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1.
  • Kanai, M, et al. (author)
  • 2023
  • swepub:Mat__t
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2.
  • Luque, R., et al. (author)
  • A resonant sextuplet of sub-Neptunes transiting the bright star HD 110067
  • 2023
  • In: Nature. - 0028-0836 .- 1476-4687. ; 623:7989, s. 932-937
  • Journal article (peer-reviewed)abstract
    • Planets with radii between that of the Earth and Neptune (hereafter referred to as ‘sub-Neptunes’) are found in close-in orbits around more than half of all Sun-like stars 1,2. However, their composition, formation and evolution remain poorly understood 3. The study of multiplanetary systems offers an opportunity to investigate the outcomes of planet formation and evolution while controlling for initial conditions and environment. Those in resonance (with their orbital periods related by a ratio of small integers) are particularly valuable because they imply a system architecture practically unchanged since its birth. Here we present the observations of six transiting planets around the bright nearby star HD 110067. We find that the planets follow a chain of resonant orbits. A dynamical study of the innermost planet triplet allowed the prediction and later confirmation of the orbits of the rest of the planets in the system. The six planets are found to be sub-Neptunes with radii ranging from 1.94R ⊕ to 2.85R ⊕. Three of the planets have measured masses, yielding low bulk densities that suggest the presence of large hydrogen-dominated atmospheres.
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4.
  • Speakman, John R., et al. (author)
  • Total daily energy expenditure has declined over the past three decades due to declining basal expenditure, not reduced activity expenditure
  • 2023
  • In: Nature Metabolism. - : NATURE PORTFOLIO. - 2522-5812. ; 5:4, s. 579-588
  • Journal article (other academic/artistic)abstract
    • Obesity is caused by a prolonged positive energy balance(1,2). Whether reduced energy expenditure stemming from reduced activity levels contributes is debated(3,4). Here we show that in both sexes, total energy expenditure (TEE) adjusted for body composition and age declined since the late 1980s, while adjusted activity energy expenditure increased over time. We use the International Atomic Energy Agency Doubly Labelled Water database on energy expenditure of adults in the United States and Europe (n = 4,799) to explore patterns in total (TEE: n = 4,799), basal (BEE: n = 1,432) and physical activity energy expenditure (n = 1,432) over time. In males, adjusted BEE decreased significantly, but in females this did not reach significance. A larger dataset of basal metabolic rate (equivalent to BEE) measurements of 9,912 adults across 163 studies spanning 100 years replicates the decline in BEE in both sexes. We conclude that increasing obesity in the United States/Europe has probably not been fuelled by reduced physical activity leading to lowered TEE. We identify here a decline in adjusted BEE as a previously unrecognized factor.
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5.
  • Vogel, Jacob W., et al. (author)
  • Connectome-based modelling of neurodegenerative diseases: towards precision medicine and mechanistic insight
  • 2023
  • In: Nature Reviews Neuroscience. - 1471-003X .- 1471-0048. ; 24:10, s. 620-639
  • Journal article (peer-reviewed)abstract
    • Neurodegenerative diseases are the most common cause of dementia. Although their underlying molecular pathologies have been identified, there is substantial heterogeneity in the patterns of progressive brain alterations across and within these diseases. Recent advances in neuroimaging methods have revealed that pathological proteins accumulate along specific macroscale brain networks, implicating the network architecture of the brain in the system-level pathophysiology of neurodegenerative diseases. However, the extent to which 'network-based neurodegeneration' applies across the wide range of neurodegenerative disorders remains unclear. Here, we discuss the state-of-the-art of neuroimaging-based connectomics for the mapping and prediction of neurodegenerative processes. We review findings supporting brain networks as passive conduits through which pathological proteins spread. As an alternative view, we also discuss complementary work suggesting that network alterations actively modulate the spreading of pathological proteins between connected brain regions. We conclude this Perspective by proposing an integrative framework in which connectome-based models can be advanced along three dimensions of innovation: incorporating parameters that modulate propagation behaviour on the basis of measurable biological features; building patient-tailored models that use individual-level information and allowing model parameters to interact dynamically over time. We discuss promises and pitfalls of these strategies for improving disease insights and moving towards precision medicine. Neurodegenerative diseases show idiosyncratic spatial patterns of progressive protein malformations in the brain. In this Perspective, Vogel et al. discuss the role of inter-regional connectivity in constraining and modulating the spread of pathological proteins and provide a framework for patient-tailored prognostics.
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6.
  • Aharonian, F., et al. (author)
  • Discovery of a radiation component from the Vela pulsar reaching 20 teraelectronvolts
  • 2023
  • In: Nature Astronomy. - : Nature Publishing Group. - 2397-3366. ; 7:11, s. 1341-1350
  • Journal article (peer-reviewed)abstract
    • Gamma-ray observations have established energetic isolated pulsars as outstanding particle accelerators and antimatter factories. However, many questions are still open regarding the acceleration and radiation processes involved, as well as the locations where they occur. The radiation spectra of all gamma-ray pulsars observed to date show strong cutoffs or a break above energies of a few gigaelectronvolts. Using the High Energy Stereoscopic System's Cherenkov telescopes, we discovered a radiation component from the Vela pulsar which emerges beyond this generic cutoff and extends up to energies of at least 20 teraelectronvolts. This is an order of magnitude larger than in the case of the Crab pulsar, the only other pulsar detected in the teraelectronvolt energy range. Our results challenge the state-of-the-art models for the high-energy emission of pulsars. Furthermore, they pave the way for investigating other pulsars through their multiteraelectronvolt emission, thereby imposing additional constraints on the acceleration and emission processes in their extreme energy limit. The H.E.S.S. gamma-ray observatory has observed gamma rays with energies of at least 20 TeV from a pulsar, an energy regime that is hard to reconcile with the existing theories of gamma-ray production for such objects.
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7.
  • Seidlitz, Jakob, et al. (author)
  • The molecular genetic landscape of human brain size variation
  • 2023
  • In: Cell Reports. - 2211-1247. ; 42:11
  • Journal article (peer-reviewed)abstract
    • Human brain size changes dynamically through early development, peaks in adolescence, and varies up to 2-fold among adults. However, the molecular genetic underpinnings of interindividual variation in brain size remain unknown. Here, we leveraged postmortem brain RNA sequencing and measurements of brain weight (BW) in 2,531 individuals across three independent datasets to identify 928 genome-wide significant associations with BW. Genes associated with higher or lower BW showed distinct neurodevelopmental trajectories and spatial patterns that mapped onto functional and cellular axes of brain organization. Expression of BW genes was predictive of interspecies differences in brain size, and bioinformatic annotation revealed enrichment for neurogenesis and cell-cell communication. Genome-wide, transcriptome-wide, and phenome-wide association analyses linked BW gene sets to neuroimaging measurements of brain size and brain-related clinical traits. Cumulatively, these results represent a major step toward delineating the molecular pathways underlying human brain size variation in health and disease.
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8.
  • Wang, Anqi, et al. (author)
  • Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
  • 2023
  • In: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:12, s. 2065-2074
  • Journal article (peer-reviewed)abstract
    • The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
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9.
  • Weinstock, Joshua S, et al. (author)
  • Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
  • 2023
  • In: Nature. - 1476-4687. ; 616:7958, s. 755-763
  • Journal article (peer-reviewed)abstract
    • Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2-6, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point. We applied this method to 5,071 people with clonal haematopoiesis. A genome-wide association study revealed that a common inherited polymorphism in the TCL1A promoter was associated with a slower expansion rate in clonal haematopoiesis overall, but the effect varied by driver gene. Those carrying this protective allele exhibited markedly reduced growth rates or prevalence of clones with driver mutations in TET2, ASXL1, SF3B1 and SRSF2, butthis effect was not seen inclones withdriver mutations in DNMT3A. TCL1A was not expressed in normal or DNMT3A-mutated HSCs, but the introduction of mutations in TET2 or ASXL1 led to the expression of TCL1A protein and the expansion of HSCs in vitro. The protective allele restricted TCL1A expression and expansion of mutant HSCs, as did experimentalknockdown of TCL1A expression. Forced expression of TCL1A promoted the expansion of human HSCs in vitro and mouse HSCs in vivo. Our results indicate that the fitness advantage of several commonly mutated driver genes in clonal haematopoiesis may be mediated by TCL1A activation.
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10.
  • Azevedo, Flavio, et al. (author)
  • Social and moral psychology of COVID-19 across 69 countries
  • 2023
  • In: Scientific Data. - : NATURE PORTFOLIO. - 2052-4463. ; 10:1
  • Journal article (peer-reviewed)abstract
    • The COVID-19 pandemic has affected all domains of human life, including the economic and social fabric of societies. One of the central strategies for managing public health throughout the pandemic has been through persuasive messaging and collective behaviour change. To help scholars better understand the social and moral psychology behind public health behaviour, we present a dataset comprising of 51,404 individuals from 69 countries. This dataset was collected for the International Collaboration on Social & Moral Psychology of COVID-19 project (ICSMP COVID-19). This social science survey invited participants around the world to complete a series of moral and psychological measures and public health attitudes about COVID-19 during an early phase of the COVID-19 pandemic (between April and June 2020). The survey included seven broad categories of questions: COVID-19 beliefs and compliance behaviours; identity and social attitudes; ideology; health and well-being; moral beliefs and motivation; personality traits; and demographic variables. We report both raw and cleaned data, along with all survey materials, data visualisations, and psychometric evaluations of key variables.
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  • Result 1-10 of 44
Type of publication
journal article (38)
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Type of content
peer-reviewed (39)
other academic/artistic (4)
Author/Editor
Vogel, Jacob W (6)
Palotie, A (4)
Fox, C (4)
Ripatti, S (4)
Zhou, W. (4)
Perola, M. (4)
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Kaprio, J (3)
Makitie, A (3)
Joensuu, H (3)
Aavikko, M (3)
Khan, M (3)
Yang, R. (3)
McCarthy, M. (3)
Tuomi, T. (3)
Redfors, Björn (3)
Soininen, H (3)
Hiltunen, M (3)
Biswas, S. (3)
Zielinska, M (3)
Ahmed, A (3)
Farkkila, M (3)
Malarstig, A (3)
Mannermaa, A (3)
Kosek, Eva (3)
Hansson, Oskar (3)
Partanen, J. (3)
Stone, Gregg W. (3)
Mars, N (3)
Schleutker, J (3)
Mack, Michael J. (3)
Salomaa, V (3)
Kaarniranta, K (3)
Hovatta, I (3)
Niemi, M (3)
Daly, MJ (3)
Mattsson, H (3)
Paajanen, T. (3)
Waterworth, D (3)
Lumley, Mark A (3)
Obeidat, M (3)
Kahonen, M (3)
Laitinen, T (3)
Auro, K. (3)
Kristiansson, K. (3)
Tienari, P. (3)
Palotie, T (3)
Toppila-Salmi, S. (3)
John, S (3)
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Loukola, A. (3)
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University
Karolinska Institutet (16)
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Uppsala University (8)
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Linköping University (5)
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Royal Institute of Technology (3)
Chalmers University of Technology (2)
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Stockholm School of Economics (1)
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Language
English (44)
Research subject (UKÄ/SCB)
Medical and Health Sciences (23)
Natural sciences (14)
Engineering and Technology (2)
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