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1.
  • Machiela, Mitchell J., et al. (författare)
  • Characterization of Large Structural Genetic Mosaicism in Human Autosomes
  • 2015
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 96:3, s. 487-497
  • Tidskriftsartikel (refereegranskat)abstract
    • Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 3 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
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2.
  • Wang, Zhaoming, et al. (författare)
  • Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
  • 2014
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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3.
  • Baldi, Elio, et al. (författare)
  • Introduction
  • 2024
  • Ingår i: Circulation, Translation and Reception Across Borders. - New York/London : Routledge. - 9781032277653 - 9781032277684 - 9781003293996 ; , s. 1-20
  • Bokkapitel (refereegranskat)
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4.
  • Bloom, Karin, 1984- (författare)
  • Cordelia, 1881–1942 : Profilo storico di una rivista per ragazze
  • 2015
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • The purpose of this dissertation is to conduct a study of the history of the girls’ magazine Cordelia (1881–1942), founded in Florence by Angelo De Gubernatis. The analysis mainly focuses on the years 1881–1917; however, the latter period is also briefly treated. The theoretical framework consists of sociology of literature and gender history; the dissertation belongs to the field of history of publishing, which is integrated with a gender historical perspective. The methodological challenges faced when dealing with periodicals as research objects are also considered. In order to achieve bibliographic control and examine Cordelia’s contents and contributors, all issues of the magazine’s first 36 years were indexed. The study examines the commercial strategies of the magazine’s publishers, as well as the contributions of the chief editors and writers involved in the making of the magazine. Attention is drawn to the personal relationships between the individuals in these groups. As is shown, the magazine was not very successful in its first three years of publication, during the editorship of De Gubernatis. The two editors who followed, Ida Baccini and Jolanda (pseudonym for Maria Maiocchi Plattis), did succeed, however, in creating a familiar and attractive product for the young female public and to involve them in their magazine. Quantitative surveys of the contributors and contents have shown, for instance, that Baccini and Jolanda relied on regular contributions from relatively few writers and also published serial fiction to arouse the readers’ interest. Their comprehension of the potential of the periodical and the importance of their gender in addressing their readers, together with the capacity of long-time publisher Cappelli to develop commercial strategies to boost sales, seem to have been the reason for the longevity and success of Cordelia.
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5.
  • Cedergren, Mickaëlle, et al. (författare)
  • Akademisk forskning som litteraturförmedling – Om skönlitteratur från romanska språk inom svensk forskning
  • 2017
  • Ingår i: Romanska språk i Sverige – tradition och förnyelse.
  • Konferensbidrag (refereegranskat)abstract
    • Föreliggande studie syftar till att studera svenska högskolor och universitet som förmedlare av skönlitteratur från de romanska språken under perioden 1990–2015. Vårt föredrag avser i första hand att kartlägga vilken litteratur skriven på de romanska språken som uppmärksammas i akademisk forskning vid några utvalda lärosäten, såväl inom ämnena franska, spanska, italienska och portugisiska som inom ämnet litteraturvetenskap.Ytterst få studier har hittills undersökt hur den svenska forskningen medverkar till att förmedla litteratur, i synnerhet från de romanska språken. Man har dessutom undvikit de perspektiv som utgår från hur (semi)perifera länder som Sverige förhåller sig till och deltar i den globala diskussionen om litteratur. Vår utgångspunkt är att akademisk forskning i hög grad bidrar till att såväl bekräfta som omförhandla litteraturens värde, men att det saknas en självreflektion kring den egna funktionen som introduktör, kanonbildare och aktör med makt att legitimera och konsekrera skönlitterära verk och författarskap på det världslitterära fältet.Mer konkret kommer studien att fördjupa sig i följande frågeställningar: Vilken skönlitteratur från de romanska språkområdena förekommer inom forskning på akademisk nivå? Vilken relevans har den kanoniserade litteraturen i förhållande till andra typer av litteratur? Vilken betydelse har akademin som medskapare av bilden av kulturen och litteraturen från de romanska språkområdena?För att kunna besvara dessa frågor kommer hittills outforskat undersöknings- och grundmaterial att samlas in och analyseras. Materialet består främst av avhandlingar och vetenskapliga uppsatser men även uppgifter om olika aktiviteter inom forskning som konferenser, workshops, studiedagar och forskningsprojekt utgör en viktig stomme för studien.
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6.
  • Cedergren, Mickaëlle, 1969-, et al. (författare)
  • From comparative literature to the study of mediators
  • 2016
  • Ingår i: Moderna Språk. - 2000-3560. ; 110, s. i-x
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Introduction to this special issue of Moderna språk.This special issue of Moderna Språk contains articles on Swedish mediators who have introduced, translated and reviewed literary texts from the Romance languages. More specifically, the contributions are the outcome of the symposium ”Litteraturförmedlare i Sverige från 1945 till våra dagar” (’Literary mediators in Sweden from 1945 until today’) which took place at Stockholm University 11–12 June 2015.
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7.
  • Circulation, Translation and Reception Across Borders : Italo Calvino’s Invisible Cities Around the World
  • 2024
  • Samlingsverk (redaktörskap) (refereegranskat)abstract
    • This volume offers a detailed analysis of selected cases in the reception, translation and artistic reinterpretation of Italo Calvino's Invisible Cities (1972) around the world.The book traces the many different ways in which Calvino's modern classic has been read, translated and adapted in Brazil, France, the Netherlands and Flanders, Mexico, Romania, Scandinavia, the USSR, China, Poland, Japan and Australia. It also offers analyses of the relation between Calvino's book and, respectively, the East and Africa, as well as reflections on the book's inspiration for, and resonance in, dance, architecture and art. The volume thus traces the diversity in the reception and circulation of Invisible Cities in different countries and continents, offering a much wider framework for the discussion of Calvino’s masterpiece than before, and a more detailed picture of its cultural and linguistic ramifications.This book will be of interest to scholars in Comparative Literature, World Literature, Translation Studies, Italian Studies, Romance Languages, European Studies, Dance, Architecture and Media Studies, as well as to scholars specialised in paratext and reception.
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8.
  • Dhanjal, Soniya, et al. (författare)
  • Heterogeneous Nuclear Ribonucleoprotein C Proteins Interact with the Human Papillomavirus Type 16 (HPV16) Early 3'-Untranslated Region and Alleviate Suppression of HPV16 Late L1 mRNA Splicing.
  • 2015
  • Ingår i: Journal of Biological Chemistry. - 0021-9258 .- 1083-351X. ; 290:21, s. 13354-71
  • Tidskriftsartikel (refereegranskat)abstract
    • In order to identify cellular factors that regulate human papillomavirus type 16 (HPV16) gene expression, cervical cancer cells permissive for HPV16 late gene expression were identified and characterized. These cells either contained a novel spliced variant of the L1 mRNAs that bypassed the suppressed HPV16 late, 5'-splice site SD3632; produced elevated levels of RNA-binding proteins SRSF1 (ASF/SF2), SRSF9 (SRp30c), and HuR that are known to regulate HPV16 late gene expression; or were shown by a gene expression array analysis to overexpress the RALYL RNA-binding protein of the heterogeneous nuclear ribonucleoprotein C (hnRNP C) family. Overexpression of RALYL or hnRNP C1 induced HPV16 late gene expression from HPV16 subgenomic plasmids and from episomal forms of the full-length HPV16 genome. This induction was dependent on the HPV16 early untranslated region. Binding of hnRNP C1 to the HPV16 early, untranslated region activated HPV16 late 5'-splice site SD3632 and resulted in production of HPV16 L1 mRNAs. Our results suggested that hnRNP C1 controls HPV16 late gene expression.
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9.
  • Edfeldt, Chatarina, 1963-, et al. (författare)
  • Northern Crossings : Translation, Circulation and the Literary Semi-periphery
  • 2022
  • Bok (refereegranskat)abstract
    • This open access book uses Swedish literature and the Swedish publishing field as recurring examples to describe and analyse the role of the literary semi-peripheral position in world literature from various perspectives and on meso, micro and macro levels, using both quantitative and qualitative methods. This includes the role of translation in the semi-periphery and the conditions under which literature travels to and from that position. The focus is not on Sweden, as such, but rather on the semi-peripheral transitional space as exemplified by the Swedish case.Consisting of three co-written chapters, this study sheds light on what might be called the semi-peripheral condition or the semi-periphery as an area of transition. As part of the Cosmopolitan and Vernacular Dynamics in World Literatures series, it makes continuous use of the concepts of 'cosmopolitan' and 'vernacular' – or rather, the processual terms, cosmopolitanization and vernacularization – which provide an overall structure to the analysis of literature and literary phenomena. In this way, the authors show that the semi-periphery is an ideal point of departure to further the understanding of world literature, because it is a place where the cosmopolitan (the literary universal) and the vernacular (the rootedness in a particular culture or place) interact in ways that have not yet been thoroughly explored.
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10.
  • Finozzi, Anna, 1991- (författare)
  • La letteratura postcoloniale italiana per l’infanzia (2010-2021) : Lingua, spazio, colore
  • 2022
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Although Italian postcolonial literature, defined as literature written by migrants and second-generation migrants in Italian, has been studied broadly at least since the 2000s, Italian postcolonial literature for children has almost completely been ignored. The only monograph that has dealt with this corpus is the groundbreaking E noi? Il “posto” degli scrittori migranti nella narrativa per ragazzi by Lorenzo Luatti published in 2010. Ever since then, with very few exceptions, there have not been any attempts to deal with this corpus. What has happened since 2010? Have postcolonial children’s books continued to grow in number? And what stories do they tell? To answer these questions, this dissertation analyses a corpus of texts published between 2010 and 2021. Out of these nearly one hundred books, thirty have been subjected to a close reading, resulting in analyses that are transdisciplinary and comparative in nature. I argue that the corpus shapes a postcolonial imaginary, which I refer to as a set of implicit or explicit images that strengthens the counter-narrative already created by Italian postcolonial literature “for adults”. In particular, I uncover how these books display the acquisition of agency by the characters and the rupture of the Eurocentric and adultocentric narrative to de-establish Italian collective memory. This is done along three main interpretative lines that structure the analytical chapters: language, space, and colour. After the introduction and the presentation of the theoretical framework, the second chapter focuses on the negotiation between Italian and the language of the Other. After arguing that the corpus often circulates within the Italian cultural panorama as a translated text, I investigate the strategies through which child characters exercise their agency through the appropriation of their names, their memories, and their stories to dismantle the binarism-based labels underlying their socially constructed identities. In the third chapter, I first concentrate on the intersection between critical geography and postcolonial studies; then, I explore how the child characters transgress boundaries, dissolve the geographic determinism, and evade adult and colonial surveillance by mapping the urban space with their own memories. A focus is also reserved for school as a place where children experience bullying, cyberbullying, and racism. In the fourth chapter, dedicated to colour, I show how the dichotomy darkness–badness is dismissed in the corpus through the exploration of human and nonhuman skin colours, both visually and verbally. The last part of the chapter is dedicated to the books that manage to eliminate colourism by dissociating colour from a “natural” meaning; indeed, they employ colours to explain context-oriented meanings which, once modified, can lead to changes.The dissertation concludes by stating how these books inform a postcolonial imaginary by discussing issues of race, gender, sexuality, ability, and mental health. In particular, the characters claim their agency by transgressing the physical and conceptual boundaries imposed on them by Western and adult oppression. The re-telling of memories and the insertion of silences and breaks enhance the necessity of re-thinking the sequence-based ideology on which History lies. Finally, I stress the need for more studies in these directions by highlighting the liveliness and dynamicity, as well as the social importance, of this corpus. 
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