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- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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- Griessler, Erich, et al.
(författare)
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Xenotransplantation as policy problem : Comparing public debate and policies in an international perspective
- 2012
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Ingår i: Xenotransplantation. - : John Wiley & Sons. - 0908-665X .- 1399-3089. ; 19:1, s. 15-15
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Tidskriftsartikel (refereegranskat)abstract
- Xenotransplantation research had a hype in the late 1990s and early 2000s and was by then considered a therapeutic option with huge financial potential which was to become clinical standard practice in the near future. Driven by these economic hopes and by the expectation that xenotransplantation might alleviate the so-called organ shortage, governmental actors in different countries but also international organizations (WHO, OECD, Council of Europe) and EU institutions started to think about the implications of xenotransplantation and how to regulate this potential new technology.Xenotransplantation, however, for several reasons was not an uncontroversial technology. In the aftermath of food crises, the GMO conflict and blood scandals connected to HIV and hepatitis, xenotransplantation not only raised serious risk problems – connected to xenozoonosis – there were also basic human rights and animal welfare at stake. These were hotly discussed not only within science but also by different NGOs.In this situation many countries and international organizations carried out Technology Assessment (TA) and participatory Technology Assessment (pTA) procedures which should inform policy-makers about what to do.In my presentation I will compare attempts of TA and pTA on xenotransplantation in different countries and international organization (Austria, Canada, Denmark, Latvia, Netherlands, Sweden, UK, Switzerland OECD, and the European Commission). The paper addresses the following questions: How was xenotransplantation framed as a topic in these countries and institutions? In which settings of TA and pTA was xenotransplantation discussed? Who was included and excluded in policy making? In what way? What was the impact of TA and PTA on policy-making? What can we learn from these examples for negotiating techno-scientific futures in complex societies?The paper draws on an international comparative research project about the impact of citizen participation in knowledge-intensive policy fields (CIT-PART) financed by the European Commission within the 7th Framework Programme (Project Number: SSH-CT-2008-225327). For this research, document analysis of literature and media reports has been carried out. One main source, however, were interviews with people involved in pTA and TA either as participants, researchers, civil servants, politicians, stakeholders and practitioners of TA and pTA. For preliminary results see www.cit-art.at.
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- Jiao, Xiang, et al.
(författare)
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Somatic mutations in the notch, NF-KB, PIK3CA, and hedgehog pathways in human breast cancers
- 2012
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 51:5, s. 480-489
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Tidskriftsartikel (refereegranskat)abstract
- Exome sequencing of human breast cancers has revealed a substantial number of candidate cancer genes with recurring but infrequent somatic mutations. To determine more accurately their mutation prevalence, we performed a mutation analysis of 36 novel candidate cancer genes in 96 human breast cancers. Somatic mutations with potential impact on protein function were observed in the genes ADAM12, CENTB1, CENTG1, DIP2C, GLI1, GRIN2D, HDLBP, IKBKB, KPNA5, NFKB1, NOTCH1, and OTOF. These findings strengthen the evidence for involvement of the Notch, Hedgehog, NF-KB, and PIK3CA pathways in breast cancer development, and point to novel processes that likely are involved.
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- Lin, Jimmy, et al.
(författare)
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A multidimensional analysis of genes mutated in breast and colorectal cancers
- 2007
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Ingår i: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 17:9, s. 1304-1318
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Tidskriftsartikel (refereegranskat)abstract
- A recent study of a large number of genes in a panel of breast and colorectal cancers identified somatic mutations in 1149 genes. To identify potential biological processes affected by these genes, we examined their putative roles based on sequence similarity, membership in known functional groups and pathways, and predicted interactions with other proteins. These analyses identified functional groups and pathways that were enriched for mutated genes in both tumor types. Additionally, the results pointed to differences in molecular mechanisms that underlie breast and colorectal cancers, including various intracellular signaling and metabolic pathways. These studies provide a multidimensional framework to guide further research and help identify cellular processes critical for malignant progression and therapeutic intervention.
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- Networked Learning Editorial Collective, (NLEC), et al.
(författare)
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Networked Learning in 2021: A Community Definition
- 2021
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Ingår i: Postdigital Science and Education. - : Springer. - 2524-4868 .- 2524-485X. ; 3, s. 326-369
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Tidskriftsartikel (refereegranskat)abstract
- Introduction (Networked Learning Editorial Collective): Since the turn of this century, much of the world has undergone a tectonic socio-technological change. Computers have left the isolated basements of research institutes and entered people's homes. Network connectivity has advanced from slow and unreliable modems to high-speed broadband. Devices have evolved: from stationary desktop computers to ever-present, always-connected smartphones. These developments have been accompanied by new digital practices, and changing expectations, not least in education, where enthusiasm for digital technologies has been kindled by quite contrasting sets of values. For example, some critical pedagogues working in the traditions of Freire and Illich have understood computers as novel tools for political and social emancipation, while opportunistic managers in cash-strapped universities have seen new opportunities for saving money and/or growing revenues. Irrespective of their ideological leanings, many of the early attempts at marrying technology and education had some features in common: instrumentalist understanding of human relationships with technologies, with a strong emphasis on practice and 'what works'.It is now clear that, in many countries, managerialist approaches have provided the framing, while local constraints and exigencies have shaped operational details, in fields such as e-learning, Technology Enhanced Learning, and others waving the 'Digital' banner. Too many emancipatory educational movements have ignored technology, burying their heads in the sand, or have wished it away, subscribing toa new form of Luddism, even as they sense themselves moving to the margins. But this situation is not set in stone. Our postdigital reality results from a complex interplay between centres and margins. Furthermore, the concepts of centres and margins 'have morphed into formations that we do not yet understand, and they have created (power) relationships which are still unsettled. The concepts … have not disappeared, but they have become somewhat marginal in their own right.' (Jandrić andHayes 2019) Social justice and emancipation are as important as ever, yet they require new theoretical reconfigurations and practices fit for our socio-technological moment.In the 1990s, networked learning (NL) emerged as a critical response to dominant discourses of the day. NL went against the grain in two main ways. First, it embarked on developing nuanced understandings of relationships between humans and technologies; understandings which reach beyond instrumentalism and various forms of determinism. Second, NL embraced the emancipatory agenda of the critical pedagogy movement and has, in various ways, politically committed to social justice (Beaty et al. 2002; Networked Learning Editorial Collective 2020). Gathered around the biennial Networked Learning Conference,1 the Research in NetworkedLearning book series,2 and a series of related projects and activities, the NL community has left a significant trace in educational transformations over the last few decades.Twenty years ago, founding members of the NL community offered a definition of NL which has strongly influenced the NL community’s theoretical perspectives and research approaches (Goodyear et al. 2004).3 Since then, however, the world has radically changed. With this in mind, the Networked Learning Editorial Collective (NLEC) recently published a paper entitled 'Networked Learning: InvitingRedefinition' (2020). In line with NL's critical agenda, a core goal for the paper was to open up a broad discussion about the current meaning and understandings of NL and directions for its further development.The current collectively authored paper presents the responses to the NLEC's open call. With 40 contributors coming from six continents and working across many fields of education, the paper reflects the breadth and depth of current understandings of NL. The responses have been collated, classified into main themes, and lightly edited for clarity. One of the responders, Sarah Hayes, was asked to write aconclusion. The final draft paper has undergone double open review. The reviewers, Laura Czerniewicz and Jeremy Knox, are acknowledged as authors.Our intention, in taking this approach, has been to further stimulate democratic discussion about NL and to prompt some much-needed community-building.
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