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3.
  • Correa, D. F., et al. (author)
  • Geographic patterns of tree dispersal modes in Amazonia and their ecological correlates
  • 2023
  • In: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 32:1, s. 49-69
  • Journal article (peer-reviewed)abstract
    • Aim To investigate the geographic patterns and ecological correlates in the geographic distribution of the most common tree dispersal modes in Amazonia (endozoochory, synzoochory, anemochory and hydrochory). We examined if the proportional abundance of these dispersal modes could be explained by the availability of dispersal agents (disperser-availability hypothesis) and/or the availability of resources for constructing zoochorous fruits (resource-availability hypothesis). Time period Tree-inventory plots established between 1934 and 2019. Major taxa studied Trees with a diameter at breast height (DBH) >= 9.55 cm. Location Amazonia, here defined as the lowland rain forests of the Amazon River basin and the Guiana Shield. Methods We assigned dispersal modes to a total of 5433 species and morphospecies within 1877 tree-inventory plots across terra-firme, seasonally flooded, and permanently flooded forests. We investigated geographic patterns in the proportional abundance of dispersal modes. We performed an abundance-weighted mean pairwise distance (MPD) test and fit generalized linear models (GLMs) to explain the geographic distribution of dispersal modes. Results Anemochory was significantly, positively associated with mean annual wind speed, and hydrochory was significantly higher in flooded forests. Dispersal modes did not consistently show significant associations with the availability of resources for constructing zoochorous fruits. A lower dissimilarity in dispersal modes, resulting from a higher dominance of endozoochory, occurred in terra-firme forests (excluding podzols) compared to flooded forests. Main conclusions The disperser-availability hypothesis was well supported for abiotic dispersal modes (anemochory and hydrochory). The availability of resources for constructing zoochorous fruits seems an unlikely explanation for the distribution of dispersal modes in Amazonia. The association between frugivores and the proportional abundance of zoochory requires further research, as tree recruitment not only depends on dispersal vectors but also on conditions that favour or limit seedling recruitment across forest types.
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4.
  • Wang, Li-San, et al. (author)
  • Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
  • 2015
  • In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
  • Journal article (peer-reviewed)abstract
    • Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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5.
  • Thompson, PM, et al. (author)
  • ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries
  • 2020
  • In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 10:1, s. 100-
  • Journal article (peer-reviewed)abstract
    • This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of “big data” (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA’s activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors.
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6.
  • Van Deerlin, Vivian M, et al. (author)
  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
  • 2010
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:3, s. 234-239
  • Journal article (peer-reviewed)abstract
    • Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.
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7.
  • Botticella, M. T., et al. (author)
  • Supernova 2009kf : An Ultraviolet Bright Type IIP Supernova Discovered with Pan-STARRS 1 and GALEX
  • 2010
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 717, s. L52-L56
  • Journal article (peer-reviewed)abstract
    • We present photometric and spectroscopic observations of a luminous Type IIP Supernova (SN) 2009kf discovered by the Pan-STARRS 1 (PS1) survey and also detected by the Galaxy Evolution Explorer. The SN shows a plateau in its optical and bolometric light curves, lasting approximately 70 days in the rest frame, with an absolute magnitude of M V = -18.4 mag. The P-Cygni profiles of hydrogen indicate expansion velocities of 9000 km s-1 at 61 days after discovery which is extremely high for a Type IIP SN. SN 2009kf is also remarkably bright in the near-ultraviolet (NUV) and shows a slow evolution 10-20 days after optical discovery. The NUV and optical luminosity at these epochs can be modeled with a blackbody with a hot effective temperature (T ~ 16,000 K) and a large radius (R ~ 1 × 1015 cm). The bright bolometric and NUV luminosity, the light curve peak and plateau duration, the high velocities, and temperatures suggest that 2009kf is a Type IIP SN powered by a larger than normal explosion energy. Recently discovered high-z SNe (0.7 < z < 2.3) have been assumed to be IIn SNe, with the bright UV luminosities due to the interaction of SN ejecta with a dense circumstellar medium. UV-bright SNe similar to SN 2009kf could also account for these high-z events, and its absolute magnitude M NUV = -21.5 ± 0.5 mag suggests such SNe could be discovered out to z ~ 2.5 in the PS1 survey.
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  • Gezari, S., et al. (author)
  • GALEX and Pan-STARRS1 Discovery of SN IIP 2010aq : The First Few Days After Shock Breakout in a Red Supergiant Star
  • 2010
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 720, s. L77-L81
  • Journal article (peer-reviewed)abstract
    • We present the early UV and optical light curve of Type IIP supernova (SN) 2010aq at z = 0.0862, and compare it to analytical models for thermal emission following SN shock breakout in a red supergiant star. SN 2010aq was discovered in joint monitoring between the Galaxy Evolution Explorer (GALEX) Time Domain Survey (TDS) in the NUV and the Pan-STARRS1 Medium Deep Survey (PS1 MDS) in the g, r, i, and z bands. The GALEX and Pan-STARRS1 observations detect the SN less than 1 day after the shock breakout, measure a diluted blackbody temperature of 31, 000 ± 6000 K 1 day later, and follow the rise in the UV/optical light curve over the next 2 days caused by the expansion and cooling of the SN ejecta. The high signal-to-noise ratio of the simultaneous UV and optical photometry allows us to fit for a progenitor star radius of 700 ± 200R sun, the size of a red supergiant star. An excess in UV emission two weeks after shock breakout compared with SNe well fitted by model atmosphere-code synthetic spectra with solar metallicity is best explained by suppressed line blanketing due to a lower metallicity progenitor star in SN 2010aq. Continued monitoring of PS1 MDS fields by the GALEX TDS will increase the sample of early UV detections of Type II SNe by an order of magnitude and probe the diversity of SN progenitor star properties.
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  • Ferrari, Raffaele, et al. (author)
  • Frontotemporal dementia and its subtypes: a genome-wide association study.
  • 2014
  • In: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
  • Journal article (peer-reviewed)abstract
    • Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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  • Ferreira, Daniel, et al. (author)
  • β-Amyloid and tau biomarkers and clinical phenotype in dementia with Lewy bodies
  • 2020
  • In: Neurology. - 1526-632X. ; 95:24, s. 3257-3268
  • Journal article (peer-reviewed)abstract
    • OBJECTIVE: In a multicenter cohort of probable dementia with Lewy bodies (DLB), we tested the hypothesis that β-amyloid and tau biomarker positivity increases with age, which is modified by APOE genotype and sex, and that there are isolated and synergistic associations with the clinical phenotype. METHODS: We included 417 patients with DLB (age 45-93 years, 31% women). Positivity on β-amyloid (A+) and tau (T+) biomarkers was determined by CSF β-amyloid1-42 and phosphorylated tau in the European cohort and by Pittsburgh compound B and AV-1451 PET in the Mayo Clinic cohort. Patients were stratified into 4 groups: A-T-, A+T-, A-T+, and A+T+. RESULTS: A-T- was the largest group (39%), followed by A+T- (32%), A+T+ (15%), and A-T+ (13%). The percentage of A-T- decreased with age, and A+ and T+ increased with age in both women and men. A+ increased more in APOE ε4 carriers with age than in noncarriers. A+ was the main predictor of lower cognitive performance when considered together with T+. T+ was associated with a lower frequency of parkinsonism and probable REM sleep behavior disorder. There were no significant interactions between A+ and T+ in relation to the clinical phenotype. CONCLUSIONS: Alzheimer disease pathologic changes are common in DLB and are associated with the clinical phenotype. β-Amyloid is associated with cognitive impairment, and tau pathology is associated with lower frequency of clinical features of DLB. These findings have important implications for diagnosis, prognosis, and disease monitoring, as well as for clinical trials targeting disease-specific proteins in DLB. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that in patients with probable DLB, β-amyloid is associated with lower cognitive performance and tau pathology is associated with lower frequency of clinical features of DLB.
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  • Fiore, A., et al. (author)
  • SN 2017gci : a nearby Type I Superluminous Supernova with a bumpy tail
  • 2021
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 502:2, s. 2120-2139
  • Journal article (peer-reviewed)abstract
    • We present and discuss the optical spectrophotometric observations of the nearby (z = 0.087) Type I superluminous supernova (SLSN I) SN 2017gci, whose peak K-corrected absolute magnitude reaches M-g = -21.5 mag. Its photometric and spectroscopic evolution includes features of both slow- and of fast-evolving SLSN I, thus favoring a continuum distribution between the two SLSN-I subclasses. In particular, similarly to other SLSNe I, the multiband light curves (LCs) of SN 2017gci show two re-brightenings at about 103 and 142 d after the maximum light. Interestingly, this broadly agrees with a broad emission feature emerging around 6520 angstrom after similar to 51 d from the maximum light, which is followed by a sharp knee in the LC. If we interpret this feature as H alpha, this could support the fact that the bumps are the signature of late interactions of the ejecta with a (hydrogen-rich) circumstellar material. Then we fitted magnetar- and CSM-interaction-powered synthetic LCs on to the bolometric one of SN 2017gci. In the magnetar case, the fit suggests a polar magnetic field B-p similar or equal to 6 x 10(14) G, an initial period of the magnetar P-initial similar or equal to 2.8 ms, an ejecta mass M-ejecta similar or equal to 9M(circle dot) and an ejecta opacity kappa similar or equal to 0.08 cm(2) g(-1). A CSM-interaction scenario would imply a CSM mass similar or equal to 5 M-circle dot and an ejecta mass similar or equal to 12M(circle dot). Finally, the nebular spectrum of phase + 187 d was modeled, deriving a mass of similar or equal to 10 M-circle dot for the ejecta. Our models suggest that either a magnetar or CSM interaction might be the power sources for SN 2017gci and that its progenitor was a massive (40 M-circle dot) star.
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  • Gray, L J, et al. (author)
  • Significant variation in mortality and functional outcome after acute ischaemic stroke between western countries : Data from the tinzaparin in acute ischaemic stroke trial (TAIST)
  • 2006
  • In: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 77:3, s. 327-333
  • Journal article (peer-reviewed)abstract
    • Background: The medical care of patients with acute stroke varies considerably between countries. This could lead to measurable differences in mortality and functional outcome. Objective: To compare case mix, clinical management, and functional outcome in stroke between 11 countries. Methods: All 1484 patients from 11 countries who were enrolled into the tinzaparin in acute ischaemic stroke trial (TAIST) were included in this substudy. Information collected prospectively on demographics, risk factors, clinical features, measures of service quality (for example, admission to a stroke unit), and outcome were assessed. Outcomes were adjusted for treatment assignment, case mix, and service relative to the British Isles. Results: Differences in case mix (mostly minor) and clinical service (many of prognostic relevance) were present between the countries. Significant differences in outcome were present between the countries. When assessed by geographical region, death or dependency were lower in North America (odds ratio (OR) adjusted for treatment group only = 0.52 (95% confidence interval, 0.39 to 0.71) and north west Europe (OR = 0.54 (0.37 to 0.78)) relative to the British Isles, similar reductions were found when adjustments were made for 11 case mix variables and five service quality measures. Similarly, case fatality rates were lower in North America (OR = 0.44 (0.30 to 0.66)) and Scandinavia (OR = 0.50 (0.33 to 0.74)) relative to the British Isles, whether crude or adjusted for case mix and service quality. Conclusions: Both functional outcome and case fatality vary considerably between countries, even when adjusted for prognostic case mix variables and measures of good stroke care. Differing health care systems and the management of patients with acute stroke may contribute to these findings.
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  • Kun-Rodrigues, Celia, et al. (author)
  • A comprehensive screening of copy number variability in dementia with Lewy bodies.
  • 2019
  • In: Neurobiology of aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 75
  • Journal article (peer-reviewed)abstract
    • The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.
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  • Perley, Daniel A., et al. (author)
  • The fast, luminous ultraviolet transient AT2018cow : extreme supernova, or disruption of a star by an intermediate-mass black hole?
  • 2019
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 484:1, s. 1031-1049
  • Journal article (peer-reviewed)abstract
    • Wide-field optical surveys have begun to uncover large samples of fast (t(rise) less than or similar to 5 d), luminous (M-peak < 18), blue transients. While commonly attributed to the breakout of a supernova shock into a dense wind, the great distances to the transients of this class found so far have hampered detailed investigation of their properties. We present photometry and spectroscopy from a comprehensive worldwide campaign to observe AT 2018cow (ATLAS 18qqn), the first fast-luminous optical transient to be found in real time at low redshift. Our first spectra (<2 days after discovery) are entirely featureless. A very broad absorption feature suggestive of near-relativistic velocities develops between 3 and 8 days, then disappears. Broad emission features of H and He develop after >10 days. The spectrum remains extremely hot throughout its evolution, and the photospheric radius contracts with time (receding below R < 10 (14) cm after 1 month). This behaviour does not match that of any known supernova, although a relativistic jet within a fallback supernova could explain some of the observed features. Alternatively, the transient could originate from the disruption of a star by an intermediate-mass black hole, although this would require long-lasting emission of highly super-Eddington thermal radiation. In either case, AT 2018cow suggests that the population of fast luminous transients represents a new class of astrophysical event. Intensive follow-up of this event in its late phases, and of any future events found at comparable distance, will be essential to better constrain their origins.
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15.
  • Anderson, Cynthia M., et al. (author)
  • Permanent Genetic Resources added to Molecular Ecology Resources Database 1 December 2009-31 January 2010
  • 2010
  • In: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 10:3, s. 576-579
  • Journal article (peer-reviewed)abstract
    • This article documents the addition of 220 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Allanblackia floribunda, Amblyraja radiata, Bactrocera cucurbitae, Brachycaudus helichrysi, Calopogonium mucunoides, Dissodactylus primitivus, Elodea canadensis, Ephydatia fluviatilis, Galapaganus howdenae howdenae, Hoplostethus atlanticus, Ischnura elegans, Larimichthys polyactis, Opheodrys vernalis, Pelteobagrus fulvidraco, Phragmidium violaceum, Pistacia vera, and Thunnus thynnus. These loci were cross-tested on the following species: Allanblackia gabonensis, Allanblackia stanerana, Neoceratitis cyanescens, Dacus ciliatus, Dacus demmerezi, Bactrocera zonata, Ceratitis capitata, Ceratitis rosa, Ceratits catoirii, Dacus punctatifrons, Ephydatia mulleri, Spongilla lacustris, Geodia cydonium, Axinella sp., Ischnura graellsii, Ischnura ramburii, Ischnura pumilio, Pistacia integerrima and Pistacia terebinthus.
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  • Bath, Philip M W, et al. (author)
  • Tinzaparin in acute ischaemic stroke (TAIST) : A randomised aspirin-controlled trial
  • 2001
  • In: The Lancet. - 0140-6736 .- 1474-547X. ; 358:9283, s. 702-710
  • Journal article (peer-reviewed)abstract
    • Background: Low-molecular-weight heparins and heparinoids are superior to unfractionated heparin in the prevention and treatment of venous thromboembolism, but their safety and efficacy in acute ischaemic stroke are inadequately defined. Methods: This randomised, double-blind, aspirin-controlled trial tested the safety and efficacy of treatment with high-dose tinzaparin (175 anti-Xa IU/kg daily, 487 patients), medium-dose tinzaparin (100 anti-Xa IU/kg daily, 508 patients), or aspirin (300 mg daily, 491 patients) started within 48 h of acute ischaemic stroke and given for up to 10 days. Primary intracerebral haemorrhage was excluded by computed tomography. Outcome was assessed, with treatment allocation concealed, by the modified Rankin scale at 6 months (independence [scores 0-2] vs dependence or death [scores 3-6]). Findings: Of 1486 randomised patients, two did not receive treatment and 46 were lost to follow-up. The proportions independent at 6 months were similar in the groups assigned high-dose tinzaparin (194/468 [41.5%]), medium-dose tinzaparin (206/486 [42.4%]), or aspirin (205/482 [42.5%]). There was no difference in effect in any predefined subgroup, including patients with presumed cardioembolic stroke. Other outcome measures were similar between the treatment groups (disability, case-fatality, and neurological deterioration rates). During the in-hospital treatment period no patient assigned high-dose tinzaparin developed a symptomatic deep-vein thrombosis compared with nine assigned aspirin. Conversely, seven patients assigned high-dose tinzaparin developed symptomatic intracerebral haemorrhage compared with one in the aspirin group. Interpretation: Treatment with tinzaparin, at high or medium dose, within 48 h of acute ischaemic stroke did not improve functional outcome compared with aspirin. Although high-dose tinzaparin was superior in preventing deep-vein thrombosis, it was associated with a higher rate of symptomatic intracranial haemorrhage.
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  • Blagorodnova, N., et al. (author)
  • iPTF16fnl : A Faint and Fast Tidal Disruption Event in an E plus A Galaxy
  • 2017
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 844:1
  • Journal article (peer-reviewed)abstract
    • We present ground-based and Swift observations of iPTF16fnl, a likely tidal disruption event (TDE) discovered by the intermediate Palomar Transient Factory (iPTF) survey at 66.6 Mpc. The light curve of the object peaked at an absolute mag M-g = -17.2. The maximum bolometric luminosity (from optical and UV) was L-p similar or equal to (1.0 +/- 0.15) x 10(43) erg s(-1), an order of magnitude fainter than any other optical TDE discovered so far. The luminosity in the first 60 days is consistent with an exponential decay, with L proportional to e(-(t-t0)/T), where t(0) = 57631.0 (MJD) and tau similar or equal to 15 days. The X-ray shows a marginal detection at L-X = 2.4(-1.1)(1.9) x 10(39) erg s(-1) (Swift X-ray Telescope). No radio counterpart was detected down to 3s, providing upper limits for monochromatic radio luminosities of nu L-nu < 2.3 x 10(36) erg s(-1) and nLn < 1.7 x 10(37) erg s(-1) (Very Large Array, 6.1 and 22 GHz). The blackbody temperature, obtained from combined Swift UV and optical photometry, shows a constant value of 19,000 K. The transient spectrum at peak is characterized by broad He II and Ha emission lines, with FWHMs of about 14,000 km s(-1) and 10,000 km s(-1), respectively. He. I lines are also detected at lambda lambda 5875 and 6678. The spectrum of the host is dominated by strong Balmer absorption lines, which are consistent with a post-starburst (E+A) galaxy with an age of similar to 650 Myr and solar metallicity. The characteristics of iPTF16fnl make it an outlier on both luminosity and decay timescales, as compared to other optically selected TDEs. The discovery of such a faint optical event suggests a higher rate of tidal disruptions, as low-luminosity events may have gone unnoticed in previous searches.
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19.
  • Coad, J. P., et al. (author)
  • Diagnostics for studying deposition and erosion processes in JET
  • 2005
  • In: Fusion engineering and design. - : Elsevier. - 0920-3796 .- 1873-7196. ; 74:1-4, s. 745-749
  • Journal article (peer-reviewed)abstract
    • Estimates of erosion, deposition and H-isotope retention in JET from previous divertor campaigns have relied on analysis of in-vessel components removed at shutdowns. The components analysed have also provided an incomplete coverage of the vessel. In 2004, new diagnostics are being installed to give a more complete picture (such as smart tiles) and to provide some time resolution. The latter includes further quartz microbalances (QMB), following the successful operation of a prototype in 2002-2004 [H.-G. Esser, G. Neill, P. Coad, G.F. Matthews, D. Jolovic, D. Wilson, M. Freisinger, V. Philipps, Quartz microbalance: a time-resolved diagnostic to measure material deposition in JET, Fusion Eng. Des. 66-68 (2003) 855-860; H.-G. Esser, V. Philipps, M. Freisinger, G.F. Matthews, J.P. Coad, G.F. Neill, JET EFDA Contributors, Effect of plasma configuration on carbon migration measured in the inner divertor of JET using quartz microbalance, J. Nucl. Mater. 337-339 (2005) 84-87], which will also have temperature control. Other diagnostics include rotating collectors and deposition monitors [M. Mayer, V. Rohde, P. Coad, P. Wienhold, ASDEX Upgrade Team, JET EFDA Contributors, Carbon erosion and migration in fusion devices, Phys. Scr. T111 (2004) 55-59]. Units are also being installed to provide information on mirrors for ITER.
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20.
  • Cornelissen, Johannes H C, et al. (author)
  • Global negative vegetation feedback to climate warming responses of leaf litter decomposition rates in cold biomes
  • 2007
  • In: Ecology Letters. - : Wiley. - 1461-023X .- 1461-0248. ; 10:7, s. 619-627
  • Journal article (peer-reviewed)abstract
    • Whether climate change will turn cold biomes from large long-term carbon sinks into sources is hotly debated because of the great potential for ecosystem-mediated feedbacks to global climate. Critical are the direction, magnitude and generality of climate responses of plant litter decomposition. Here, we present the first quantitative analysis of the major climate-change-related drivers of litter decomposition rates in cold northern biomes worldwide.Leaf litters collected from the predominant species in 33 global change manipulation experiments in circum-arctic-alpine ecosystems were incubated simultaneously in two contrasting arctic life zones. We demonstrate that longer-term, large-scale changes to leaf litter decomposition will be driven primarily by both direct warming effects and concomitant shifts in plant growth form composition, with a much smaller role for changes in litter quality within species. Specifically, the ongoing warming-induced expansion of shrubs with recalcitrant leaf litter across cold biomes would constitute a negative feedback to global warming. Depending on the strength of other (previously reported) positive feedbacks of shrub expansion on soil carbon turnover, this may partly counteract direct warming enhancement of litter decomposition.
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21.
  • Coughlin, Michael W., et al. (author)
  • GROWTH on S190425z : Searching Thousands of Square Degrees to Identify an Optical or Infrared Counterpart to a Binary Neutron Star Merger with the Zwicky Transient Facility and Palomar Gattini-IR
  • 2019
  • In: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 885:1
  • Journal article (peer-reviewed)abstract
    • The third observing run by LVC has brought the discovery of many compact binary coalescences. Following the detection of the first binary neutron star merger in this run (LIGO/Virgo S190425z), we performed a dedicated follow-up campaign with the Zwicky Transient Facility (ZTF) and Palomar Gattini-IR telescopes. The initial skymap of this single-detector gravitational wave (GW) trigger spanned most of the sky observable from Palomar Observatory. Covering 8000 deg(2) of the initial skymap over the next two nights, corresponding to 46% integrated probability, ZTF system achieved a depth of 21 m(AB) in g- and r-bands. Palomar Gattini-IR covered 2200 square degrees in J-band to a depth of 15.5 mag, including 32% integrated probability based on the initial skymap. The revised skymap issued the following day reduced these numbers to 21% for the ZTF and 19% for Palomar Gattini-IR. We narrowed 338,646 ZTF transient ?alerts? over the first two nights of observations to 15 candidate counterparts. Two candidates, ZTF19aarykkb and ZTF19aarzaod, were particularly compelling given that their location, distance, and age were consistent with the GW event, and their early optical light curves were photometrically consistent with that of kilonovae. These two candidates were spectroscopically classified as young core-collapse supernovae. The remaining candidates were ruled out as supernovae. Palomar Gattini-IR did not identify any viable candidates with multiple detections only after merger time. We demonstrate that even with single-detector GW events localized to thousands of square degrees, systematic kilonova discovery is feasible.
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22.
  • Householder, John Ethan, et al. (author)
  • One sixth of Amazonian tree diversity is dependent on river floodplains
  • 2024
  • In: NATURE ECOLOGY & EVOLUTION. - 2397-334X. ; 8, s. 901-911
  • Journal article (peer-reviewed)abstract
    • Amazonia's floodplain system is the largest and most biodiverse on Earth. Although forests are crucial to the ecological integrity of floodplains, our understanding of their species composition and how this may differ from surrounding forest types is still far too limited, particularly as changing inundation regimes begin to reshape floodplain tree communities and the critical ecosystem functions they underpin. Here we address this gap by taking a spatially explicit look at Amazonia-wide patterns of tree-species turnover and ecological specialization of the region's floodplain forests. We show that the majority of Amazonian tree species can inhabit floodplains, and about a sixth of Amazonian tree diversity is ecologically specialized on floodplains. The degree of specialization in floodplain communities is driven by regional flood patterns, with the most compositionally differentiated floodplain forests located centrally within the fluvial network and contingent on the most extraordinary flood magnitudes regionally. Our results provide a spatially explicit view of ecological specialization of floodplain forest communities and expose the need for whole-basin hydrological integrity to protect the Amazon's tree diversity and its function.
  •  
23.
  • Luize, Bruno Garcia, et al. (author)
  • Geography and ecology shape the phylogenetic composition of Amazonian tree communities
  • 2024
  • In: JOURNAL OF BIOGEOGRAPHY. - 0305-0270 .- 1365-2699. ; 51:7, s. 1163-1184
  • Journal article (peer-reviewed)abstract
    • Aim: Amazonia hosts more tree species from numerous evolutionary lineages, both young and ancient, than any other biogeographic region. Previous studies have shown that tree lineages colonized multiple edaphic environments and dispersed widely across Amazonia, leading to a hypothesis, which we test, that lineages should not be strongly associated with either geographic regions or edaphic forest types. Location: Amazonia. Taxon: Angiosperms (Magnoliids; Monocots; Eudicots). Methods: Data for the abundance of 5082 tree species in 1989 plots were combined with a mega-phylogeny. We applied evolutionary ordination to assess how phylogenetic composition varies across Amazonia. We used variation partitioning and Moran's eigenvector maps (MEM) to test and quantify the separate and joint contributions of spatial and environmental variables to explain the phylogenetic composition of plots. We tested the indicator value of lineages for geographic regions and edaphic forest types and mapped associations onto the phylogeny. Results: In the terra firme and v & aacute;rzea forest types, the phylogenetic composition varies by geographic region, but the igap & oacute; and white-sand forest types retain a unique evolutionary signature regardless of region. Overall, we find that soil chemistry, climate and topography explain 24% of the variation in phylogenetic composition, with 79% of that variation being spatially structured (R-2 = 19% overall for combined spatial/environmental effects). The phylogenetic composition also shows substantial spatial patterns not related to the environmental variables we quantified (R-2 = 28%). A greater number of lineages were significant indicators of geographic regions than forest types. Main Conclusion: Numerous tree lineages, including some ancient ones (>66 Ma), show strong associations with geographic regions and edaphic forest types of Amazonia. This shows that specialization in specific edaphic environments has played a long-standing role in the evolutionary assembly of Amazonian forests. Furthermore, many lineages, even those that have dispersed across Amazonia, dominate within a specific region, likely because of phylogenetically conserved niches for environmental conditions that are prevalent within regions.
  •  
24.
  • Manzoni, Claudia, et al. (author)
  • Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
  • 2024
  • In: American Journal of Human Genetics. - 0002-9297. ; 111:7, s. 1316-1329
  • Journal article (peer-reviewed)abstract
    • Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.
  •  
25.
  • Muscarella, Robert, et al. (author)
  • The global abundance of tree palms
  • 2020
  • In: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 29:9, s. 1495-1514
  • Journal article (peer-reviewed)abstract
    • AimPalms are an iconic, diverse and often abundant component of tropical ecosystems that provide many ecosystem services. Being monocots, tree palms are evolutionarily, morphologically and physiologically distinct from other trees, and these differences have important consequences for ecosystem services (e.g., carbon sequestration and storage) and in terms of responses to climate change. We quantified global patterns of tree palm relative abundance to help improve understanding of tropical forests and reduce uncertainty about these ecosystems under climate change.LocationTropical and subtropical moist forests.Time periodCurrent.Major taxa studiedPalms (Arecaceae).MethodsWe assembled a pantropical dataset of 2,548 forest plots (covering 1,191 ha) and quantified tree palm (i.e., ≥10 cm diameter at breast height) abundance relative to co‐occurring non‐palm trees. We compared the relative abundance of tree palms across biogeographical realms and tested for associations with palaeoclimate stability, current climate, edaphic conditions and metrics of forest structure.ResultsOn average, the relative abundance of tree palms was more than five times larger between Neotropical locations and other biogeographical realms. Tree palms were absent in most locations outside the Neotropics but present in >80% of Neotropical locations. The relative abundance of tree palms was more strongly associated with local conditions (e.g., higher mean annual precipitation, lower soil fertility, shallower water table and lower plot mean wood density) than metrics of long‐term climate stability. Life‐form diversity also influenced the patterns; palm assemblages outside the Neotropics comprise many non‐tree (e.g., climbing) palms. Finally, we show that tree palms can influence estimates of above‐ground biomass, but the magnitude and direction of the effect require additional work.ConclusionsTree palms are not only quintessentially tropical, but they are also overwhelmingly Neotropical. Future work to understand the contributions of tree palms to biomass estimates and carbon cycling will be particularly crucial in Neotropical forests.
  •  
26.
  • Stacey, Simon N, et al. (author)
  • A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
  • 2011
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
  • Journal article (peer-reviewed)abstract
    • To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
  •  
27.
  • ter Steege, Hans, et al. (author)
  • Mapping density, diversity and species-richness of the Amazon tree flora
  • 2023
  • In: COMMUNICATIONS BIOLOGY. - 2399-3642. ; 6:1
  • Journal article (peer-reviewed)abstract
    • Using 2.046 botanically-inventoried tree plots across the largest tropical forest on Earth, we mapped tree species-diversity and tree species-richness at 0.1-degree resolution, and investigated drivers for diversity and richness. Using only location, stratified by forest type, as predictor, our spatial model, to the best of our knowledge, provides the most accurate map of tree diversity in Amazonia to date, explaining approximately 70% of the tree diversity and species-richness. Large soil-forest combinations determine a significant percentage of the variation in tree species-richness and tree alpha-diversity in Amazonian forest-plots. We suggest that the size and fragmentation of these systems drive their large-scale diversity patterns and hence local diversity. A model not using location but cumulative water deficit, tree density, and temperature seasonality explains 47% of the tree species-richness in the terra-firme forest in Amazonia. Over large areas across Amazonia, residuals of this relationship are small and poorly spatially structured, suggesting that much of the residual variation may be local. The Guyana Shield area has consistently negative residuals, showing that this area has lower tree species-richness than expected by our models. We provide extensive plot meta-data, including tree density, tree alpha-diversity and tree species-richness results and gridded maps at 0.1-degree resolution. A study mapping the tree species richness in Amazonian forests shows that soil type exerts a strong effect on species richness, probably caused by the areas of these forest types. Cumulative water deficit, tree density and temperature seasonality affect species richness at a regional scale.
  •  
28.
  • Bras, Jose, et al. (author)
  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
  • 2014
  • In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 23:23, s. 6139-6146
  • Journal article (peer-reviewed)abstract
    • Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
  •  
29.
  • Bruch, Rachel J., et al. (author)
  • The Prevalence and Influence of Circumstellar Material around Hydrogen-rich Supernova Progenitors
  • 2023
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 952:2
  • Journal article (peer-reviewed)abstract
    • Narrow transient emission lines (flash-ionization features) in early supernova (SN) spectra trace the presence of circumstellar material (CSM) around the massive progenitor stars of core-collapse SNe. The lines disappear within days after the SN explosion, suggesting that this material is spatially confined, and originates from enhanced mass loss shortly (months to a few years) prior to the explosion. We performed a systematic survey of H-rich (Type II) SNe discovered within less than 2 days from the explosion during the first phase of the Zwicky Transient Facility survey (2018–2020), finding 30 events for which a first spectrum was obtained within <2 days from the explosion. The measured fraction of events showing flash-ionization features (>36% at the 95% confidence level) confirms that elevated mass loss in massive stars prior to SN explosion is common. We find that SNe II showing flash-ionization features are not significantly brighter, nor bluer, nor more slowly rising than those without. This implies that CSM interaction does not contribute significantly to their early continuum emission, and that the CSM is likely optically thin. We measured the persistence duration of flash-ionization emission and find that most SNe show flash features for ≈5 days. Rarer events, with persistence timescales >10 days, are brighter and rise longer, suggesting these may be intermediate between regular SNe II and strongly interacting SNe IIn.
  •  
30.
  • Casares, L., et al. (author)
  • The synthetic triterpenoids CDDO-TFEA and CDDO-Me, but not CDDO, promote nuclear exclusion of BACH1 impairing its activity
  • 2022
  • In: Redox Biology. - : Elsevier BV. - 2213-2317. ; 51
  • Journal article (peer-reviewed)abstract
    • The transcription factor BACH1 is a potential therapeutic target for a variety of chronic conditions linked to oxidative stress and inflammation, as well as cancer metastasis. However, only a few BACH1 degraders/inhibitors have been described. BACH1 is a transcriptional repressor of heme oxygenase 1 (HMOX1), which is positively regulated by transcription factor NRF2 and is highly inducible by derivatives of the synthetic oleanane triterpenoid 2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid (CDDO). Most of the therapeutic activities of these compounds are due to their anti-inflammatory and antioxidant properties, which are widely attributed to their ability to activate NRF2. However, with such a broad range of action, these compounds have other molecular targets that have not been fully identified and could also be of importance for their therapeutic profile. Herein we identified BACH1 as a target of two CDDO-derivatives (CDDO-Me and CDDO-TFEA), but not of CDDO. While both CDDO and CDDO-derivatives activate NRF2 similarly, only CDDO-Me and CDDO-TFEA inhibit BACH1, which explains the much higher potency of these CDDO-derivatives as HMOX1 inducers compared with unmodified CDDO. Notably, we demonstrate that CDDO-Me and CDDO-TFEA inhibit BACH1 via a novel mechanism that reduces BACH1 nuclear levels while accumulating its cytoplasmic form. In an in vitro model, both CDDO-derivatives impaired lung cancer cell invasion in a BACH1-dependent and NRF2-independent manner, while CDDO was inactive. Altogether, our study identifies CDDO-Me and CDDO-TFEA as dual KEAP1/BACH1 inhibitors, providing a rationale for further therapeutic uses of these drugs.
  •  
31.
  • Chartkunchand, K. C., et al. (author)
  • Lifetimes of bound excited states of Pt-
  • 2017
  • In: Journal of Physics: Conference Series, Vol. 875, no. 022051. - : IOP Publishing. - 1742-6588.
  • Conference paper (peer-reviewed)abstract
    • Measurements of the radiative lifetimes of the two excited states of the platinum anion Pt- are presented. Pt- ions stored in the cryogenic ion storage ring DESIREE were photodetached at different photon wavelengths and the resulting yield of neutral Pt measured as a function of time was recorded. Analysis of the neutral decay curves show a 2.54 +/- 0.10 s lifetime for the higher-lying 5d(10)6(s) S-2(1/2) excited state and a lifetime in the range of 50-200 ms for the lower- lying 5d(9)6(s)(2) D-2(3/2) excited state. This is the first study to report the lifetime of a bound anion excited state with an electron configuration different from that of the anion ground state.
  •  
32.
  • Cornelissen, C, et al. (author)
  • Global change and arctic ecosystems : is lichen decline a function of increases in vascular plant biomass?
  • 2001
  • In: Journal of Ecology. - : Wiley. - 0022-0477 .- 1365-2745. ; 89:6, s. 984-994
  • Journal article (peer-reviewed)abstract
    • 1 Macrolichens are important for the functioning and biodiversity of cold northern ecosystems and their reindeer-based cultures and economics. 2 We hypothesized that, in climatically milder parts of the Arctic, where ecosystems have relatively dense plant canopies, climate warming and/or increased nutrient availability leads to decline in macrolichen abundance as a function of increased abundance of vascular plants. In more open high-arctic or arctic-alpine plant communities such a relationship should be absent. To test this, we synthesized cross-continental arctic vegetation data from ecosystem manipulation experiments simulating mostly warming and increased nutrient availability, and compared these with similar data from natural environmental gradients. 3 Regressions between abundance or biomass of macrolichens and vascular plants were consistently negative across the subarctic and mid-arctic experimental studies. Such a pattern did not emerge in the coldest high-arctic or arctic-alpine sites. The slopes of the negative regressions increased across 10 sites as the climate became milder (as indicated by a simple climatic index) or the vegetation denser (greater site above-ground biomass). 4 Seven natural vegetation gradients in the lower-altitude sub- and mid-arctic zone confirmed the patterns seen in the experimental studies, showing consistent negative relationships between abundance of macrolichens and vascular plants. 5 We conclude that the data supported the hypothesis. Macrolichens in climatically milder arctic ecosystems may decline if and where global changes cause vascular plants to increase in abundance. 6 However, a refining of our findings is needed, for instance by integrating other abiotic and biotic effects such as reindeer grazing feedback on the balance between vascular plants and lichens.
  •  
33.
  • Coughlin, Michael W., et al. (author)
  • 2900 Square Degree Search for the Optical Counterpart of Short Gamma-Ray Burst GRB 180523B with the Zwicky Transient Facility
  • 2019
  • In: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 131:998
  • Journal article (peer-reviewed)abstract
    • There is significant interest in the models for production of short gamma-ray bursts (GRBs). Until now, the number of known short GRBs with multi-wavelength afterglows has been small. While the Fermi GRB Monitor detects many GRBs relative to the Neil Gehrels Swift Observatory, the large localization regions makes the search for counterparts difficult. With the Zwicky Transient Facility (ZTF) recently achieving first light, it is now fruitful to use its combination of depth (m(AB) similar to 20.6), field of view (approximate to 47 square degrees), and survey cadence (every similar to 3 days) to perform Target of Opportunity observations. We demonstrate this capability on GRB 180523B, which was recently announced by the Fermi GRB Monitor as a short GRB. ZTF imaged approximate to 2900 square degrees of the localization region, resulting in the coverage of 61.6% of the enclosed probability over two nights to a depth of m(AB) similar to 20.5. We characterized 14 previously unidentified transients, and none were found to be consistent with a short GRB counterpart. This search with the ZTF shows it is an efficient camera for searching for coarsely localized short GRB and gravitational-wave counterparts, allowing for a sensitive search with minimal interruption to its nominal cadence.
  •  
34.
  • Couthouis, Julien, et al. (author)
  • A yeast functional screen predicts new candidate ALS disease genes
  • 2011
  • In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 108:52, s. 20881-20890
  • Journal article (peer-reviewed)abstract
    • Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cause some forms of ALS. There are at least 213 human proteins harboring RNA recognition motifs, including FUS and TDP-43, raising the possibility that additional RNA-binding proteins might contribute to ALS pathogenesis. We performed a systematic survey of these proteins to find additional candidates similar to TDP-43 and FUS, followed by bioinformatics to predict prion-like domains in a subset of them. We sequenced one of the segenes, TAF15, in patients with ALS and identified missense variants, which were absent in a large number of healthy controls. These disease-associated variants of TAF15 caused formation of cytoplasmic foci when expressed in primary cultures of spinal cord neurons. Very similar to TDP-43 and FUS, TAF15 aggregated in vitro and conferred neurodegeneration in Drosophila, with the ALS-linked variants having amore severe effect than wild type. Immunohistochemistry of postmortem spinal cord tissue revealed mislocalization of TAF15 in motor neurons of patients with ALS. We propose that aggregation-prone RNA-binding proteins might contribute very broadly to ALS pathogenesis and the genes identified in our yeast functional screen, coupled with prion-like domain prediction analysis, now provide a powerful resource to facilitate ALS disease gene discovery.
  •  
35.
  • Crockett, N. R., et al. (author)
  • HERSCHEL OBSERVATIONS OF EXTRA-ORDINARY SOURCES: H2S AS A PROBE OF DENSE GAS AND POSSIBLY HIDDEN LUMINOSITY TOWARD THE ORION KL HOT CORE
  • 2014
  • In: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 781:2, s. 114 (pp. 1-21)
  • Journal article (peer-reviewed)abstract
    • We present Herschel/HIFI observations of the light hydride H2S obtained from the full spectral scan of the Orion Kleinmann-Low nebula (Orion KL) taken as part of the Herschel Observations of EXtra-Ordinary Sources GT (guaranteed time) key program. In total, we observe 52, 24, and 8 unblended or slightly blended features from H2 32S, H2 34S, and H2 33S, respectively. We only analyze emission from the so-called hot core, but emission from the plateau, extended ridge, and/or compact ridge are also detected. Rotation diagrams for ortho and para H2S follow straight lines given the uncertainties and yield T rot = 141 ± 12 K. This indicates H2S is in local thermodynamic equilibrium and is well characterized by a single kinetic temperature or an intense far-IR radiation field is redistributing the population to produce the observed trend. We argue the latter scenario is more probable and find that the most highly excited states (E up gsim 1000 K) are likely populated primarily by radiation pumping. We derive a column density, N tot(H2 32S) = 9.5 ± 1.9 × 1017 cm–2, gas kinetic temperature, T kin = 120$\pm ^{13}_{10}$ K, and constrain the H2 volume density, $n_{\rm H_2}$ gsim 9 × 10 7 cm–3, for the H2S emitting gas. These results point to an H2S origin in markedly dense, heavily embedded gas, possibly in close proximity to a hidden self-luminous source (or sources), which are conceivably responsible for Orion KL's high luminosity. We also derive an H2S ortho/para ratio of 1.7 ± 0.8 and set an upper limit for HDS/H2S of
  •  
36.
  • Fremling, C., et al. (author)
  • The Zwicky Transient Facility Bright Transient Survey. I. Spectroscopic Classification and the Redshift Completeness of Local Galaxy Catalogs
  • 2020
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 895:1
  • Journal article (peer-reviewed)abstract
    • The Zwicky Transient Facility (ZTF) is performing a three-day cadence survey of the visible northern sky (similar to 3 pi) with newly found transient candidates announced via public alerts. The ZTF Bright Transient Survey (BTS) is a large spectroscopic campaign to complement the photometric survey. BTS endeavors to spectroscopically classify all extragalactic transients with m(peak) <= 18.5 mag in either the g(ZTF) or r(ZTF) filters, and publicly announce said classifications. BTS discoveries are predominantly supernovae (SNe), making this the largest flux-limited SN survey to date. Here we present a catalog of 761 SNe, classified during the first nine months of ZTF (2018 April 1-2018 December 31). We report BTS SN redshifts from SN template matching and spectroscopic host-galaxy redshifts when available. We analyze the redshift completeness of local galaxy catalogs, the redshift completeness fraction (RCF; the ratio of SN host galaxies with known spectroscopic redshift prior to SN discovery to the total number of SN hosts). Of the 512 host galaxies with SNe Ia, 227 had previously known spectroscopic redshifts, yielding an RCF estimate of 44% 4%. The RCF decreases with increasing distance and decreasing galaxy luminosity (for z < 0.05, or similar to 200 Mpc, RCF 0.6). Prospects for dramatically increasing the RCF are limited to new multifiber spectroscopic instruments or wide-field narrowband surveys. Existing galaxy redshift catalogs are only similar to 50% complete at r 16.9 mag. Pushing this limit several magnitudes deeper will pay huge dividends when searching for electromagnetic counterparts to gravitational wave events or sources of ultra-high-energy cosmic rays or neutrinos.
  •  
37.
  • Guerreiro, Rita, et al. (author)
  • Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
  • 2016
  • In: Neurobiology of Aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 38, s. 7-214
  • Journal article (peer-reviewed)abstract
    • The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD.
  •  
38.
  • Irani, Ido, et al. (author)
  • On the Origin of SN 2016hil-A Type II Supernova in the Remote Outskirts of an Elliptical Host
  • 2019
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 887:2
  • Journal article (peer-reviewed)abstract
    • Type II supernovae (SNe) stem from the core collapse of massive (>8 M-circle dot) stars. Due to their short lifespan, we expect a very low rate of such events in elliptical hosts, where the star formation rate is low, and which are mostly comprised of an old stellar population. SN 2016hil (iPTF16hil) is an SN II located in the extreme outskirts of an elliptical galaxy at z.=.0.0608 (projected distance 27.2 kpc). It was detected near peak (M-r similar to -17 mag) 9 days after the last non-detection. The event has some potentially peculiar properties: it presented an apparently double-peaked light curve, and its spectra suggest low metallicity content (Z < 0.4 Z(circle dot)). We place a tentative upper limit on the mass of a potential faint host at log M/M-circle dot = 7.27(-0.24)(+0.43) using deep optical imaging from Keck/LRIS. In light of this, we discuss the possibility of the progenitor forming locally and other more exotic formation scenarios such as a merger or common-envelope evolution causing a time-delayed explosion. Further observations of the explosion site in the UV are needed in order to distinguish between the cases. Regardless of the origin of the transient, observing a population of such seemingly hostless SNe II could have many uses, including an estimate the amount of faint galaxies in a given volume, and tests of the prediction of a time-delayed population of core-collapse SNe in locations otherwise unfavorable for the detection of such events.
  •  
39.
  • Kun-Rodrigues, Celia, et al. (author)
  • Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
  • 2017
  • In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 49
  • Journal article (peer-reviewed)abstract
    • . C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of . C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of . C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that . C9orf72 repeat expansions are not causally associated with DLB.
  •  
40.
  • Labbé, Catherine, et al. (author)
  • Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
  • 2015
  • In: Neurology. - 1526-632X. ; 85:19, s. 1680-1686
  • Journal article (peer-reviewed)abstract
    • Objective:To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies. Methods:In this case-control study, we screened a large global series of patients and controls, and assessed associations between p.A152T and disease risk. We included 3,229 patients with clinical Parkinson disease (PD), 442 with clinical dementia with Lewy bodies (DLB), 181 with multiple system atrophy (MSA), 832 with pathologically confirmed Lewy body disease (LBD), and 2,456 healthy controls. Results:The minor allele frequencies (MAF) in clinical PD cases (0.28%) and in controls (0.2%) were not found to be significantly different (odds ratio [OR] 1.37, 95% confidence interval [CI] 0.63-2.98, p = 0.42). However, a significant association was observed with clinical DLB (MAF 0.68%, OR 5.76, 95% CI 1.62-20.51, p = 0.007) and LBD (MAF 0.42%, OR 3.55, 95% CI 1.04-12.17, p = 0.04). Additionally, p.A152T was more common in patients with MSA compared to controls (MAF 0.55%, OR 4.68, 95% CI 0.85-25.72, p = 0.08) but this was not statistically significant and therefore should be interpreted with caution. Conclusions:Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology. Given the rare nature of the variant, further studies with greater sample size are warranted and will help to fully explain the role of p.A152T in the pathogenesis of the synucleinopathies
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41.
  •  
42.
  • Perley, Daniel A., et al. (author)
  • Real-time discovery of AT2020xnd : a fast, luminous ultraviolet transient with minimal radioactive ejecta
  • 2021
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 508:4, s. 5138-5147
  • Journal article (peer-reviewed)abstract
    • The many unusual properties of the enigmatic AT2018cow suggested that at least some subset of the empirical class of fast blue optical transients (FBOTs) represents a genuinely new astrophysical phenomenon. Unfortunately, the intrinsic rarity and fleeting nature of these events have made it difficult to identify additional examples early enough to acquire the observations necessary to constrain theoretical models. We present here the Zwicky Transient Facility discovery of AT2020xnd (ZTF20acigmel, the 'Camel') at z = 0.243, the first unambiguous AT2018cow analogue to be found and confirmed in real time. AT2018cow and AT2020xnd share all key observational properties: a fast optical rise, sustained high photospheric temperature, absence of a second peak attributable to ejection of a radioactively heated stellar envelope, extremely luminous radio, millimetre, and X-ray emission, and a dwarf-galaxy host. This supports the argument that AT2018cow-like events represent a distinct phenomenon from slower-evolving radio-quiet supernovae, likely requiring a different progenitor or a different central engine. The sample properties of the four known members of this class to date disfavour tidal disruption models but are consistent with the alternative model of an accretion powered jet following the direct collapse of a massive star to a black hole. Contextual filtering of alert streams combined with rapid photometric verification using multiband imaging provides an efficient way to identify future members of this class, even at high redshift.
  •  
43.
  • Perley, Daniel A., et al. (author)
  • The Zwicky Transient Facility Bright Transient Survey. II. A Public Statistical Sample for Exploring Supernova Demographics
  • 2020
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 904:1
  • Journal article (peer-reviewed)abstract
    • We present a public catalog of transients from the Zwicky Transient Facility (ZTF) Bright Transient Survey, a magnitude-limited (m g or r filter) survey for extragalactic transients in the ZTF public stream. We introduce cuts on survey coverage, sky visibility around peak light, and other properties unconnected to the nature of the transient, and show that the resulting statistical sample is spectroscopically 97% complete at <18 mag, 93% complete at <18.5 mag, and 75% complete at <19 mag. We summarize the fundamental properties of this population, identifying distinct duration-luminosity correlations in a variety of supernova (SN) classes and associating the majority of fast optical transients with well-established spectroscopic SN types (primarily SN Ibn and II/IIb). We measure the Type Ia SN and core-collapse (CC) SN rates and luminosity functions, which show good consistency with recent work. About 7% of CC SNe explode in very low-luminosity galaxies (M-i > -16 mag), 10% in red-sequence galaxies, and 1% in massive ellipticals. We find no significant difference in the luminosity or color distributions between the host galaxies of SNe Type II and SNe Type Ib/c, suggesting that line-driven wind stripping does not play a major role in the loss of the hydrogen envelope from their progenitors. Future large-scale classification efforts with ZTF and other wide-area surveys will provide high-quality measurements of the rates, properties, and environments of all known types of optical transients and limits on the existence of theoretically predicted but as yet unobserved explosions.
  •  
44.
  • Sharma, Yashvi, et al. (author)
  • A Systematic Study of Ia-CSM Supernovae from the ZTF Bright Transient Survey
  • 2023
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 948:1
  • Journal article (peer-reviewed)abstract
    • Among the supernovae (SNe) that show strong interaction with a circumstellar medium (CSM), there is a rare subclass of Type Ia supernovae, SNe Ia-CSM, which show strong narrow hydrogen emission lines much like SNe IIn but on top of a diluted Type Ia spectrum. The only previous systematic study of this class identified 16 SNe Ia-CSM, eight historic and eight from the Palomar Transient Factory (PTF). Now using the successor survey to PTF, the Zwicky Transient Facility (ZTF), we have classified 12 additional SNe Ia-CSM through the systematic Bright Transient Survey (BTS). Consistent with previous studies, we find these SNe to have slowly evolving optical light curves with peak absolute magnitudes between -19.1 and -21, spectra having weak H ss and large Balmer ldecrements of similar to 7. Out of the 10 SNe from our sample observed by NEOWISE, nine have 3 sigma detections, with some SNe showing a reduction in the red wing of Ha, indicative of newly formed dust. We do not find our SN Ia-CSM sample to have a significantly different distribution of equivalent widths of He I.5876 than SNe IIn as observed in Silverman et al. The hosts tend to be late-type galaxies with recent star formation. We derive a rate estimate of 29+(27)(21) Gpc(-3) yr(-1) for SNe Ia-CSM, which is similar to 0.02%-0.2% of the SN Ia rate. We also identify six ambiguous SNe IIn/Ia-CSM in the BTS sample and including them gives an upper limit rate of 0.07%-0.8%. This work nearly doubles the sample of well-studied Ia-CSM objects in Silverman et al., increasing the total number to 28.
  •  
45.
  • Sodergren, Erica, et al. (author)
  • The genome of the sea urchin Strongylocentrotus purpuratus.
  • 2006
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 314:5801, s. 941-52
  • Journal article (peer-reviewed)abstract
    • We report the sequence and analysis of the 814-megabase genome of the sea urchin Strongylocentrotus purpuratus, a model for developmental and systems biology. The sequencing strategy combined whole-genome shotgun and bacterial artificial chromosome (BAC) sequences. This use of BAC clones, aided by a pooling strategy, overcame difficulties associated with high heterozygosity of the genome. The genome encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside the deuterostomes. This echinoderm genome provides an evolutionary outgroup for the chordates and yields insights into the evolution of deuterostomes.
  •  
46.
  • Strotjohann, Nora L., et al. (author)
  • Bright, Months-long Stellar Outbursts Announce the Explosion of Interaction-powered Supernovae
  • 2021
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 907:2
  • Journal article (peer-reviewed)abstract
    • Interaction-powered supernovae (SNe) explode within an optically thick circumstellar medium (CSM) that could be ejected during eruptive events. To identify and characterize such pre-explosion outbursts, we produce forced-photometry light curves for 196 interacting SNe, mostly of Type IIn, detected by the Zwicky Transient Facility between early 2018 and 2020 June. Extensive tests demonstrate that we only expect a few false detections among the 70,000 analyzed pre-explosion images after applying quality cuts and bias corrections. We detect precursor eruptions prior to 18 Type IIn SNe and prior to the Type Ibn SN 2019uo. Precursors become brighter and more frequent in the last months before the SN and month-long outbursts brighter than magnitude -13 occur prior to 25% (5-69%, 95% confidence range) of all Type IIn SNe within the final three months before the explosion. With radiative energies of up to 10(49) erg, precursors could eject similar to 1 M of material. Nevertheless, SNe with detected precursors are not significantly more luminous than other SNe IIn, and the characteristic narrow hydrogen lines in their spectra typically originate from earlier, undetected mass-loss events. The long precursor durations require ongoing energy injection, and they could, for example, be powered by interaction or by a continuum-driven wind. Instabilities during the neon- and oxygen-burning phases are predicted to launch precursors in the final years to months before the explosion; however, the brightest precursor is 100 times more energetic than anticipated.
  •  
47.
  • Tegegne, Newayemedhin A., et al. (author)
  • Tailoring intra-molecular coupling in BDT-based copolymers to enhance their performance in fullerene-free organic solar cells
  • 2023
  • In: Materials Advances. - 2633-5409. ; 4:24, s. 6694-6703
  • Journal article (peer-reviewed)abstract
    • Three copolymers based on a 4,8-bis(4,5-dioctylthiophen-2-yl)benzo[1,2-b:4,5-b ']dithiophene (BDTT) donor unit coupled with 6-(2-ethylhexyl)-5H-[1,2,5]thiadiazolo[3,4-f]isoindole-5,7(6H)-dione (P1), 6-octyl-4,8-di(thiophen-2-yl)-5H-[1,2,5]thiadiazolo[3,4-f]isoindole-5,7(6H)-dione (P2) and 2-(2-ethylhexyl)-6-octyl-4,8-di(thiophen-2-yl)-[1,2,3]triazolo[4,5-f]isoindole-5,7(2H,6H)-dione (P3) acceptors were computationally designed and experimentally synthesized to tailor the intramolecular coupling in their backbone. A considerable decrease in distortion energy in P2 compared to P1 proved the major role of the pi-spacer in the copolymer in releasing steric strain. In comparison to the [1,2,3]triazolo[4,5-f]isoindole-5,7(2H,6H)-dione-based copolymer, P3, the lower electrostatic potential (ESP) of the [1,2,5]thiadiazolo[3,4-f]isoindole-5,7(6H)-dione acceptor in P1 has been observed to shift its LUMO energy level by about 0.5 eV. Furthermore, the electron donating properties of the copolymers increased in the order of P1 < P2 < P3 due to the synergistic contribution of each unit rather than a single unit, confirming the importance of tailoring the intramolecular coupling to control the electro-optical properties of the copolymers. Finally, the copolymer with a poorer electron acceptor unit (P3) was found to exhibit complementary absorption with the non-fullerene acceptor, ITIC, yielding a PCE of 8.87% in solar cell devices, further demonstrating the relevance of each unit in the copolymer intramolecular coupling.
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