| 1. |
- Santangelo, James S., et al.
(författare)
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Global urban environmental change drives adaptation in white clover
- 2022
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 375
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Tidskriftsartikel (refereegranskat)abstract
- Urbanization transforms environments in ways that alter biological evolution. We examined whether urban environmental change drives parallel evolution by sampling 110,019 white clover plants from 6169 populations in 160 cities globally. Plants were assayed for a Mendelian antiherbivore defense that also affects tolerance to abiotic stressors. Urban-rural gradients were associated with the evolution of clines in defense in 47% of cities throughout the world. Variation in the strength of clines was explained by environmental changes in drought stress and vegetation cover that varied among cities. Sequencing 2074 genomes from 26 cities revealed that the evolution of urban-rural dines was best explained by adaptive evolution, but the degree of parallel adaptation varied among cities. Our results demonstrate that urbanization leads to adaptation at a global scale.
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| 2. |
- Su, Zhan, et al.
(författare)
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
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Tidskriftsartikel (refereegranskat)abstract
- Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
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| 3. |
- Tesi, Bianca, et al.
(författare)
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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
- 2024
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.MethodsgWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.FindingsThe prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).InterpretationOverall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.
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| 4. |
- Tesi, Bianca, et al.
(författare)
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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
- 2024
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
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Tidskriftsartikel (refereegranskat)abstract
- Background: Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.Methods: gWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.Findings: The prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).Interpretation: Overall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.Funding: The study was supported by the Swedish Childhood Cancer Fund and the Ministry of Health and Social Affairs.
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| 5. |
- Artigas Soler, María, et al.
(författare)
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
- 2011
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1082-90
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Tidskriftsartikel (refereegranskat)abstract
- Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
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| 6. |
- Conesa-Boj, Sonia, et al.
(författare)
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Vertical "III-V" V-Shaped Nanomembranes Epitaxially Grown on a Patterned Si[001] Substrate and Their Enhanced Light Scattering
- 2012
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Ingår i: ACS Nano. - : American Chemical Society (ACS). - 1936-086X .- 1936-0851. ; 6:12, s. 10982-10991
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Tidskriftsartikel (refereegranskat)abstract
- We report on a new form of III-IV compound semiconductor nanostructures growing epitaxially as vertical V-shaped nanomembranes on Si(001) and study their light-scattering properties. Precise position control of the InAs nanostructures in regular arrays is demonstrated by bottom-up synthesis using molecular beam epitaxy in nanoscale apertures on a SiO2 mask. The InAs V-shaped nanomembranes are found to originate from the two opposite facets of a rectangular pyramidal island nucleus and extend along two opposite < 111 > B directions, forming flat {110} walls. Dark-field scattering experiments, in combination with light-scattering theory, show the presence of distinctive shape-dependent optical resonances significantly enhancing the local intensity of incident electromagnetic fields over tunable spectral regions. These new nanostructures could have interesting potential in nanosensors, infrared light emitters, and nonlinear optical elements.
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| 7. |
- Ek, Anna, et al.
(författare)
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Physical Activity and Mobile Phone Apps in the Preschool Age: Perceptions of Teachers and Parents
- 2019
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Ingår i: JMIR mhealth and uhealth. - : JMIR Publications. - 2291-5222. ; 7:4
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND:Physical activity (PA) is already beneficial at the preschool age. In many countries, young children spend most of their days in the preschool setting, making it a common arena for PA interventions. Mobile health tools are becoming increasingly popular to promote PA in different populations; however, little is known about the interest for and how the preschool setting could incorporate such a tool.OBJECTIVE:This study aimed to examine how teachers and parents perceive PA in preschool-aged children in general and their perceptions of how a mobile phone app could be used to promote PA in the preschool setting.METHODS:Semistructured interviews were conducted with 15 teachers (93%, [14/15] women, mean age 43.5 years, 47%, [7/15] with a university degree and 10 parents [91%, 9/10] women, mean age 38.9 years, all with a university degree) recruited from 2 urban preschools in central Sweden. The interviews were recorded, fully transcribed, coded, and analyzed using thematic analysis by means of an inductive approach.RESULTS:The analysis revealed 4 themes: (1) children are physically active by nature, (2) the environment as a facilitator or a barrier, (3) prerequisites of the adult world, and (4) an app in the preschool setting-challenges and possibilities. Parents and teachers perceived preschoolers as being spontaneously physically active; however, high-intensity PA was perceived as low. The PA was specifically performed during the day in the preschool. Identified facilitators of PA were access to safe and engaging outdoor environments such as forests, spacious indoor areas, and adult involvement. Adult involvement was considered especially important for children preferring sedentary activities. Identified barriers for PA were restricted indoor and outdoor space, rules for indoor activities, and lack of adult involvement because of time constraints. The teachers perceived that they had limited skills and experiences using apps in general, although they also acknowledged the increasing role of technological tools in the curriculum. Thus, the teachers expressed an interest for an app designed as a support tool for them, especially for situations when PA was limited because of perceived barriers. They suggested the app to include accessible information regarding the health benefits of PA in children linked to a library of activities for different settings and seasons. Parents suggested interactive app features including problem-solving tasks and music and dance, but not video clips as they made children passive.CONCLUSIONS:Vigorous PA was perceived as low in preschool-aged children. Future tailoring of interventions in the preschool setting should work around barriers and support facilitators to PA, especially PA of high intensity. In such work, an app could serve as a source of inspiration for PA in different ages, settings, and seasons and thus reduce environmental and structural inequalities in the preschool setting.
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| 8. |
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| 9. |
- Gronholm-Nyman, Petra, et al.
(författare)
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Limited Effects of Set Shifting Training in Healthy Older Adults
- 2017
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Ingår i: Frontiers in Aging Neuroscience. - : Frontiers Media S.A.. - 1663-4365. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Our ability to flexibly shift between tasks or task sets declines in older age. As this decline may have adverse effects on everyday life of elderly people, it is of interest to study whether set shifting ability can be trained, and if training effects generalize to other cognitive tasks. Here, we report a randomized controlled trial where healthy older adults trained set shifting with three different set shifting tasks. The training group (n = 17) performed adaptive set shifting training for 5 weeks with three training sessions a week (45 min/session), while the active control group (n = 16) played three different computer games for the same period. Both groups underwent extensive pre-and post-testing and a 1-year follow-up. Compared to the controls, the training group showed significant improvements on the trained tasks. Evidence for near transfer in the training group was very limited, as it was seen only on overall accuracy on an untrained computerized set shifting task. No far transfer to other cognitive functions was observed. One year later, the training group was still better on the trained tasks but the single near transfer effect had vanished. The results suggest that computerized set shifting training in the elderly shows long-lasting effects on the trained tasks but very little benefit in terms of generalization.
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| 10. |
- Lindqvist, Anna-Karin, et al.
(författare)
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Active School Transportation in Winter Conditions: Biking Together Is Warmer
- 2019
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 16:2
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Tidskriftsartikel (refereegranskat)abstract
- There has been a decline in children’s use of active school transportation (AST) while there is also limited research concerning AST in winter conditions. This study aimed to explore the prerequisites and experiences of schoolchildren and parents participating in an empowerment- and gamification-inspired intervention to promote students’ AST in winter conditions. Methods: Thirty-five students, who were aged 12–13 years, and 34 parents from the north of Sweden participated in the study. Data were collected using photovoice and open questions in a questionnaire and analyzed using qualitative content analysis. Results: The results show that involvement and togetherness motivated the students to use AST. In addition, during the project, the parents changed to have more positive attitudes towards their children’s use of AST. The students reported that using AST during wintertime is strenuous but rewarding and imparts a sense of pride. Conclusion: Interventions for increasing students’ AST in winter conditions should focus on the motivational aspects for both children and parents. For overcoming parental hesitation with regards to AST during winter, addressing their concerns and empowering the students are key factors. To increase the use of AST all year around, targeting the challenges perceived during the winter is especially beneficial.
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