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- Kehoe, Laura, et al.
(författare)
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Make EU trade with Brazil sustainable
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- van Rheenen, Wouter, et al.
(författare)
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
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Tidskriftsartikel (refereegranskat)abstract
- To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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- Fountoulakis, Konstantinos N., et al.
(författare)
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Staging of Schizophrenia With the Use of PANSS : An International Multi-Center Study
- 2019
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Ingår i: International Journal of Neuropsychopharmacology. - : Oxford University Press. - 1461-1457 .- 1469-5111. ; 22:11, s. 681-697
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionA specific clinically relevant staging model for schizophrenia has not yet been developed. The aim of the current study was to evaluate the factor structure of the PANSS and develop such a staging method.MethodsTwenty-nine centers from 25 countries contributed 2358 patients aged 37.21 ± 11.87 years with schizophrenia. Analysis of covariance, Exploratory Factor Analysis, Discriminant Function Analysis, and inspection of resultant plots were performed.ResultsExploratory Factor Analysis returned 5 factors explaining 59% of the variance (positive, negative, excitement/hostility, depression/anxiety, and neurocognition). The staging model included 4 main stages with substages that were predominantly characterized by a single domain of symptoms (stage 1: positive; stages 2a and 2b: excitement/hostility; stage 3a and 3b: depression/anxiety; stage 4a and 4b: neurocognition). There were no differences between sexes. The Discriminant Function Analysis developed an algorithm that correctly classified >85% of patients.DiscussionThis study elaborates a 5-factor solution and a clinical staging method for patients with schizophrenia. It is the largest study to address these issues among patients who are more likely to remain affiliated with mental health services for prolonged periods of time.
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- Renne, Paul R, et al.
(författare)
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Multi-proxy record of the Chicxulub impact at the Cretaceous-Paleogene boundary from Gorgonilla Island, Colombia
- 2018
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Ingår i: Geology. - Denver : Geological Society of America. - 0091-7613 .- 1943-2682. ; 46, s. 547-550
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Tidskriftsartikel (refereegranskat)abstract
- A 40 m stratigraphic section at Gorgonilla Island, Colombia, provides a unique deepmarine, low-latitude, Southern Hemisphere record of events related to the end-Cretaceous Chicxulub impact and the global Cretaceous/Paleogene boundary (KPB). The KPB is marked by a 20-mm-thick, densely packed spherule bed as defined by planktic foraminifera, in contrast to complex relationships found in high-energy, impact-proximal sites in the Gulf of Mexico and Caribbean basins. The absence of basal Danian foraminiferal Zone P0 may indicate a possible hiatus of <10 ka immediately above the spherule bed, but is most probably an artifact of deposition below the calcite compensation depth as suggested by the nearly complete absence of calcareous fossils for 20 m below the Zone Pα. A weighted mean 40Ar/39Ar age of 66.051 ± 0.031 Ma for 25 fresh glassy spherules unequivocally establishes both their derivation from Chicxulub, and the association between the impact and the KPB. The spherule bed, and Maastrichtian strata below it, display soft-sediment deformation features consistent with strong seismic motion, suggesting that seismic activity in the immediate aftermath of the Chicxulub impact continued for weeks. We discovered a fern-spike immediately above the spherule bed, representing the first record of this pioneer vegetation from the South American continent, and from a low-latitude (tropical) environment.
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