| 1. |
- 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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| 2. |
- Haidet-Phillips, Amanda M, et al.
(författare)
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Gene Profiling of Human Induced Pluripotent Stem Cell-Derived Astrocyte Progenitors Following Spinal Cord Engraftment.
- 2014
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Ingår i: Stem cells translational medicine. - : Oxford University Press (OUP). - 2157-6580 .- 2157-6564. ; 3:5, s. 575-585
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Tidskriftsartikel (refereegranskat)abstract
- The generation of human induced pluripotent stem cells (hiPSCs) represents an exciting advancement with promise for stem cell transplantation therapies as well as for neurological disease modeling. Based on the emerging roles for astrocytes in neurological disorders, we investigated whether hiPSC-derived astrocyte progenitors could be engrafted to the rodent spinal cord and how the characteristics of these cells changed between in vitro culture and after transplantation to the in vivo spinal cord environment. Our results show that human embryonic stem cell- and hiPSC-derived astrocyte progenitors survive long-term after spinal cord engraftment and differentiate to astrocytes in vivo with few cells from other lineages present. Gene profiling of the transplanted cells demonstrates the astrocyte progenitors continue to mature in vivo and upregulate a variety of astrocyte-specific genes. Given this mature astrocyte gene profile, this work highlights hiPSCs as a tool to investigate disease-related astrocyte biology using in vivo disease modeling with significant implications for human neurological diseases currently lacking animal models.
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| 3. |
- Natzén, Christopher, 1973-
(författare)
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The Coming of Sound Film in Sweden 1928-1932 : New and Old Technologies
- 2010
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This dissertation examines the coming of sound film in Sweden during the years 1928–1932, and the reception of mechanically recorded sounds both in the trade press and among audiences. The novelty of sound film opened up for a negotiation of the perception of sound and image, as it made visible the film medium’s technological construction, before this visibility was once more absorbed by the cinematic discourse. The conversion to sound film is considered from three perspectives -- technology, reception and practice -- as well as through the concept of intermediality, focussing how the audio-visual expression changed during this period.Chapter 1 “Image, Sound, Audience I: ‘Constructed’ sounds - the visibility of technology” deals with these issues prior to the conversion to sound, and the following intermediate years, until sound film had reached a certain equilibrium.Chapter 2 “Production – The Companies” deals with the production and the major Swedish sound companies. Particular attention is given to how formative music in their films transforms itself into a consistent use of non-diegetic music two years before this happened in Hollywood.Chapter 3 “Reception – The Cinemas” addresses the topic of the reception of the first sound films in Sweden during 1929. The argument is that the audience’s re-awakened awareness of the technology described in Chapter 1 was an active part in this process, and that their reactions led back into the advertising campaigns, making them participants in the cinematic event.Chapter 4 “Practice – The Musicians” continues this debate from a musician’s point of view. This chapter turns the focus upside down and looks at the arrival of sound film from a grass-roots perspective. While chapter 4 diverts somewhat in dwelling on issues that do not strictly deal with the conversion to sound, it serves to contextualise a technological invention that changed not only film production and reception, but also had very concrete social repercussions for those that created the sounds of music.Chapter 5 “Image, Sound, Audience II: ‘Authentic’ sounds - the disappearance of technology” dovetails with Chapter 1, addressing similar phenomena at a time when these had become fully integrated and the technology once more became invisible.
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