De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.     

Torsional Models of Two - ply Yarn

In this paper,the vector equation of a generaliseddoubly wound helix was derived.Treloar's pliedyarn geometry could be obtained as a special case ofthe generalised doubly wound helix.The shortest fi-bre length around the surface of a helical tube(formed by fibre helices)was determined by apply-ing variational principles.The fibre length as calcu-lated by using Treloar's geometry was compared in-directly with the shortest possible fibre length at dif-ferent levels of yarn deformation when some of Tre-loar's rigid geometrical constraints were relaxed.Anew idea based on non-concentric circles was intro-duced to approximate the fibre helix movement in atwo-ply yarn.A torsional model of two-ply yarnwas developed and the theoretical predictions werecompared with some preliminary experimental re-sults.     

利用杀菌剂防治松萎蔫病

松萎蔫病是一种非常复杂的病害。据报道,松材线虫(Bursaphelenchus xylophilus)及其携带的细菌诱导了该病,但是对于细菌的的作用尚存争议。笔者筛选出杀细菌剂进行了温室和林间防治松萎蔫病的实验。利用每株3年生赤松(Pinus densiflora)注射3 mg的恶喹酸,松萎蔫病防效达到71 %。利用恶喹酸或阿维菌素及两者混合物对大约20年生赤松的试验表明,3种处理均显示了很高的防效。以上结果证明伴生细菌是诱导松萎蔫病的必要因素,对松萎蔫病可利用杀细菌剂或杀细菌剂与杀线剂混合物进行防控。     

An Approach to Share Architectural Drawing Information and Document Information for Automated Code Checking System

The purpose of this study is to suggest a way of optimized managing and sharing information between standard architectural drawings and construction documents in Korea architectural industry for automated code checking system by linked STEP and XML. To archive this purpose, the authors have analyzed current research and technical development for STEP and XML link and developed a prototype system for sharing information between model based drawings and XML based construction documents. Finally, the authors have suggested practical use scenario of sharing information through linked STEP and XML using test case of automatic code checking. In the paper, the possibility of constructing integrated architectural computing environment through exchange and sharing of drawing information and external data for the whole building life-cycle, from the conceptual design stage to the construction and maintenance stage has been examined. Automated code checking through linked STEP and XML could be enhanced through col-laboration business, more completed code, improved building performance, and reduced construction costs.     

Functional genomics in the rice blast fungus to unravel the fungal pathogenicity

A rapidly growing number of successful genome sequencing projects in plant pathogenic fungi greatly increase the demands for tools and methodologies to study fungal pathogenicity at genomic scale. Magnaporthe oryzae is an economically important plant pathogenic fungus whose genome is fully sequenced. Recently we have reported the development and application of functional genomics platform technologies in M. oryzae. This model approach would have many practical ramifications in design and implementation of upcoming functional genomics studies of filamentous fungi aimed at understanding fungal pathogenicity.     

Simple nanofabrication of a superhydrophobic and transparent biomimetic surface

This paper describes a simple fabrication method for creating superhydrophobic and transparent glass surfaces that mimic natural surfaces such as lotus leaves, moth eyes or cicada wings. Nanostructured glass surfaces were created by a combination of colloidal lithography and plasma etching. A colloidal mask was formed simply by the spin coating of the polystyrene beads and with modification of the interparticle distance between the beads. The etching of the glasses was conducted by CF4 plasma. Tower-shaped nanostructures at an aspect ratio of 1：4 were treated using fluoroalkylsilane selfassembled monolayers （SAMs） to obtain the hydrophobic surfaces. The treated glass surfaces showed superhydrophobicity with a water contact angle of around 150° and a hexadecane contact angle of around 110° Furthermore, the nanostructured glass was transparent to visible light.     

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

Substitutions of single glycine residues of alpha 1(I) collagen have previously been associated with the inherited disease osteogenesis imperfecta type II. Transgenic mice bearing a mutant alpha 1(I) collagen gene into which specific glycine substitutions have been engineered show a dominant lethal phenotype characteristic of the human disease, and demonstrate that as little as 10% mutant gene expression can disrupt normal collagen function.