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.     

New bibenzyls of the liverwort,Radula variabilis

Summary 3 new bibenzyls having a 7-membered heterocyclic ring have been isolated from the liverwort,Radula variabilis and their structures have been established to be1, 3 and5.     

Are you growing systems thinking managers? Use a systems model to teach and practice organizational analysis and planning,management policy,and organizational development

This paper discusses the use of the Kast and Rosenzweig systems and contingency model for teaching and practice in organizational analysis and planning, management policy, and organizational development. The need for an organizational model for graduate students and field-based managers and executives is identified. The model is presented beginning with the Kast and Rosenzweig work, with integration of research by Daft, Schein, Trist, Deal and Kennedy, Ackoff, Delbecq, and Mintzberg. The teaching and practice uses of the model in four areas are presented, including organizational analysis and planning, management policy making, and organizational development. In each area case examples of the use of the model in teaching and practice are presented. Needs for future research and implications for the use of the model are discussed.     

Effect of free fatty acids and cholesterol in vitro on liver plasma membrane-bound enzymes

Summary The effect of cholesterol and fatty acid treatment in vitro was tested on rat liver plasma membrane-bound enzymes and lipid fluidity. The observed alterations of membrane fluidity affect both (Na⁺–K⁺)-ATPase and Mg²⁺-ATPase activities but not 5-nucleotidase; basal adenylate cyclase as well as its hormonal sensitivity were differentially affected by changes of membrane microenvironment.This investigation was partially supported by the Italian National Research Council.     

The role of repair in radiobiology

Summary Apart from cancer and mutation induction, radiobiological effects on mammals are mostly attributable to cell death, defined as loss of proliferative capacity. Survival curves relate retention of that capacity to radiation dose, and often manifest a quasi-threshold (shoulder). The shoulder is attributable to an initial mechanism of repair (Q-repair) which is gradually depleted as dose increases. Another form of repair, which is not depleted (P-repair), increases the dose required to deliver an average of one lethal event per cell (dose D₀). Neither form of repair can unambiguously be linked with repair of defects in isolated DNA. An important initial lesion may well be disruption of the complex structural relationship between the DNA, nuclear membrane and associated proteins. One form of P-repair may be restoration of that structural relationship.