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| 2. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 3. |
- Hop, Paul J., et al.
(författare)
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
- 2022
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science. - 1946-6234 .- 1946-6242. ; 14:633
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation-based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.
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| 4. |
- Fjermestad, Krister W., et al.
(författare)
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Therapist-youth agreement on alliance change predicts long-term outcome in CBT for anxiety disorders
- 2016
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Ingår i: Journal of Child Psychology and Psychiatry. - : Wiley. - 0021-9630 .- 1469-7610. ; 57:5, s. 625-632
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Tidskriftsartikel (refereegranskat)abstract
- Background: In individual cognitive behavioral therapy (ICBT) for youth anxiety disorders, it is unclear whether, and from whose perspective, the alliance predicts outcome. We examined whether youth- and therapist-rated alliance, including level of youth-therapist alliance agreement, predicted outcome in a randomized controlled trial.Methods: Youth (N = 91, M age = 11.4 years (SD = 2.1), 49.5% boys, 86.8% Caucasian) diagnosed with separation anxiety disorder, social phobia, or generalized anxiety disorder drawn from the ICBT condition of an effectiveness trial were treated with an ICBT program. Youth- and therapist-rated alliance ratings, assessed with the Therapeutic Alliance Scale for Children (TASC-C/T), were collected following session 3 (early) and 7 (late). Early alliance, change in alliance from early to late, and level of youth-therapist agreement on early alliance and alliance change were examined, in relation to outcomes collected at posttreatment and 1-year follow-up. Outcome was defined as primary diagnosis loss and reduction in clinicians' severity ratings (CSR; Anxiety Disorders Interview Schedule; ADIS-C/P) based on youth- and parent-report at posttreatment and follow-up, and youth treatment satisfaction collected at posttreatment (Client Satisfaction Scale; CSS).Results: Early TASC-C scores positively predicted treatment satisfaction at posttreatment. Higher levels of agreement on change in TASC-C and TASC-T scores early to late in treatment predicted diagnosis loss and CSR reduction at follow-up.Conclusions: Only the level of agreement in alliance change predicted follow-up outcomes in ICBT for youth anxiety disorders. The findings support further examination of the role that youth-therapist alliance discrepancies may play in promoting positive outcomes in ICBT for youth anxiety disorders. Clinical trial number NCT00586586, clinicaltrials.gov.
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| 5. |
- Black, Melissa H., et al.
(författare)
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Multi-informant International Perspectives on the Facilitators and Barriers to Employment for Autistic Adults
- 2020
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 13:7, s. 1195-1214
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Tidskriftsartikel (refereegranskat)abstract
- Employment rates for autistic individuals are poor, even compared to those from other disability groups. Internationally, there remains limited understanding of the factors influencing employment across the stages of preparing for, gaining, and maintaining employment. This is the third in a series of studies conducted as part of an International Society for Autism Research (INSAR) policy brief intended to improve employment outcomes for autistic individuals. A multi-informant international survey with five key stakeholder groups, including autistic individuals, their families, employers, service providers, and researchers, was undertaken in Australia, Sweden, and the United States to understand the facilitators and barriers to employment for autistic adults. A total of 687 individuals participated, including autistic individuals (n = 246), family members (n = 233), employers (n = 35), clinicians/service providers (n = 123), and researchers (n = 50). Perceptions of the facilitators and barriers to employment differed significantly across both key stakeholder groups and countries, however, ensuring a good job match and focusing on strengths were identified by all groups as important for success. Key barriers to employment included stigma, a lack of understanding of autism spectrum disorder (ASD) and communication difficulties. Results suggest that a holistic approach to employment for autistic individuals is required, aimed at facilitating communication between key stakeholders, addressing attitudes and understanding of ASD in the workplace, using strength-based approaches and providing early work experience. LAY SUMMARY: Autistic individuals experience significant difficulty getting and keeping a job. This article presents a survey study involving autistic individuals, their families, employers, service providers and researchers in Australia, Sweden, and the United States to understand their perspectives on the factors that support or act as barriers to employment. While perspectives varied across key stakeholders, strategies such as using a holistic approach, targeting workplace attitudes and understanding, focusing on strengths, and providing early work experience are important for success.
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| 6. |
- Scott, Melissa, et al.
(författare)
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Factors impacting employment for people with autism spectrum disorder : A scoping review
- 2019
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Ingår i: Autism. - : Sage Publications. - 1362-3613 .- 1461-7005. ; 23:4, s. 869-901
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Forskningsöversikt (refereegranskat)abstract
- The aim of this study is to holistically synthesise the extent and range of literature relating to the employment of individuals with autism spectrum disorder. Database searches of Medline, CINAHL, PsychINFO, Scopus, ERIC, Web of Science and EMBASE were conducted. Studies describing adults with autism spectrum disorder employed in competitive, supported or sheltered employment were included. Content analysis was used to identify the strengths and abilities in the workplace of employees with autism spectrum disorder. Finally, meaningful concepts relating to employment interventions were extracted and linked to the International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder. The search identified 134 studies for inclusion with methodological quality ranging from limited to strong. Of these studies, only 36 evaluated employment interventions that were coded and linked to the International Classification of Functioning, Disability and Health, primarily focusing on modifying autism spectrum disorder characteristics for improved job performance, with little consideration of the impact of contextual factors on work participation. The International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder are a useful tool in holistically examining the employment literature for individuals with autism spectrum disorder. This review highlighted the key role that environmental factors play as barriers and facilitators in the employment of people with autism spectrum disorder and the critical need for interventions which target contextual factors if employment outcomes are to be improved.
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