16,805 research outputs found
sj-pdf-1-aut-10.1177_13623613211066130 – Supplemental material for Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study
No full textSupplemental material, sj-pdf-1-aut-10.1177_13623613211066130 for Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study by Anna Hellquist and Kristiina Tammimies in Autism</p
Susceptibility genes in systemic lupus erythematosus
No full textSystemic lupus erythematosus (SLE) is a complex autoimmune disease for which the incidence and prevalence vary between populations and also between males and females. SLE is characterized by production of pathogenic autoantibodies against nuclear antigens due to a breakdown in self-tolerance and the pathogenesis is associated with the formation of immune complexes, followed by tissue inflammation in multiple organs, such as the skin, joints, heart and kidneys. SLE is an unusually heterogeneous disease and its clinical classification is based on criteria set by the American College of Rheumatology (ACR).Although the underlying pathogenic mechanisms of SLE remain imperfectly understood, both environmental influences and genetic factors have been found to play an important role in disease initiation and progression. Both familial aggregation studies and twin studies support a strong genetic component in SLE and today over 30 convincingly associated SLE susceptibility genes have been identified. Many of these SLE-predisposing genes appear to be involved in similar and/or related biological pathways, including the processing of immune complexes, type I interferon production, and immune signal transduction. Other genes, on the contrary, have no assigned function or obvious role in the immune system, and thus represent ideal candidate to reveal novel disease mechanisms.The aim of this thesis was to study susceptibility genes in SLE, using a number of different approaches. In Paper I we performed a functional candidate gene association study of the GIMAP5 gene, which had been shown to be essential for the survival of leukocytes, and identified association between this gene and SLE in two independent family cohorts from Finland and the UK.In Paper II we performed a positional mapping study within our previously identified susceptibility loci on chromosomes 14q21-q23 and identified association to the novel SLE candidate gene MAMDC1 in four independent cohorts. This gene appears to encode for a novel member of the immunoglobulin cell adhesion molecules superfamily, which is involved in cell adhesion, migration, and recruitment to inflammatory sites.In Papers III-V we performed three different replication studies of previously identified SLE susceptibility in a Finnish case-control cohort and identified association to several genes, including STAT4, IRF5-TNPO3, TYK2, ITGAM-ITGAX, TNFAIP3, FAM167A-BLK, BANK1 and KIAA1542. We furthermore showed evidence ofgene-gene interaction (epistasis) between SNPs in IRF5 and TYK2.In conclusion we have identified two novel SLE candidate genes contributing to SLE susceptibility in several populations as well as shown that a number of previously identified SLE susceptibility genes also contribute to risk in the Finnish population.List of scientific papersI. Hellquist A, Zucchelli M, Kivinen K, Saarialho-Kere U, Koskenmies S, Widen E, Julkunen H, Wong A, Karjalainen-Lindsberg ML, Skoog T, Vendelin J, Cunninghame-Graham DS, Vyse TJ, Kere J, Lindgren CM (2007). The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus. J Med Genet. 44(5): 314-21. https://doi.org/10.1136/jmg.2006.046185 000246177200004II. Hellquist A, Zucchelli M, Lindgren CM, Saarialho-Kere U, Järvinen TM, Koskenmies S, Julkunen H, Onkamo P, Skoog T et. al. (2009). Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). PLoS ONE. [Accepted] https://doi.org/10.1371/journal.pone.0008037 III. Hellquist A, Järvinen TM, Koskenmies S, Zucchelli M, Orsmark-Pietras C, Berglind L, Panelius J, Hasan T, Julkunen H, DAmato M, Saarialho-Kere U, Kere J (2009). Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol. 36(8): 1631-8. https://doi.org/10.3899/jrheum.081160 IV. Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, DAmato M, Garnier S, Syvänen AC, Kere J (2009). Variation in STAT4 is associated with systemic lupus erythematosus (SLE) in a Finnish family cohort. https://doi.org/10.1136/ard.2009.112284 V. Hellquist A, Järvinen TM, Zucchelli M, Koskenmies S, Julkunen H, D Amato M, Saarialho-Kere U, Kere J (2009). Investigation of recently identified SLE genome-wideassociation genes reveals the strongest association to STAT4, IRF5 and ITGAM in the Finnish population. [Manuscript]</p
Immunomodulation in allergic diseases: When anti-inflammatory agents play immunomodulation
No full textAn Article About Albertus C. Van Raalte, Author Unknown, Except for Parts Taken from an Article by Anna C. Post
No full textAn article about Albertus C. Van Raalte, author unknown, except for parts taken from an article by Anna C. Post. The author knew first generation persons in the Holland settlement and therefore, the article has some value.https://digitalcommons.hope.edu/vrp_1890s/1012/thumbnail.jp
Richardson, Barbauld, and the construction of an early modern fan club
No full textMPhilMuch has been written about the life and long works of the eighteenth century epistolary novelist, Samuel Richardson, but the prospect of his position as the first celebrity novelist – responsible for courting his own fame as well as initiating his own fan club – has largely been ignored. The body of manuscripts housed at the National Art Library in the Victoria and Albert Museum in London provides the modern scholar with evidence of the skeletal beginnings of an early fan club. This thesis aims to show how these manuscripts were turned into a saleable commodity by the publisher and entrepreneur Richard Phillips, while under the guiding hand of another, slightly later, literary celebrity, Anna Laetitia Barbauld. In order to restore Richardson’s reputation amongst a new nineteenth century audience, Barbauld was required to construct her own idea of him as an eighteenth century celebrity author, and in doing so the insecurities of a self-professed, apparently diffident man, are revealed. Barbauld’s capacious, but heavily edited selection of letters is analyzed in this thesis, providing ample evidence that Richardson’s correspondents were more than just eager letter writers. By using Barbauld’s biography of Richardson this thesis aims to show how she manipulates the genre of life writing in her construction of him.
This thesis offers an alternative reading of how the Richardson manuscripts are viewed, redefining them as not simply a collection of letters, but as a collective entity, deliberately selected and archived as evidence of an early modern fan club, and its celebrity managing director
Selection of work by Anna Gerber
No full textVarious journals and magazines Anna Gerber has contributed to. Anna Gerber is a graphic designer and writer based in London.
She is the author and designer of All Messed Up: Unpredictable Graphics (Laurence King, 2004) and co-editor and co-designer
of Influences: A Lexicon of Contemporary Graphic Design (Die Gestalten Verlag, 2006) with Anja Lutz. She writes regularily for magazines such as Print, Eye, Creative Review, Varoom and Idea Magazine and her work has also been published in shift!, dot dot dot and +rosebud.
She teaches at the London College of Communication on the BA Graphic Design and MA Design Writing Criticism programmes. She has also held workshops and lectures across the U.K. (including Tate Modern and the V&A Museum), as well as in India, the U.S., Australia and Malaysia.
Anna Gerber is currently engaged in research and developing projects relating to sustainability and how it applies to graphic
design as well as exploring contemporary graphic design in India
Author and Lecturer Anna Bird Stewart will Speak at the University of Dayton
No full textNews release announcing the visitation and speech of author and lecturer Anna Bird Stewart to the University of Dayton
Operatori del processo edilizio
No full textLemma che descrive i diversi attori del processo edilizio, con particolare attenzione al processo edilizio pubblico - ISBN:ISSN 2284-00IX - visibile su: Wikitecnica.com/author/giovenale-anna-mari
- …
