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| 2. |
- Rohlin, Anna, et al.
(författare)
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A mutation in POLE predisposing to a multi-tumour phenotype
- 2014
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Ingår i: International Journal of Oncology. - : Spandidos Publications. - 1019-6439 .- 1791-2423. ; 45:1, s. 77-81
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Tidskriftsartikel (refereegranskat)abstract
- Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase epsilon have been found in sporadic colorectal cancers (CRCs) and are most likely of importance in tumour development and/or progression. Recently, families with dominantly inherited colorectal adenomas and colorectal cancer were shown to have a causative heterozygous germline mutation in the proofreading exonuclease domain of POLE. The highly penetrant mutation was associated with predisposition to CRC only and no extra-colonic tumours were observed. We have identified a mutation in a large family in which the carriers not only developed CRC, they also demonstrate a highly penetrant predisposition to extra-intestinal tumours such as ovarian, endometrial and brain tumours. The mutation, NM_006231.2:c.1089C>A, p.Asn363Lys, also located in the proofreading exonuclease domain is directly involved in DNA binding. Theoretical prediction of the amino acid substitution suggests a profound effect of the substrate binding capability and a more severe impairment of the catalytic activity compared to the previously reported germline mutation. A possible genotype to phenotype correlation for deleterious mutations in POLE might exist that needs to be considered in the follow-up of mutation carriers.
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| 3. |
- Ilvered, Magnus, 1964-, et al.
(författare)
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Nationell kraftsamling i Japan : Kulturskatter i den digitala eran
- 2008
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Ingår i: Biblioteksbladet. - Stockholm : Svensk Biblioteksförening. - 0006-1867. ; :10, s. 19-20
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- I Japan har man insett att det finns ett stort värde i att nationellt kraftsamla resurser och kompetenser. Institutioner som får ett uttalat nationellt ansvar inom sitt ansvarsområde ges möjligheter att utveckla tjänster och funktioner som inget enskilt bibliotek har möjlighet att åstadkomma.
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| 4. |
- Nilsson, Ulf-Göran, 1956-, et al.
(författare)
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Competence Clusters for Virtual Information Service
- 2006
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Ingår i: Proceedings of the 12th International Conference on Technology Supported Learning & Training. - Berlin : Online Educa.
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Konferensbidrag (populärvet., debatt m.m.)abstract
- In Sweden there is one consortium for virtual references for each public and research library. The research libraries’ service Librarian On Duty, which uses VRLplus, is a pedagogical service where the patron gets a personal guidance by a librarian via chat and co-browsing. Librarian On Duty is more of a general resource than a specialist one. This means that very specialised questions may not be answered directly, but instead be directed to the most suitable librarian. Depending on the patron’s requirements, the librarian on duty can transfer the question to a colleague at the same library or to another library within the consortia. Librarian on Duty is already in use by half of Sweden’s research libraries.The corresponding service for the public libraries, Ask the Library, is a virtual reference service with many years of experience, the e-mail service was started already in 1995, and now consists of 36 libraries that answer e-mail questions and 14 of these libraries also take part in a chat service. To make a whole new collaboration between and within the consortia possible, the public libraries will change systems to VRLplus, i.e. the same system that is used by the research libraries.A new model for collaborationBy organizing in two consortia, using the same software, there is a possibility for the two organizational types to develop a whole new model for collaboration. This new model implies that each organization could have its own local installation to give service to their local users in the first hand. Each organization participates in the national or international consortias where there is a collaboration to give service around the clock.The new possibilities for cooperation mean that each organization, by using the systems bridge between the consortias, can define new collaborative partners on a national or international basis and thus create whole new virtual information services. These new services may consist of university and research organizations and governmental institutions within a region, e.g. ”Ask Scandinavia”, or be built by competence. It may also be a subject-based cooperation within a European Union area, e.g. ”Ask ECDC”. Other examples may include cooperation between different competences and professions, e.g. “Ask EUROPE DIRECT”.This means increased possibilities for specialization and development, and whole new collaborative constellations between libraries and other community-based services can emerge while still maintaining the basic responsibility for the local users. This is enabled by a tool that is under constant development.The leading ideas to make this a successful service are:- Guidance suited to the needs of the questioner- Creative reference and information work- Competence development for the information professionals- Rationalisation of scarce resources- Higher quality of information services, both off and on campus
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| 5. |
- Nilsson, Ulf-Göran, 1956-
(författare)
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Från online till cd-rom och tillbaka
- 1994
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Ingår i: BIBSAMnytt. - Stockholm : Kungliga biblioteket. - 1100-3847. ; :4, s. 24-27
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Tidskriftsartikel (populärvet., debatt m.m.)
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| 6. |
- Nilsson, Ulf-Göran, 1956-, et al.
(författare)
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Konfigurerbar systembrygga mellan Jourhavande bibliotekarie och Fråga biblioteket : Slutrapport
- 2004
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Rapport (populärvet., debatt m.m.)abstract
- Arbetet med att utveckla en systembrygga för en fördjupad samverkan inom området virtuell referenstjänst inom och mellan bibliotek och bibliotekarier i olika bibliotekstyper, innebär att en infrastruktur finns för att ta hand om alla frågor på ett systematiskt sätt. Möjligheterna för en samordning av en virtuell referenstjänst på nationell nivå ger inte bara kostnadseffektivitet utan också driftsäkerhet samt möjlighet att utveckla en kunskapsbank för att tillvarata och återanvända den kunskap som skapas vid referenssamtalen. Fråga biblioteket har med sin nuvarande kunskapsbank visat att det går att bygga upp en mycket omfattande sådan inom en rimlig tidsperiod. En nationell lösning med systembryggan som grund gör det möjligt att arbeta lokalt, regionalt och nationellt i ett gränsöverskridande samarbete mellan olika biblioteksorganisationer. En referenstjänst på webben bidrar också till att öka tillgängligheten till bibliotekens tjänster. Att delta i ett arbete med virtuella referenstjänster, där samverkan på olika nivåer mellan bibliotek och bibliotekarier är möjlig, kan också bidra till en kompetensutveckling inom området. En referenstjänst på webben bidrar också till att öka tillgängligheten till bibliotekens tjänster. Att delta i ett arbete med virtuella referenstjänster, där samverkan på olika nivåer mellan bibliotek och bibliotekarier är möjlig, kan också bidra till en kompetensutveckling inom området. Systembryggan i en kort sammanfattning: Ett flexibelt system för hantering av alla e-frågor En kollaborativ lösning som även innebär fristående tjänster lokalt Möjlighet att skapa helt nya tjänster för samverkan En väl utvecklad managementdel med bl.a. uttag av rapporter på lokal, regional och nationell nivå och möjlighet att skapa enkäter på olika nivåer Full frihet att själv skräddarsy layout och texter med exempelvis egna loggor Möjlighet till uppföljning av alla frågor när som helst Funktioner för back office mellan samtliga bibliotek av alla bibliotekstyper
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| 7. |
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| 8. |
- Rohlin, Anna, et al.
(författare)
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GREM1 and POLE variants in hereditary colorectal cancer syndromes
- 2016
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 55:1, s. 95-106
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary factors are thought to play a role in at least one third of patients with colorectal cancer (CRC) but only a limited proportion of these have mutations in known high-penetrant genes. In a relatively large part of patients with a few or multiple colorectal polyps the underlying genetic cause of the disease is still unknown. Using exome sequencing in combination with linkage analyses together with detection of copy-number variations (CNV), we have identified a duplication in the regulatory region of the GREM1 gene in a family with an attenuated/atypical polyposis syndrome. In addition, 107 patients with colorectal cancer and/or polyposis were analyzed for mutations in the candidate genes identified. We also performed screening of the exonuclease domain of the POLE gene in a subset of these patients. The duplication of 16 kb in the regulatory region of GREM1 was found to be disease-causing in the family. Functional analyses revealed a higher expression of the GREM1 gene in colorectal tissue in duplication carriers. Screening of the exonuclease domain of POLE in additional CRC patients identified a probable causative novel variant c.1274A>G, p.Lys425Arg. In conclusion a high penetrant duplication in the regulatory region of GREM1, predisposing to CRC, was identified in a family with attenuated/atypical polyposis. A POLE variant was identified in a patient with early onset CRC and a microsatellite stable (MSS) tumor. Mutations leading to increased expression of genes can constitute disease-causing mutations in hereditary CRC syndromes. © 2015 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc.
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