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| 2. |
- Walters, R G, et al.
(författare)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
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Tidskriftsartikel (refereegranskat)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
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| 3. |
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| 4. |
- Wang, HC, et al.
(författare)
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HMG-1 as a late mediator of endotoxin lethality in mice
- 1999
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 285:5425, s. 248-251
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Tidskriftsartikel (refereegranskat)abstract
- Endotoxin, a constituent of Gram-negative bacteria, stimulates macrophages to release large quantities of tumor necrosis factor (TNF) and interleukin-1 (IL-1), which can precipitate tissue injury and lethal shock (endotoxemia). Antagonists of TNF and IL-1 have shown limited efficacy in clinical trials, possibly because these cytokines are early mediators in pathogenesis. Here a potential late mediator of lethality is identified and characterized in a mouse model. High mobility group–1 (HMG-1) protein was found to be released by cultured macrophages more than 8 hours after stimulation with endotoxin, TNF, or IL-1. Mice showed increased serum levels of HMG-1 from 8 to 32 hours after endotoxin exposure. Delayed administration of antibodies to HMG-1 attenuated endotoxin lethality in mice, and administration of HMG-1 itself was lethal. Septic patients who succumbed to infection had increased serum HMG-1 levels, suggesting that this protein warrants investigation as a therapeutic target.
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| 5. |
- Yamamoto, S., et al.
(författare)
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Water adsorption on α-Fe2O3 (0001) at near ambient conditions
- 2010
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Ingår i: Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 114:5, s. 2256-2266
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated hydroxylation and water adsorption on α Fe 2O3(0001) at water vapor pressures up to 2 Torr and temperatures ranging from 277 to 647 K (relative humidity (RH)
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| 7. |
- Andersson-Gäre, Boel, et al.
(författare)
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Incidence and prevalence of juvenile chronic arthritis : a population survey
- 1987
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Ingår i: Annals of the Rheumatic Diseases. - 0003-4967 .- 1468-2060. ; 46:4, s. 277-81
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Tidskriftsartikel (refereegranskat)abstract
- In a population based epidemiological survey of juvenile chronic arthritis (JCA), performed in Western Sweden in 1983, an incidence of 12/100,000 was found. The estimated prevalence was 56/100,000. Subgroup distribution showed a preponderance of mono- and pauciarticular forms. The peak age of onset was between 0 and 4 years of age. Girls predominated over boys in a ratio of 3:2. Overall, 30% were antinuclear antibody (ANA) positive, 9% rheumatoid factor (RF) positive, and eye involvement occurred in 10% of the children. The results suggest differences in population based studies of JCA compared with previously reported hospital based series.
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| 8. |
- Andersson, L., Wahlund, J.E., Clemmons, J., Gustavsson, B. and Eliasson, L.
(författare)
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Electromagnetic waves and bursty electron acceleration: implications from Freja.
- 2001
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Ingår i: Annales Geophysicae. ; 20:2, s. 139-150
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Tidskriftsartikel (refereegranskat)abstract
- Dispersive Alfven wave activity is identified in four dayside auroral oval events measured by the Freja satellite. The events are characterized by ion injection, bursty electron precipitation below about 1 keV, transverse ion heating and broadband extreme
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| 9. |
- Andersson, Maria J E, et al.
(författare)
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The idiopathic environmental intolerance symptom inventory: development, evaluation, and application.
- 2009
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Ingår i: Journal of occupational and environmental medicine / American College of Occupational and Environmental Medicine. - : American College of Occupational and Environmental Medicine. - 1536-5948 .- 1076-2752. ; 51:7, s. 838-47
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To develop, evaluate, and apply a questionnaire-based instrument for investigation of specific symptoms in idiopathic environmental intolerance (IEI), called the Idiopathic Environmental Intolerance Symptom Inventory (IEISI). METHODS: Participants with IEI to chemicals responded to 82 candidate symptoms and to three subscales of the Quick Environmental Exposure and Sensitivity Inventory (QEESI) at a test (n = 207) and retest (n = 193) occasion. RESULTS: The 27 most commonly reported symptoms were selected and grouped into five symptom categories. Internal consistency, test-retest reliability, and concurrent validity were found to be satisfying. Cluster analysis identified two subgroups of IEI to chemicals. CONCLUSIONS: The results provide support for the IEISI being a reliable, valid, and fast tool for the study of specific symptom prevalence in IEI and encourage further study of subgroups.
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