389 research outputs found
Phenotypic Variation in FAM83H- associated Amelogenesis Imperfecta
FAM83H gene mutations are associated with autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by enamel having normal thickness and a markedly decreased mineral content. This study tested the hypothesis that there are phenotype and genotype associations in families with FAM83H-associated ADHCAI. Seven families segregating ADHCAI (147 individuals) were evaluated. Phenotyping included clinical, radiographic, histological, and biochemical studies, and genotyping was by mutational analysis. Multiple novel FAM83H mutations were identified, including two 2-bp-deletion mutations, the first non-nonsense mutations identified. Craniofacial deviation from normal was more prevalent in the affected individuals. Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized ADHCAI phenotype, while those having mutations capable of producing a protein of at least 694 amino acids had a unique and previously unreported phenotype affecting primarily the cervical enamel. This investigation shows that unique phenotypes are associated with specific FAM83H mutations
Universal Scaling of Strong-Field Localization in an Integer Quantum Hall Liquid
We study the Landau level localization and scaling properties of a disordered
two-dimensional electron gas in the presence of a strong external magnetic
field. The impurities are treated as random distributed scattering centers with
parameterized potentials. Using a transfer matrix for a finite-width strip
geometry, we calculate the localization length as a function of system size and
electron energy. The finite-size localization length is determined by
calculating the Lyapunov exponents of the transfer matrix. A detailed
finite-size scaling analysis is used to study the critical behavior near the
center of the Landau bands. The influence of varying the impurity
concentration, the scattering potential range and its nature, and the Landau
level index on the scaling behavior and on the critical exponent is
systematically investigated. Particular emphasis is put on studying the effects
of finite range of the disorder potential and Landau level coupling on the
quantum localization behavior. Our numerical results, which are carried out on
systems much larger than those studied before, indicate that pure
-function disorder in the absence of any Landau level coupling gives
rise to non-universal localization properties with the critical exponents in
the lowest two Landau levels being substantially different. Inclusion of a
finite potential range and/or Landau level mixing may be essential in producing
universality in the localization.Comment: 28 pages, Latex, 17 figures (available upon request), #phd0
The Amelogenin C-Terminus Is Required for Enamel Development
The abundant amelogenin proteins are responsible for generating proper enamel thickness and structure, and most amelogenins include a conserved hydrophilic C-terminus. To evaluate the importance of the C-terminus, we generated transgenic mice that express an amelogenin lacking the C-terminal 13 amino acids (CTRNC). MicroCT analysis of TgCTRNC29 teeth (low transgene number) indicated that molar enamel density was similar to that of wild-type mice, but TgCTRNC18 molar enamel (high transgene number) was deficient, indicating that extra transgene copies were associated with a more severe phenotype. When amelogenin-null (KO) and TgCTRNC transgenic mice were mated, density and volume of molar enamel from TgCTRNCKO offspring were not different from those of KO mice, indicating that neither TgCTRNC18 nor TgCTRNC29 rescued enamel’s physical characteristics. Because transgenic full-length amelogenin partially rescues both density and volume of KO molar enamel, it was concluded that the amelogenin C-terminus is essential for proper enamel density, volume, and organization
Metal-insulator transition in two-dimensional disordered systems with power-law transfer terms
We investigate a disordered two-dimensional lattice model for noninteracting
electrons with long-range power-law transfer terms and apply the method of
level statistics for the calculation of the critical properties. The
eigenvalues used are obtained numerically by direct diagonalization. We find a
metal-insulator transition for a system with orthogonal symmetry. The exponent
governing the divergence of the correlation length at the transition is
extracted from a finite size scaling analysis and found to be . The critical eigenstates are also analyzed and the distribution of the
generalized multifractal dimensions is extrapolated.Comment: 4 pages with 4 figures, printed version: PRB, Rapid Communication
Comparison of three wet-alkaline methods of digestion of biogenic silica in water
Methods for determination of low levels of biogenic silica (0.2–0.4 mg SiO 2 ) in aqueous samples after digestion with three wetalkaline extraction procedures compared favourably in both precision of replicates and recovery of silica utilized by diatoms in budgeted cultures. Leaching samples with 0.2 M NaOH for 10–15 min at 100°C was the least time consuming procedure. Also interference from silicate minerals was lower for this method than leaching with either 0.5 or 5% Na 2 CO 3 for 2 h at 85°C. The use of filters to concentrate samples enables detection of low levels of biogenic silica with colorimetric procedures. Polycarbonate filters are recommended in preference to cellulose acetate or polyvinyl chloride filters for sample collection. Time-course experiments are recommended for establishing digestion times and determining the presence of mineral silicate interference. Wet-alkaline digestion methods are recommended for routine analysis of biogenic silica in suspended matter in preference to infra-red analysis, alkaline fusion and hydrofluoric acid/nitric acid methods.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/74725/1/j.1365-2427.1983.tb00658.x.pd
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
Background Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearance from skeletal muscle in treatment-naïve adults after ERT have not been extensively examined. Methods This exploratory, open-label, multicenter study evaluated glycogen clearance in muscle tissue samples collected pre- and post- alglucosidase alfa treatment in treatment-naïve adults with late-onset Pompe disease. The primary endpoint was the quantitative reduction in percent tissue area occupied by glycogen in muscle biopsies from baseline to 6 months. Secondary endpoints included qualitative histologic assessment of tissue glycogen distribution, secondary pathology changes, assessment of magnetic resonance images (MRIs) for intact muscle and fatty replacement, and functional assessments. Results Sixteen patients completed the study. After 6 months of ERT, the percent tissue area occupied by glycogen in quadriceps and deltoid muscles decreased in 10 and 8 patients, respectively. No changes were detected on MRI from baseline to 6 months. A majority of patients showed improvements on functional assessments after 6 months of treatment. All treatment-related adverse events were mild or moderate. Conclusions This exploratory study provides novel insights into the histopathologic effects of ERT in late-onset Pompe disease patients. Ultrastructural examination of muscle biopsies demonstrated reduced lysosomal glycogen after ERT. Findings are consistent with stabilization of disease by ERT in treatment-naïve patients with late-onset Pompe disease
Observation of Scaling Violations in Scaled Momentum Distributions at HERA
Charged particle production has been measured in deep inelastic scattering
(DIS) events over a large range of and using the ZEUS detector. The
evolution of the scaled momentum, , with in the range 10 to 1280
, has been investigated in the current fragmentation region of the Breit
frame. The results show clear evidence, in a single experiment, for scaling
violations in scaled momenta as a function of .Comment: 21 pages including 4 figures, to be published in Physics Letters B.
Two references adde
D* Production in Deep Inelastic Scattering at HERA
This paper presents measurements of D^{*\pm} production in deep inelastic
scattering from collisions between 27.5 GeV positrons and 820 GeV protons. The
data have been taken with the ZEUS detector at HERA. The decay channel
(+ c.c.) has been used in the study. The
cross section for inclusive D^{*\pm} production with
and is 5.3 \pms 1.0 \pms 0.8 nb in the kinematic region
{ GeV and }. Differential cross
sections as functions of p_T(D^{*\pm}), and are
compared with next-to-leading order QCD calculations based on the photon-gluon
fusion production mechanism. After an extrapolation of the cross section to the
full kinematic region in p_T(D^{*\pm}) and (D^{*\pm}), the charm
contribution to the proton structure function is
determined for Bjorken between 2 10 and 5 10.Comment: 17 pages including 4 figure
Search for direct production of charginos and neutralinos in events with three leptons and missing transverse momentum in √s = 7 TeV pp collisions with the ATLAS detector
A search for the direct production of charginos and neutralinos in final states with three electrons or muons and missing transverse momentum is presented. The analysis is based on 4.7 fb−1 of proton–proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with Standard Model expectations in three signal regions that are either depleted or enriched in Z-boson decays. Upper limits at 95% confidence level are set in R-parity conserving phenomenological minimal supersymmetric models and in simplified models, significantly extending previous results
Jet size dependence of single jet suppression in lead-lead collisions at sqrt(s(NN)) = 2.76 TeV with the ATLAS detector at the LHC
Measurements of inclusive jet suppression in heavy ion collisions at the LHC
provide direct sensitivity to the physics of jet quenching. In a sample of
lead-lead collisions at sqrt(s) = 2.76 TeV corresponding to an integrated
luminosity of approximately 7 inverse microbarns, ATLAS has measured jets with
a calorimeter over the pseudorapidity interval |eta| < 2.1 and over the
transverse momentum range 38 < pT < 210 GeV. Jets were reconstructed using the
anti-kt algorithm with values for the distance parameter that determines the
nominal jet radius of R = 0.2, 0.3, 0.4 and 0.5. The centrality dependence of
the jet yield is characterized by the jet "central-to-peripheral ratio," Rcp.
Jet production is found to be suppressed by approximately a factor of two in
the 10% most central collisions relative to peripheral collisions. Rcp varies
smoothly with centrality as characterized by the number of participating
nucleons. The observed suppression is only weakly dependent on jet radius and
transverse momentum. These results provide the first direct measurement of
inclusive jet suppression in heavy ion collisions and complement previous
measurements of dijet transverse energy imbalance at the LHC.Comment: 15 pages plus author list (30 pages total), 8 figures, 2 tables,
submitted to Physics Letters B. All figures including auxiliary figures are
available at
http://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/HION-2011-02
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