| 1. |
- Langefeld, Carl D., et al.
(författare)
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Transancestral mapping and genetic load in systemic lupus erythematosus
- 2017
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (similar to 50% of these regions have multiple independent associations); these include 24 novel SLE regions (P < 5 x 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.
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| 2. |
- Merrill, Samuel, 1984-, et al.
(författare)
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'Different Folks, Different Strokes' : goINDIGO 2022’s «Creators vs Academics» Discussion Round
- 2023
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Ingår i: document | archive | disseminate graffiti-scapes. - : Urban Creativity. - 9798394601279 ; , s. 25-44
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- During the first discussion round of goINDIGO 2022, which took place on Thursday, 12 May and was called Creators vs Academics, four local graffiti creators were invited to consider a series of (potentially provocative) statements in discussion with symposium participants (joining in-person and online). The statements, compiled by Geert Verhoeven in consultation with Samuel Merrill, were:Academia CHANGES graffitiGraffiti MUST be recordedALL graffiti are archive-worthyDecontextualisation MATTERSGraffiti NEED categorisationDigital media are ESSENTIALThe four attending graffiti creators agreed to participate following their contact and invitation via Instagram. When introducing themselves, each conveyed their own, often close, relationship to the Donaukanal as well as their different levels of experience and exposure within Vienna’s wider graffiti scene. JANER ONE (active since 2012), for instance, took hope from doing graffiti in "tough times" and identified the Donaukanal as a really big playground - "it does not have many rules, and the few rules it has, you must pick up by yourself" - and a site of graffiti history. MANUEL SKIRL (active since 2006) meanwhile recounted how the openness and inclusiveness of the Donaukanal offered the chance to begin creating and, in time, to develop a personal style in "more artistic" directions. SERT (active since 2009) highlighted moving to Vienna partly to be close to the Donaukanal after growing up in a "pretty small village" in the countryside. SNUF’s (active since 2012) first piece was at the prestigious Donaukanal, the "best art gallery of the city with almost daily changing exhibitions". Each of the four brought their personal, 'inside' perspectives to the discussion of the selected statements that is recorded in the following text. This text is not, however, a verbatim nor sequential account of that discussion. Firstly, although retaining the 'feel' of the discussion has been prioritised, the text has been edited for readability, and some superfluous content removed. Secondly, as is often the way with the most exploratory of dialogues, the main topic of conversation shifted quickly and regularly. Thus, although the six statements were originally detailed by Merrill (in his capacity as moderator) following a preamble at the start of the discussion round, in this text these statements (and their more detailed elaborations) have been chronologically redeployed to structure the text in a manner that might better serve the reader. The reordering of the transcription in this way means that in some places the text does not always flow consecutively in the way it did during the discussion. These places are indicated by […] and they do not only represent hops forward, but also hops backward in time.Finally, it is essential to know that all authors - of which none was a minor - have read this text and confirmed in writing that they were fine with their statements. This agreement notwithstanding, one must understand that these statements were raised in a lively discussion and must also be understood and treated this way.
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| 3. |
- Stangou, Arie J, et al.
(författare)
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Solid organ transplantation for non-TTR hereditary amyloidosis : report from the 1st International Workshop on the Hereditary Renal Amyloidoses
- 2012
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Ingår i: Amyloid. - : Informa UK Limited. - 1350-6129 .- 1744-2818. ; 19:S1, s. 81-84
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Tidskriftsartikel (refereegranskat)abstract
- Fibrinogen A alpha-chain (AFib) and apolipoprotein AI (AApoAI) amyloidosis due to variants in the AFib and ApoAI genes are the most common types of hereditary amyloidosis in Europe and the United States. Liver is the exclusive source of the aberrant amyloidogenic protein in AFib and responsible for supplying approximately half of the circulating variant ApoAI. Nephrotic syndrome and renal impairment due to renal amyloidosis are common disease manifestations; however, recent research provides evidence to support a more diverse and systemic disease phenotype, which in turn has implications in the management of the hereditary amyloidoses with solid organ transplantation and, in particular, liver transplantation.
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