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Sökning: WFRF:(Baas Frank)

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  • Jones, Gregory T., et al. (författare)
  • Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
  • 2017
  • Ingår i: Circulation Research. - 0009-7330 .- 1524-4571. ; 120:2, s. 341-
  • Tidskriftsartikel (refereegranskat)abstract
    • Rationale: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. Objective: To identify additional AAA risk loci using data from all available genome-wide association studies. Methods and Results: Through a meta-analysis of 6 genome-wide association study data sets and a validation study totaling 10 204 cases and 107 766 controls, we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches, we observed no new associations between the lead AAA single nucleotide polymorphisms and coronary artery disease, blood pressure, lipids, or diabetes mellitus. Network analyses identified ERG, IL6R, and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9. Conclusions: The 4 new risk loci for AAA seem to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease.
  • Kenna, Kevin P., et al. (författare)
  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
  • 2016
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 48:9, s. 1037-1042
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
  • Baas, Leo, et al. (författare)
  • Inventing the intervention: how organizations deal with alternative approaches to eco-management
  • 2000
  • Ingår i: Eco-Management and Auditing. - 0968-9427 .- 1099-0925. ; 7:2, s. 67-73
  • Tidskriftsartikel (refereegranskat)abstract
    • The concept of translation captures the essence of the way in which innovative ideas diffuse to organizations: rather than being transplanted in the same way in every organization, the idea is reformulated into a shape that fits the adapting organization. For instance, pollution prevention, which consists of a conceptual framework as well as a set of organizational routines, is an idea that is translated by adopting organizations into shapes that can differ substantially. When intervening in organizations to implement the idea of pollution prevention, the intervention strategy should be sensitive to this translation process. In this paper, we will present the cases of two chemical firms who participated in an action research project aimed at diffusing the concept of pollution prevention. The way in which members from each of these organizations (re)acted in this process reveals some important points about organizational change, organizational culture and interventions. In the translation process, organizational members reframe an outside idea into concepts and routines that fit with existing practices. Thus, introducing a radically new concept can result in piecemeal organizational change or even no change at all. Differences in the translation process are not determined by the technologies employed by an organization; it is the organizational culture that seems to be more important. Involving governmental agencies in the intervention strategy complicates the translation process: in addition to the firm, the agencies seek to shape the idea of pollution prevention into concepts and routines that fit their own existing practices.
  • Baas, Leo, et al. (författare)
  • The introduction and dissemination of the industrial symbiosis projects in the Rotterdam Harbour and Industry Complex
  • 2007
  • Ingår i: International Journal of Environmental Technology and Management. - 1466-2132 .- 1741-511X. ; 7:5-6, s. 551-577
  • Tidskriftsartikel (refereegranskat)abstract
    • The dissemination and implementation of the Industrial Symbiosis projects in the Rotterdam Harbour and Industry Complex can be characterised by break-through projects on the basis of long-term industrial ecology projects. The first 4-year Industrial Symbiosis programme started in 1994 and generated the basis for 15 projects that were further developed in a second 4-year programme that started in 1999 and merged into a 8-years Sustainable Enterprises programme in 2003. This development at the system level is created through the activities of individual organisation in a dynamic, loosely coupled network. The concept of sustainability capabilities is used to analyse the way in which these activities lead to the development of the system.
  • Boons, Frank, et al. (författare)
  • Comparing industrial symbiosis in Europe : towards a conceptual framework and research methodology
  • 2015
  • Ingår i: International perspectives on industrial ecology. - Cheltenham : Edward Elgar Publishing. - 9781781003565 - 9781781003572 ; , s. 69-88
  • Bokkapitel (övrigt vetenskapligt)abstract
    • Industrial symbiosis (IS) continues to raise the interest of researchers and practitioners alike. Individual and haphazard attempts to increase linkages among co-located firms have been complemented by concerted efforts to stimulate the development of industrial regions with intensified resource exchanges that reduce environmental impact. Additionally, there are examples of both spontaneous and facilitated linkages between two or more firms involving flows of materials/energy waste. A striking feature of IS activities is that they are found across diverse social contexts and vary considerably in form (Lombardi et al., 2012); there are substantial differences in the ways in which IS manifests itself. Equally diverse are the activities of policy makers to stimulate such linkages. Such diversity can already be found within Europe, as became apparent in a first meeting among some of the present authors in 2009 (Isenmann and Chernykh, 2009). Researchers present there decided to create a network of European researchers on IS, with the explicit aim to develop a comparative analysis. We can thus provide insight to the relationship between the style of IS and its context and thereby the potential for policy makers in different contexts to learn from each other. Policy learning can be a tempting route to IS, but is fraught with difficulties if the influence of context is not appreciated (e.g., Wang et al., Chapter 6, this volume).
  • Boons, Frank, et al. (författare)
  • Mapping the Diversity of Industrial Symbiosis: Comparative analysis of European public and private efforts to develop symbiotic networks
  • 2013
  • Ingår i: 7th International Society for industrial Ecology Biennial Conference.
  • Konferensbidrag (refereegranskat)abstract
    • The paper presents ongoing research performed by a network of European researchers on the development and diffusion of industrial symbiosis in European countries. The research has a number of aims:1. To find out the nature of industrial symbiosis by finding out the national peculiarities as well as points of correspondence in countries with varying characteristics in socio-economic institutions;2. To map the process of diffusion of industrial symbiosis within and across European countries;3. To find unique and corresponding elements in the (public and private) efforts to stimulate industrial symbiosis.The paper will present main results from the analysis of our cross-national dataset covering these dimensions. It will show the highly specific nature in which symbiosis is defined and diffuse in each country. This leads to a reflection on the way in which industrial symbiosis research should develop more extended typologies of forms of symbiotic networks that are sensitive to these differences. The paper will also reflect on the methods we used to perform this research, and the learning curve we experienced in doing so. This experience is valuable for future research efforts to extend the comparison to other parts of the world, and compare European with American and Asian developments.
  • Boons, Frank, et al. (författare)
  • Trajectories of greening : The diffusion of green organizational routines in the Netherlands, 1986-1995
  • 2000
  • Ingår i: International Studies of Management and Organization. - : Routledge. - 0020-8825 .- 1558-0911. ; 30:3, s. 18-40
  • Tidskriftsartikel (refereegranskat)abstract
    • In the Netherlands. there has been an ongoing effort by business firms and government organizations to deal with the ecological impact of industrial activities. Over the years. the set of organizational routines that firms employ to deal with their ecological impact is changing. In this article, we analyze first of all the change in this set of routines in the period 1986-1995. Then we address the question by what mechanisms these changes are brought about. Institutional theory provides us with three possible mechanisms (i.e., forms of isomorphism) by which such changes occur. Our analysis suggests that, in addition to these three forms, there are two distinct mechanisms of change. We also suggest that each mechanism leads to a certain kind of organizational change. We thus develop the concept of trajectories of change.
  • Eggens, Veerle Rc, et al. (författare)
  • EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
  • 2014
  • Ingår i: Orphanet journal of rare diseases. - 1750-1172. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1.
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