Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.     

The development of Bi Fe O3-based ceramics

The multiferroic properties of Bi Fe O3-based ceramics were improved through optimizing their sintering method and doping with certain rare earth elements in pure Bi Fe O3. Some methods, especially liquid-phase sintering method has largely decreased the densities of oxygen vacancies and Fe2in Bi Fe O3-based ceramics, and thus their resistivity became high enough to measure the saturated polarization and the large piezoelectric d33 coefficient under the high electric field of [150 k V/cm. Besides,multiferroic properties were improved through the rare earth elements’ doping in pure Bi Fe O3. Magnetization commonly increases with the proportional increase of Nd,La, Sm and Dy contents up to ＊30 %, while ferroelectric phase can transform to paraelectric phase at a certain proportion. An improved magnetoelectric coupling was often observed at ferroelectric phase with a relatively large proportion. Besides, an enhanced piezoelectric coefficient is expected in Bi Fe O3-based ceramics with morphotropic phase boundaries as they are already observed in thin epitaxial Bi Fe O3 films.     

Preparation and characterization of doubly substituted microwave absorbing material by sol-gel technique for super high frequency applications

Rare earth Dy~(3+)and divalent Mn~(2+)elements substituting W-type hexagonal ferrites Ba_(1-x)Dy_xZn_2Fe_(16-y)Mn_yO_(27)(x=0,0.02,0.06,0.1 and y=0,0.1,0.3,0.5)were prepared by sol-gel method.The thermo-gravimetric analysis(TGA)and differential scanning calorimetry(DSC)was carried out to find the temperature at which single phase can be obtained.XRD patterns indicate the presence of the single phase for all the synthesized samples with the absence of any extra peak due to unreacted material and secondary phases.The occurrence of absorption bands at low wave numbers(563 and 446 cm~(-1)),can be assigned to the stretching vibration of metal and oxygen ions in FTIR spectra,which also confirms the single hexagonal phase for prepared material.The grains are of platelet like structure,which enhances the microwave absorption properties of hexagonal ferrites.The synthesized material exhibits the minimum reflection loss of-20.9 dB at 11.8 GHz frequency,which reflects the applications of this material in super high frequency devices.The microwave conductivity of the material increases with frequency.     

Bioactivity analysis of the Ta (V) doped SiO2–CaO–Na2O–P2O5 ceramics prepared by solid state sintering method

The main objective of the study was to control the degradation rate of material at a higher degradation rate improving the chemical stability of the material. Ta is known to have good chemical resistance, biocompatibility and show no adverse biological response. In the present study, SiO2–Na2O–CaO–P2O5 bioceramics with different Ta2O5 contents was prepared by solid state sintering method at 1000 °C. The as-sintered ceramics were subjected to immersion studies in stimulated body fluid (SBF) for 21 days under static condition and characterized by XRD, FTIR, SEM, and AAS. The findings of the research indicate that the addition of Ta2O5 controlled degradability, and all samples showed sufficient bioactivity.     

Abrupt onset of a second energy gap at the superconducting transition of underdoped Bi2212

The superconducting gap--an energy scale tied to the superconducting phenomena--opens on the Fermi surface at the superconducting transition temperature (T(c)) in conventional BCS superconductors. In underdoped high-T(c) superconducting copper oxides, a pseudogap (whose relation to the superconducting gap remains a mystery) develops well above T(c) (refs 1, 2). Whether the pseudogap is a distinct phenomenon or the incoherent continuation of the superconducting gap above T(c) is one of the central questions in high-T(c) research. Although some experimental evidence suggests that the two gaps are distinct, this issue is still under intense debate. A crucial piece of evidence to firmly establish this two-gap picture is still missing: a direct and unambiguous observation of a single-particle gap tied to the superconducting transition as function of temperature. Here we report the discovery of such an energy gap in underdoped Bi2Sr2CaCu2O8+delta in the momentum space region overlooked in previous measurements. Near the diagonal of Cu-O bond direction (nodal direction), we found a gap that opens at T(c) and has a canonical (BCS-like) temperature dependence accompanied by the appearance of the so-called Bogoliubov quasi-particles, a classical signature of superconductivity. This is in sharp contrast to the pseudogap near the Cu-O bond direction (antinodal region) measured in earlier experiments.     

Chemically Synthesised Pt Particles on Surface Oxidized Carbon Nanotubes as an Effective Catalyst for Direct Methanol Fuel Cell

1 Results The synthesis, physical characterization and electrochemical analysis of Pt particles prepared using the surface oxidized carbon nanotubes prepared by chemically anchoring Pt onto the surface of the CNTs with 2.0 mol/L HNO3 by refluxing for 10 h to introduce surface functional groups.The particles of Pt are synthesized by reduction with sodium borohydride of H2PtCl6. The electro-oxidation of liquid methanol of this catalyst as a thin layer on glassy carbon electrode is investigated at room te...     

Nodal quasiparticle in pseudogapped colossal magnetoresistive manganites

A characteristic feature of the copper oxide high-temperature superconductors is the dichotomy between the electronic excitations along the nodal (diagonal) and antinodal (parallel to the Cu-O bonds) directions in momentum space, generally assumed to be linked to the 'd-wave' symmetry of the superconducting state. Angle-resolved photoemission measurements in the superconducting state have revealed a quasiparticle spectrum with a d-wave gap structure that exhibits a maximum along the antinodal direction and vanishes along the nodal direction. Subsequent measurements have shown that, at low doping levels, this gap structure persists even in the high-temperature metallic state, although the nodal points of the superconducting state spread out in finite 'Fermi arcs'. This is the so-called pseudogap phase, and it has been assumed that it is closely linked to the superconducting state, either by assigning it to fluctuating superconductivity or by invoking orders which are natural competitors of d-wave superconductors. Here we report experimental evidence that a very similar pseudogap state with a nodal-antinodal dichotomous character exists in a system that is markedly different from a superconductor: the ferromagnetic metallic groundstate of the colossal magnetoresistive bilayer manganite La1.2Sr1.8Mn2O7. Our findings therefore cast doubt on the assumption that the pseudogap state in the copper oxides and the nodal-antinodal dichotomy are hallmarks of the superconductivity state.     

Evidence for ubiquitous strong electron-phonon coupling in high-temperature superconductors

Coupling between electrons and phonons (lattice vibrations) drives the formation of the electron pairs responsible for conventional superconductivity. The lack of direct evidence for electron-phonon coupling in the electron dynamics of the high-transition-temperature superconductors has driven an intensive search for an alternative mechanism. A coupling of an electron with a phonon would result in an abrupt change of its velocity and scattering rate near the phonon energy. Here we use angle-resolved photoemission spectroscopy to probe electron dynamics-velocity and scattering rate-for three different families of copper oxide superconductors. We see in all of these materials an abrupt change of electron velocity at 50-80 meV, which we cannot explain by any known process other than to invoke coupling with the phonons associated with the movement of the oxygen atoms. This suggests that electron-phonon coupling strongly influences the electron dynamics in the high-temperature superconductors, and must therefore be included in any microscopic theory of superconductivity.     

Induced modi fi cations in the properties of Sr doped BiFeO3 multiferr oics

Multiferroics exhibit unique combination of ferroic properties,simultaneously.For instance,in BiFeO3,magnetic and electric properties co-exist.In this work,BiFeO3 and Sr-doped BiFeO3 samples with general formula,Bi1-x Srx FeO3(x=0.00,0.05,0.10,0.20,and 0.30) were synthesized by sol-gel auto-combustion technique,in order to investigate these ferroic properties.The samples were confrmed to have perovskite type rhombohedral structure,characteristic of BiFeO3.A dilute phase of Bi2Fe4O9was also found in all the Sr-doped samples.The micrographs of the palletized samples revealed that minutely doped Sr might not have any effect on the morphology of the samples.Frequency dependent dielectric measurements were carried out at room temperature for all the samples from 100 Hz to 1 MHz.The dielectric constant of un-doped sample at low frequency was 52 which decreased with increasing Sr doping.An enhancement of magnetic properties was observed with increasing the Sr contents.Pure BiFeO3 material was observed to have the least value of remanent magnetization.As the Sr2+ tions were doped in BiFeO3,its magnetization and remanence were increased to 0.867 emu/g and 0.175 emu/g,respectively,at x=0.30.