4 resultados para Partly inbred lines

em Helda - Digital Repository of University of Helsinki


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The goal of the study is to build an image of deafness and of the lives of the deaf from their own per-spectives. The lives of deaf sign language users are analysed through the concept of identity. The start-ing point for the study is the idea that identities are moulded and structured in action and interaction and are, therefore, continuous processes. The terminology and ideas used in the present study are mostly based on Erving Goffman s (1971, 1986) work in which he sees identity as a representation of self. Via our language and our actions we build and present an image of ourselves to others and to ourselves alike. The research aims at answering the following questions concerning the lives of deaf sign language users: how do deaf people build an image of themselves as deaf people, what kind of meanings does deafness acquire in their lives, and what opportunities do they have to be perceived by others as they feel they are, i.e. to present their true self . In order to answer these questions, the narratives provided by eighteen deaf young adults, aged 25 35, in narrative interviews carried out in sign language, have been analysed. The methodology used is that of a data-based, qualitative analysis and narrative analy-sis. The study follows the lines of prior qualitative research carried out in the field of sociology of health and in the study of everyday life. The subjects are divided into three groups according to the linguistic environment dominant in the family: 1) a deaf child in a deaf family, 2) a deaf child in a hearing family using sign language, and 3) a deaf child in a hearing family where sign language was not used. The childhood family has great significance in the way a child constructs his or her identity as a deaf person. The process of construct-ing an identity in the first group can be defined as being automatic or inherited, in the second group the process can be described as being a collective/joint identity-building process, whereas in the third group the process is ambivalent and delayed. The opportunities the deaf have in building their identi-ties as deaf people have been examined through the concept of a collective story reservoir. Research shows that the deaf have, at least partly, a different collective story reservoir that they can rely on from the one the hearing have. Interaction with other deaf people and access to the collective story reservoir is important, because it enables the deaf to form an idea of their own deafness and the life of a deaf person. Three different ways of understanding deafness can be conceptualized from the narratives of the inter-viewed deaf people. In the outdated counter-narrative and the reductive narrative of deafness as an abnormality, the subjects are not capable of seeing themselves as forming part of the narratives or identifying themselves with the ways the deaf are depicted. Yet, the characterizations prevalent in them are the ones that the deaf constantly come across in their day-to-day lives. The narrative through which the subjects depict themselves and their lives can be defined as a pluralistic narrative. The plu-ralistic narrative consists of three elements: the coexistence of the world of the deaf and that of the hearing, the orientation to sign language, and the replacement of local networks with global networks. Although modern Finnish society and its varied social services and subsidy systems enable the realiza-tion of the kind of life described in the pluralistic narrative, the issues of power and inequality still frequently emerge in the narratives in which the deaf young adults described themselves and their lives. Two kinds of power mechanisms can be perceived in the descriptions: belittling and excluding power. These considerably diminish the opportunities of sign language users to create the kind of life that would reflect their personalities while limiting the chances for presenting the self to others.

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Ewing sarcoma is an aggressive and poorly differentiated malignancy of bone and soft tissue. It primarily affects children, adolescents, and young adults, with a slight male predominance. It is characterized by a translocation between chromosomes 11 and 22 resulting in the EWSR1-FLI1fusion transcription factor. The aim of this study is to identify putative Ewing sarcoma target genes through an integrative analysis of three microarray data sets. Array comparative genomic hybridization is used to measure changes in DNA copy number, and analyzed to detect common chromosomal aberrations. mRNA and miRNA microarrays are used to measure expression of protein-coding and miRNA genes, and these results integrated with the copy number data. Chromosomal aberrations typically contain also bystanders in addition to the driving tumor suppressor and oncogenes, and integration with expression helps to identify the true targets. Correlation between expression of miRNAs and their predicted target mRNAs is also evaluated to assess the results of post-transcriptional miRNA regulation on mRNA levels. The highest frequencies of copy number gains were identified in chromosome 8, 1q, and X. Losses were most frequent in 9p21.3, which also showed an enrichment of copy number breakpoints relative to the rest of the genome. Copy number losses in 9p21.3 were found have a statistically significant effect on the expression of MTAP, but not on CDKN2A, which is a known tumor-suppressor in the same locus. MTAP was also down-regulated in the Ewing sarcoma cell lines compared to mesenchymal stem cells. Genes exhibiting elevated expression in association with copy number gains and up-regulation compared to the reference samples included DCAF7, ENO2, MTCP1, andSTK40. Differentially expressed miRNAs were detected by comparing Ewing sarcoma cell lines against mesenchymal stem cells. 21 up-regulated and 32 down-regulated miRNAs were identified, includingmiR-145, which has been previously linked to Ewing sarcoma. The EWSR1-FLI1 fusion gene represses miR-145, which in turn targets FLI1 forming a mutually repressive feedback loop. In addition higher expression linked to copy number gains and compared to mesenchymal stem cells, STK40 was also found to be a target of four different miRNAs that were all down-regulated in Ewing sarcoma cell lines compared to the reference samples. SLCO5A1 was identified as the only up-regulated gene within a frequently gained region in chromosome 8. This region was gained in over 90 % of the cell lines, and also with a higher frequency than the neighboring regions. In addition, SLCO5A1 was found to be a target of three miRNAs that were down-regulated compared to the mesenchymal stem cells.