expression analysis of NHS, NHSL1 and NHSL2 suggests that NHSL1 and NHSL2 are more ubiquitous than NHS. Analysis of the NHS family of proteins revealed significant homology to members of the WASP family, which consists of WASP, N-WASP and WAVE 1-3. The WASP protein family play a crucial role in regulating actin dynamics, directly linking small GTPase signalling to actin polymerisation through activation of the Arp2/3 complex. An anti-peptide antibody to the C-terminus of NHS, completely conserved across species, was raised and characterised. A major NHS isoform (approximately 170 kDa) was detected in several cell lines. Subcellular localisation studies in MTLn3 cells showed localization of endogenous NHS to the leading edge of lamellipodia, a localisation pattern reminiscent of the Arp2/3 complex. Endogenous NHS also localised to some actin stress fibres. Homology to the WASP protein family and localisation of endogenous NHS to the leading edge of lamellipods strongly supports a role for NHS in actin cytoskeletal dynamics during development
Supersymmetric Model of Muon Anomalous Magnetic Moment and Neutrino Masses
We propose the novel lepton-number relationship , which
is uniquely realized by the interaction in supersymmetry and may account for a possibly large
muon anomalous magnetic moment. Neutrino masses (with bimaximal mixing) may be
generated from the spontaneous and soft breaking of this lepton symmetry.Comment: 10 pages, including 2 figure
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Free-boundary Full-pressure Island Healing in a Stellarator: Coil-healing
The lack of axisymmetry in stellarators guarantees that in general magnetic islands and chaotic magnetic field lines will exist. As particle transport is strongly tied to the magnetic field lines, magnetic islands and chaotic field lines result in poor plasma confinement. For stellarators to be feasible candidates for fusion power stations it is essential that, to a good approximation, the magnetic field lines lie on nested flux-surfaces, and the suppression of magnetic islands is a critical issue for stellarator coil design, particularly for small aspect ratio devices. A procedure for modifying stellarator coil designs to eliminate magnetic islands in free-boundary full-pressure magnetohydrodynamic equilibria is presented. Islands may be removed from coil-plasma free-boundary equilibria by making small changes to the coil geometry and also by variation of trim coil currents. A plasma and coil design relevant to the National Compact Stellarator Experiment is used to illustrate the technique
Measuring primordial gravitational waves from CMB B-modes in cosmologies with generalized expansion histories
We evaluate our capability to constrain the abundance of primordial tensor
perturbations in cosmologies with generalized expansion histories in the epoch
of cosmic acceleration. Forthcoming satellite and sub-orbital experiments
probing polarization in the CMB are expected to measure the B-mode power in CMB
polarization, coming from PGWs on the degree scale, as well as gravitational
lensing on arcmin scales; the latter is the main competitor for the measurement
of PGWs, and is directly affected by the underlying expansion history,
determined by the presence of a DE component. In particular, we consider early
DE possible scenarios, in which the expansion history is substantially modified
at the epoch in which the CMB lensing is most relevant. We show that the
introduction of a parametrized DE may induce a variation as large as 30% in the
ratio of the power of lensing and PGWs on the degree scale. We find that
adopting the nominal specifications of upcoming satellite measurements the
constraining power on PGWs is weakened by the inclusion of the extra degrees of
freedom, resulting in a reduction of about 10% of the upper limits on r in
fiducial models with no GWs, as well as a comparable increase in the error bars
in models with non-zero r. Moreover, we find that the inclusion of sub-orbital
CMB experiments, capable of mapping the B-mode power up to the angular scales
affected by lensing, can restore the forecasted performances with a
cosmological constant. Finally, we show how the combination of CMB data with
Type Ia SNe, BAO and Hubble constant allows to constrain simultaneously r and
the DE quantities in the parametrization we consider, consisting of present
abundance and first redshift derivative of the energy density. We compare this
study with results obtained using the forecasted lensing potential measurement
precision from CMB satellite observations, finding consistent results.Comment: 17 pages, 9 figures, accepted for publication by JCAP. Modified
version after the referee's comment
Periodic orbit resonances in layered metals in tilted magnetic fields
The frequency dependence of the interlayer conductivity of a layered Fermi
liquid in a magnetic field which is tilted away from the normal to the layers
is considered. For both quasi-one- and quasi-two-dimensional systems resonances
occur when the frequency is a harmonic of the frequency at which the magnetic
field causes the electrons to oscillate on the Fermi surface within the layers.
The intensity of the different harmonic resonances varies significantly with
the direction of the field. The resonances occur for both coherent and weakly
incoherent interlayer transport and so their observation does not imply the
existence of a three-dimensional Fermi surface.Comment: 4 pages, RevTeX + epsf, 2 figures. Discussion of other work revised.
To appear in Phys. Rev. B, Rapid Commun., October 1
Coherent vs incoherent interlayer transport in layered metals
The magnetic-field, temperature, and angular dependence of the interlayer
magnetoresistance of two different quasi-two-dimensional (2D) organic
superconductors is reported. For -(BEDT-TTF)I we find a
well-resolved peak in the angle-dependent magnetoresistance at (field parallel to the layers). This clear-cut proof for the coherent
nature of the interlayer transport is absent for
''-(BEDT-TTF)SFCHCFSO. This and the non-metallic
behavior of the magnetoresistance suggest an incoherent quasiparticle motion
for the latter 2D metal.Comment: 4 pages, 4 figures. Phys. Rev. B, in pres
Lepton Flavour Violation in a Class of Lopsided SO(10) Models
A class of predictive SO(10) grand unified theories with highly asymmetric
mass matrices, known as lopsided textures, has been developed to accommodate
the observed mixing in the neutrino sector. The model class effectively
determines the rate for charged lepton flavour violation, and in particular the
branching ratio for , assuming that the supersymmetric GUT
breaks directly to the constrained minimal supersymmetric standard model
(CMSSM). We find that in light of the combined constraints on the CMSSM
parameters from direct searches and from the WMAP satellite observations, the
resulting predicted rate for in this model class can be
within the current experimental bounds for low , but that the next
generation of experiments would effectively rule out this
model class if LFV is not detected.Comment: 23 page
Magnetic field-dependent interplay between incoherent and Fermi liquid transport mechanisms in low-dimensional tau phase organic conductors
We present an electrical transport study of the 2-dimensional (2D) organic
conductor tau-(P-(S,S)-DMEDT-TTF)_2(AuBr)_2(AuBr_2)_y (y = 0.75) at low
temperatures and high magnetic fields. The inter-plane resistivity rho_zz
increases with decreasing temperature, with the exception of a slight anomaly
at 12 K. Under a magnetic field B, both rho_zz and the in-plane resistivity
plane rho_xx show a pronounced negative and hysteretic magnetoresistance with
Shubnikov de Haas (SdH)oscillations being observed in some (high
quality)samples above 15 T. Contrary to the predicted single, star-shaped,
closed orbit Fermi surface from band structure calculations (with an expected
approximate area of 12.5% of A_FBZ), two fundamental frequencies F_l and F_h
are detected in the SdH signal. These orbits correspond to 2.4% and 6.8% of the
area of the first Brillouin zone(A_FBZ), with effective masses F_l = 4.0 +/-
0.5 and F_h = 7.3 +/- 0.1. The angular dependence, in tilted magnetic fields of
F_l and F_h, reveals the 2D character of the FS and Angular dependent
magnetoresistance (AMRO) further suggests a FS which is strictly 2-D where the
inter-plane hopping t_c is virtually absent or incoherent. The Hall constant
R_xy is field independent, and the Hall mobility increases by a factor of 3
under moderate magnetic fields. Our observations suggest a unique physical
situation where a stable 2D Fermi liquid state in the molecular layers are
incoherently coupled along the least conducting direction. The magnetic field
not only reduces the inelastic scattering between the 2D metallic layers, but
it also reveals the incoherent nature of interplane transport in the AMRO
spectrum. The apparent ferromagnetism of the hysteretic magnetoresistance
remains an unsolved problem.Comment: 33 pages, 11 figure
Lepton Flavor Violating Process in Bi-maximal texture of Neutrino Mixings
We investigate the lepton flavor violation in the framework of the MSSM with
right-handed neutrinos taking the large mixing angle MSW solution in the
quasi-degenerate and the inverse-hierarchical neutrino masses. We predict the
branching ratio of and processes
assuming the degenerate right-handed Majorana neutrino masses. We find that the
branching ratio in the quasi-degenerate neutrino mass spectrum is 100 times
smaller than the ones in the inverse-hierarchical and the hierarchical neutrino
spectra. We emphasize that the magnitude of is one of important
ingredients to predict BR(). The effect of the deviation
from the complete-degenerate right-handed Majorana neutrino masses are also
estimated. Furtheremore, we examine the S_{3\sL}\times S_{3\sR} model, which
gives the quasi-degenerate neutrino masses, and the Shafi-Tavartkiladze model,
which gives the inverse-hierarchical neutrino masses. Both predicted branching
ratios of are smaller than the experimantal bound.Comment: Latex file, 38 pages, 10 figures, revised versio
PTF1 J082340.04+081936.5: A hot subdwarf B star with a low-mass white dwarf companion in an 87-minute orbit
We present the discovery of the hot subdwarf B star (sdB) binary PTF1 J082340.04+081936.5. The system has an orbital period of P orb = 87.49668(1) minutes (0.060761584(10) days), making it the second-most compact sdB binary known. The light curve shows ellipsoidal variations. Under the assumption that the sdB primary is synchronized with the orbit, we find a mass of M sdB = 0.45 +0.09 -0.07 M ⊙ , a companion white dwarf mass of M WD = 0.46 + 0.12 -0.09 M ⊙ , and a mass ratio of q = M WD /M sdB = 1.03 +0.10 -0.08 . The future evolution was calculated using the MESA stellar evolution code. Adopting a canonical sdB mass of M sdB = 0.47 M ⊙ , we find that the sdB still burns helium at the time it will fill its Roche lobe if the orbital period was less than 106 minutes at the exit from the last common envelope (CE) phase. For longer CE exit periods, the sdB will have stopped burning helium and turned into a C/O white dwarf at the time of contact. Comparing the spectroscopically derived log g and T eff with our MESA models, we find that an sdB model with a hydrogen envelope mass of 5 × 10 -4 M ⊙ matches the measurements at a post-CE age of 94 Myr, corresponding to a post-CE orbital period of 109 minutes, which is close to the limit to start accretion while the sdB is still burning helium
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