We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

This article offers a thorough analysis of the unintended impact economic sanctions have on political repression—referred to in this study as the level of the government respect for democratic freedoms and human rights. We argue that economic coercion is a counterproductive policy tool that reduces the level of political freedoms in sanctioned countries. Instead of coercing the sanctioned regime into reforming itself, sanctions inadvertently enhance the regime’s coercive capacity and create incentives for the regime’s leadership to commit political repression. Cross-national (...) time series data support our argument, confirming that the continued use of economic sanctions (even when aimed at promoting political liberalization and respect for human rights) will increase the level of political repression. These findings suggest that both scholars and policy makers should pay more attention to the externalities caused by economic coercion. (shrink)

Avoiding whinges from various and potentially conflicting stakeholders is a major challenge for sustainable development and for the identification of sustainability scenarios or policies for biodiversity and ecosystem services. It turns out that independently complying with whinge thresholds and constraints of these stakeholders is not sufficient because dynamic ecological-economic interactions and uncertainties occur. Thus more demanding no whinge standards are needed. In this paper, we first argue that these new boundaries can be endogenously exhibited with the mathematical concepts of viability (...) kernel and viable controls. Second, it is shown how these no whinge kernels have components, such as harvesting of resources, that should remain within safe corridor while some other components, in particular biodiversity, have only lower conservation limits. Thus, using radar charts, we show how this no whinge kernels can take the shape of a tree that we name viability tree. These trees of viability capture the idea that the unbounded renewal potential of biodiversity combined with a bounded use of the different ecosystem services are crucial ingredients for the sustainability of socio-ecosystems and the design of no whinge policies reconciling the different stakeholders involved. (shrink)

While the link between servant leadership and organizational citizenship behavior has been established, the individual-level mechanisms underlying this relationship and its boundary conditions remain poorly understood. In this study, we investigate the salience of the mediating mechanisms of leader–member exchange and psychological empowerment in explaining the process by which servant leaders elicit discretionary OCB among followers. We also examine the role of followers’ proactive personality in moderating the indirect effects of servant leadership on OCB through LMX and psychological empowerment. Analysis (...) of survey data collected from 446 supervisor–subordinate dyads in a large Chinese state-owned enterprise suggests that while servant leadership is positively related to subordinate OCB through LMX, psychological empowerment does not explain any additional variance in OCB above that accounted for by LMX. Moderated mediation tests confirm the moderating effect of proactive personality through LMX. By providing a nuanced understanding of how and when servant leadership leads followers to go above and beyond their job role, our study assists organizations in deciding how to develop and utilize servant leaders in their organizations. (shrink)

China’s extensive media presence in Africa aims to distinguish itself through the use of constructive journalism in contrast with the perceived dominance of conflict journalism by Western media outlets. However, many scholars have raised questions of consistency surrounding Chinese media’s use of constructive journalism in representing Africa (e.g. Marsh, Citation2016). With perspectives from Galtung’s (Citation1987, p. 1998) conflict and peace journalism, this research applies Critical Discourse Analysis to examine Chinese media’s representation of Africa to an international audience. Using linguistic data (...) from China Radio International’s Today, it challenges the distinctions among peace journalism, solutions journalism and constructive journalism. The findings show that China’s claim of constructive journalism strongly favors the coverage of China, yet is largely absent in the coverage of the African continent. It suggests that while Chinese state-sponsored media utilizes the so-called constructive journalism when presenting information about a specific region to that region, these representations are not consistent across their international coverage. Hence, Africa remains a victim of conflict journalism. (shrink)

We bear witness to a sweeping social movement for change—fostered and driven by a powerful group of Black nurses and nursing students determined to call out and dismantle anti‐Black racism and discrimination within the profession of nursing. The Black Nurses Task Force, launched by the Registered Nurses' Association of Ontario (RNAO) in July 2020, is building momentum for long‐standing change in the profession by critically examining the racist and discriminatory history of nursing, listening to and learning from the lived experiences (...) of the Black nursing community, and shaping concrete, actionable steps to confront anti‐Black racism and discrimination in academic settings, workplaces, and nursing organizations. The Black Nurses Task Force and the RNAO are standing up and speaking out in acknowledgment of the magnitude of anti‐Black racism and discrimination that exist in our profession, health system, justice system, and economic system. This social movement is demonstrating, in actions, how individuals and a collective act as change agents to drive meaningful and widespread change for our present and future Black nurses. We also acknowledge the Black nurses who have gone before us. (shrink)

© 2015, Springer-Verlag Berlin Heidelberg.Genetic studies have identified single nucleotide polymorphisms associated with the risk of prostate cancer. It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score and aggressiveness. Statistical analyses were used to compare the frequency (...) of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 was significantly and inversely associated with aggressive and high-grade disease in European men. Similar associations with aggressive and high-grade disease were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels in both European and African-American men. Our results provide further support that a PC-risk SNP rs2735839 near the KLK3 gene on chromosome 19q13 may be associated with aggressive and high-grade PC. Future prospectively designed, case-case GWAS are needed to identify additional SNPs associated with PC aggressiveness. (shrink)

The Plant Ontology (PO; http://www.plantontology.org/) is a publicly-available, collaborative effort to develop and maintain a controlled, structured vocabulary (“ontology”) of terms to describe plant anatomy, morphology and the stages of plant development. The goals of the PO are to link (annotate) gene expression and phenotype data to plant structures and stages of plant development, using the data model adopted by the Gene Ontology. From its original design covering only rice, maize and Arabidopsis, the scope of the PO has been expanded (...) to include all green plants. The PO was the first multi-species anatomy ontology developed for the annotation of genes and phenotypes. Also, to our knowledge, it was one of the first biological ontologies that provides translations (via synonyms) in non-English languages such as Japanese and Spanish. There are about 2.2 million annotations linking PO terms to over 110,000 unique data objects representing genes or gene models, proteins, RNAs, germplasm and Quantitative Traits Loci (QTLs) from 22 plant species. In this paper, we focus on the plant anatomical entity branch of the PO, describing the organizing principles, resources available to users, and examples of how the PO is integrated into other plant genomics databases and web portals. We also provide two examples of comparative analyses, demonstrating how the ontology structure and PO-annotated data can be used to discover the patterns of expression of the LEAFY (LFY) and terpene synthase (TPS) gene homologs. (shrink)

Oncogenes are altered forms of normal cellular genes known as proto‐oncogenes. Several oncogenes encode enzymes that phosphorylate substrate proteins at tyrosine. In most of these cases the oncogene differs from its proto‐oncogene by multiple mutations that alter the structure of the encoded protein product. Here we discuss how structural changes might effect the regulation and substrate specificity of the protein kinase product of a protooncogene so that it gains the potential to transform cells.

James E Cooper¹, Uwe Christians², Alexander C Wiseman¹¹Division of Renal Diseases and Hypertension, Transplant Center, ²iC42 Integrated Solutions in Systems Biology for Clinical Research and Development, University of Colorado Denver, Aurora, CO, USA: Everolimus is a novel target of rapamycin -I analog that has recently been approved in combination with cyclosporine A and steroids for use in the prevention of organ rejection in kidney transplant recipients. Compared with rapamycin, everolimus is characterized by a shorter half-life and improved bioavailability. Prior to (...) US Food and Drug Administration approval, a number of Phase II and III clinical trials were undertaken to evaluate the effectiveness of everolimus in combination with calcineurin inhibitors for preventing acute rejection and promoting allograft survival in kidney transplant recipients. In this report, we review the pharmacokinetic properties of everolimus, the clinical efficacy studies that led to its approval for use in kidney transplantation, as well as reported data on patient safety and tolerability associated with its use.Keywords: mTOR inhibitors, kidney transplantation, everolimus. (shrink)

_ The Routledge Encyclopaedia of Educational Thinkers_ comprises 128 essays by leading scholars analysing the most important, influential, innovative and interesting thinkers on education of all time. Each of the chronologically arranged entries explores why a particular thinker is significant for those who study education and explores the social, historical and political contexts in which the thinker worked. Ranging from Confucius and Montessori to Dewey and Edward de Bono, the entries form concise, accessible summaries of the greatest or most influential (...) educational thinkers of past and present times. Each essay includes the following features; concise biographical information on the individual, an outline of the individual’s key achievements and activities, an assessment of their impact and influence, a list of their major writings, suggested further reading. Carefully brought together to present a balance of gender and geographical contexts as well as areas of thought and work in the broad field of education, this substantial volume provides a unique history and overview of figures who have shaped education and educational thinking throughout the world. Combining and building upon two internationally renowned volumes, this collection is deliberately broad in scope, crossing centuries, boundaries and disciplines. The Encyclopaedia therefore provides a perfect introduction to the huge range and diversity of educational thought. Offering an accessible means of understanding the emergence and development of what is currently seen in the classroom, this Encyclopaedia is an invaluable reference guide for all students of education, including undergraduates and post-graduates in education or teacher training and students of related disciplines. (shrink)

Wilderness Search and Rescue is the process of finding and assisting persons who are lost in remote wilderness areas. Because such areas are often rugged or relatively inaccessible, searching for missing persons can take huge amounts of time and resources. Camera-equipped mini-Unmanned Aerial Vehicles have the potential for speeding up the search process by enabling searchers to view aerial video of an area of interest while closely coordinating with nearby ground searchers. In this paper, we report on lessons learned by (...) trying to use UAVs to support WiSAR. Our research methodology has relied heavily on field trials involving searches conducted under the direction of practicing search and rescue personnel but using simulated missing persons. Lessons from these field trials include the immediate importance of seeing things well in the video, the field need for defining and supporting various roles in the search team, role-specific needs like supporting systematic search by providing a visualization tool to represent the quality of the search, and the on-going need to better support interactions between ground and video searchers. Surprisingly to us, sophisticated autonomous search patterns were less critical than we anticipated, though advances in video enhancement and visualizing search progress, as well as ongoing work to model the likely location of a missing person, open up the possibility of closing the loop between UAV path-planning, search quality, and the likely location of a moving missing person. Keywords: Unmanned Aerial Vehicles, Wilderness Search and Rescue, Human–Robot Interaction, Human Factors, Field Robotics, Graphical User Interfaces. (shrink)

Protein splicing is an extraordinary post‐translational reaction that removes an intact central “spacer” domain (Sp) from precursor proteins (N‐Sp‐C) while splicing together the N‐ and C‐domains of the precursor, via a peptide bond, to produce a new protein (N‐C). All of the available data on protein splicing fit a model in which these intervening sequences excise at the protein level via a self‐splicing mechanism. Several proteins have recently been discovered that undergo protein splicing, and in two such cases, the excised (...) spacer protein is an endonuclease. Such endonucleases are capable of conferring genetic mobility upon the intervening sequences that encodes them. These intervening sequences define a new family of mobile genetic elements that are translated yet remain phenotypically silent by excising at the protein rather than the RNA level. (shrink)

The Planteome project provides a suite of reference and species-specific ontologies for plants and annotations to genes and phenotypes. Ontologies serve as common standards for semantic integration of a large and growing corpus of plant genomics, phenomics and genetics data. The reference ontologies include the Plant Ontology, Plant Trait Ontology, and the Plant Experimental Conditions Ontology developed by the Planteome project, along with the Gene Ontology, Chemical Entities of Biological Interest, Phenotype and Attribute Ontology, and others. The project also provides (...) access to species-specific Crop Ontologies developed by various plant breeding and research communities from around the world. We provide integrated data on plant traits, phenotypes, and gene function and expression from 95 plant taxa, annotated with reference ontology terms. (shrink)

Martin Heidegger is, perhaps, the most controversial philosopher of the twentieth-century. Little has been written on him or about his work and its significance for educational thought. This unique collection by a group of international scholars reexamines Heidegger's work and its legacy for educational thought.