Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.     

等离子喷涂铁基非晶/晶体复合涂层的工艺–结构–性能关系

本研究试图通过优化等离子喷涂参数来开发一种Fe基非晶/晶体涂层,该涂层主要成分来自一种贫乏的铁基合金（Fe_92.6C_3.5P_1.4Si₂Mn_0.5）。这种合金是钢铁厂高炉产出的生铁剩余废料。为了经济有效地重新利用这种残留物,这种合金在合成时对成分进行了最少的修改。同时,本研究还探讨了涂层的结构、机械、腐蚀和磨损性能对喷涂参数（等离子功率、主气体流速、送粉速度和间隔距离）的依赖性。X射线衍射表明,在最优的喷涂参数下沉积的涂层存在无定形/晶体相。在较低等离子功率和最高气体流速下沉积的涂层表现出更好的密度、硬度和耐磨性。所有涂层都表现出良好的耐腐蚀性（腐蚀环境:3.5wt% NaCl 溶液）。机械、磨损和摩擦学研究表明,单一的工艺参数优化无法提供良好的涂层性能;相反,所有工艺参数在优化涂层性能都具有独一无二的作用,它们主要通过控制飞行中的颗粒温度和速度分布,以及熔滴撞击基材之前的冷却模式来控制涂层性能。     

Detection and imaging of atmospheric radio flashes from cosmic ray air showers

The nature of ultrahigh-energy cosmic rays (UHECRs) at energies >10(20) eV remains a mystery. They are likely to be of extragalactic origin, but should be absorbed within approximately 50 Mpc through interactions with the cosmic microwave background. As there are no sufficiently powerful accelerators within this distance from the Galaxy, explanations for UHECRs range from unusual astrophysical sources to exotic string physics. Also unclear is whether UHECRs consist of protons, heavy nuclei, neutrinos or gamma-rays. To resolve these questions, larger detectors with higher duty cycles and which combine multiple detection techniques are needed. Radio emission from UHECRs, on the other hand, is unaffected by attenuation, has a high duty cycle, gives calorimetric measurements and provides high directional accuracy. Here we report the detection of radio flashes from cosmic-ray air showers using low-cost digital radio receivers. We show that the radiation can be understood in terms of the geosynchrotron effect. Our results show that it should be possible to determine the nature and composition of UHECRs with combined radio and particle detectors, and to detect the ultrahigh-energy neutrinos expected from flavour mixing.     

High-energy ion treatments of amorphous As40Se60 thin films for optical applic ations

The treatment of 100 MeV Ag swift-heavy ion(SHI) irradiation with five different fluences(3 1010, 1 1011, 3 1011, 1 1012, and3 1012ions/cm2) was used to design optical and structural properties of amorphous(a-) As40Se60 chalcogenide thin films. Swanepoel method was applied on transmission measurements to determine the changes in optical bandgap, Tauc parameter and linear optical parameters, i.e., linear optical absorption, extinction coefficient and linear refractive index. Dispersion of the material was determined by Wemple–DiDomenico relation.Changes in nonlinear optical parameters of third-order optical susceptibility and nonlinear refractive index were determined using semi-empirical relations. Changes in surface morphology of the films were investigated using SEM observation, which indicated that fluence 3 1012ions/cm2was upper threshold limit for these films for ion treatment. It is observed that optical bandgap reduces from 1.76 eV to 1.64 eV, and nonlinear refractive index increases from 1.31 10 10[esu] to 1.74 10 10[esu]. Linear refractive index initially increases from 2.80 to 3.52(for fluence3 1010ions/cm2) and then keeps decreasing. The observed changes in optical properties upon irradiation were explained in terms of structural rearrangements by Raman measurement. The study was compiled with the previous literature to propose SHI as an effective optical engineering technique to achieve desired changes according to the need of optical/photonic applications.     

Photo-induced optical changes in GexAs40Se60-x thin films

Ge-As-Se chalcogenide thin films show a wide range of photosensitivity, which is utilized for the fabrication of micro-optical elements for integrated optics. The photosensitivity of GexAs40Se60?x(x=0,15) chalcogenide thin films for UV light was presented. For that purpose, the bulk samples of GexAs40Se60?x(x=0,15) chalcogenide glasses were prepared using conventional melt quenching technique, and thin films were prepared using thermal evaporation technique. These thin films were exposed to UV light for two hours. Amorphous natures of bulk samples and thin films were verified by XRD and chemical compositions were verified by EDX measurements. The thicknesses of the thin films were measured using a thickness profilometer. Linear optical analysis of these thin films was done using transmission spectra in wavelength range of 300?900 nm. Optical bandgap was determined by first peak of transmission derivative as well as extrapol ation of Tauc’s plot. R2 analysis was done using R software to ensure that the material is indirect bandgap material. It is observed that two hours UV exposure causes photo-darkening along with photo-expansion in As40Se60 thin films, while photo-bleach ing and photo-densification for Ge15As40Se45 thin films. However, the amounts of photo-induced optical changes for Ge15As40Se45 thin films are smaller than those for As40Se60 thin films. The changes in optical absorption, bandgap and thickness are understood base d on the bonding rearrangement caused by UV exposure.     

Optimality Conditions and Duality for Nondifferentiable Multiobjective Semi-Infinite Programming Problems with Generalized(C,α,ρ,d)-Convexity

This paper obtains sufficient optimality conditions for a nonlinear nondifferentiable multiobjective semi-infinite programming problem involving generalized(C,α,ρ,d)-convex functions.The authors formulate Mond-Weir-type dual model for the nonlinear nondifferentiable multiobjective semiinfinite programming problem and establish weak,strong and strict converse duality theorems relating the primal and the dual problems.     

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

CLN3 is an endosomal/lysosomal transmembrane protein mutated in classical juvenile onset neuronal ceroid lipofuscinosis, a fatal inherited neurodegenerative lysosomal storage disorder. The function of CLN3 in endosomal/lysosomal events has remained elusive due to poor understanding of its interactions in these compartments. It has previously been shown that the localisation of late endosomal/lysosomal compartments is disturbed in cells expressing the most common disease-associated CLN3 mutant, CLN3?ex7-8 (c.462-677del). We report here that a protracted disease causing mutant, CLN3E295K, affects the properties of late endocytic compartments, since over-expression of the CLN3E295K mutant protein in HeLa cells induced relocalisation of Rab7 and a perinuclear clustering of late endosomes/lysosomes. In addition to the previously reported disturbances in the endocytic pathway, we now show that the anterograde transport of late endosomal/lysosomal compartments is affected in CLN3 deficiency. CLN3 interacted with motor components driving both plus and minus end microtubular trafficking: tubulin, dynactin, dynein and kinesin-2. Most importantly, CLN3 was found to interact directly with active, guanosine-5'-triphosphate (GTP)-bound Rab7 and with the Rab7-interacting lysosomal protein (RILP) that anchors the dynein motor. The data presented in this study provide novel insights into the role of CLN3 in late endosomal/lysosomal membrane transport.     

Linear and nonlinear optical changes in amorphous As2Se3 thin film upon UV exposure

Amorphous As_2Se_3 chalcogenide thin film was exposed to UV light(i line and g line) using mercury lamp for 30 min. XRD,UV/VIS spectroscopy and thickness measurements were taken for unexposed and exposed thin film for structural and optical characterizations.Linear optical constants(linear refractive index,extinction coefficient and linear optical absorption coefficient) of the film were calculated from transmission spectra using Swanepoel method.Optical bandgap was determined using Tauc's relation of in...