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Sökning: WFRF:(Hughes Nigel C.)

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1.
  • Craddock, Nick, et al. (författare)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Tidskriftsartikel (refereegranskat)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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2.
  • Falster, Daniel, et al. (författare)
  • AusTraits, a curated plant trait database for the Australian flora
  • 2021
  • Ingår i: Scientific Data. - : Nature Portfolio. - 2052-4463. ; 8:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We introduce the AusTraits database - a compilation of values of plant traits for taxa in the Australian flora (hereafter AusTraits). AusTraits synthesises data on 448 traits across 28,640 taxa from field campaigns, published literature, taxonomic monographs, and individual taxon descriptions. Traits vary in scope from physiological measures of performance (e.g. photosynthetic gas exchange, water-use efficiency) to morphological attributes (e.g. leaf area, seed mass, plant height) which link to aspects of ecological variation. AusTraits contains curated and harmonised individual- and species-level measurements coupled to, where available, contextual information on site properties and experimental conditions. This article provides information on version 3.0.2 of AusTraits which contains data for 997,808 trait-by-taxon combinations. We envision AusTraits as an ongoing collaborative initiative for easily archiving and sharing trait data, which also provides a template for other national or regional initiatives globally to fill persistent gaps in trait knowledge.
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3.
  • Amano, Tatsuya, et al. (författare)
  • Transforming Practice : Checklists for Delivering Change
  • 2022
  • Ingår i: Transforming Conservation : A Practical Guide to Evidence and Decision Making - A Practical Guide to Evidence and Decision Making. - 9781800648562 - 9781800648586 ; , s. 367-386
  • Bokkapitel (refereegranskat)abstract
    • Delivering a revolution in evidence use requires a cultural change across society. For a wide range of groups (practitioners, knowledge brokers, organisations, organisational leaders, policy makers, funders, researchers, journal publishers, the wider conservation community, educators, writers, and journalists), options are described to facilitate a change in practice, and a series of downloadable checklists is provided.
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4.
  • Álvaro, J. Javier, et al. (författare)
  • Global Cambrian trilobite palaeobiogeography assessed using parsimony analysis of endemicity
  • 2013
  • Ingår i: Early Palaeozoic Biogeography and Palaeogeography. - 0435-4052. - 9781862393738 ; Memoir 38:38, s. 273-296
  • Bokkapitel (refereegranskat)abstract
    • Palaeobiogeographical data on Cambrian trilobites obtained during the twentieth century are combined in this paper to evaluate palaeoceanographic links through c. 30 myr, once these arthropods biomineralized. Worldwide major tectonostratigraphic units are characterized at series intervals of Cambrian time and datasets of trilobite genera (629 for Cambrian Series 2, 965 for Cambrian Series 3, and 866 for the Furongian Series) are analysed using parsimony analysis of endemicity. Special attention is given to the biogeographical observations made in microcontinents and exotic terranes. The same is done for platform-basinal transects of well-known continental margins. The parsimony analysis of endemicity analysis resulted in distinct palaeogeographical area groupings among the tectonostratigraphic units. With these groupings, several palaeobiogeographical units are distinguished, which do not necessarily fit the previously proposed biogeographical realms and provinces. Their development and spatial distributions are broadly controlled by Cambrian palaeoclimates, palaeogeographical conditions (e.g. carbonate productivity and anoxic conditions) and ocean current circulation.
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5.
  • Betts, Marissa J., et al. (författare)
  • First multi-proxy chronostratigraphy of the lower Cambrian Byrd Group, Transantarctic Mountains and correlation within East Gondwana
  • 2024
  • Ingår i: Gondwana Research. - : Elsevier. - 1342-937X .- 1878-0571.
  • Tidskriftsartikel (refereegranskat)abstract
    • Antarctica and Australia were sutured together at the equator during the major pulse of animal biodiversification associated with the Cambrian radiation. However, the lack of detailed systematic chemostratigraphic and biostratigraphic sampling of lower Cambrian sedimentary successions from Antarctica has significantly impeded precise age determination and correlation with Cambrian strata on other palaeocontinents. This study is the first to present integrated, simultaneously sampled biostratigraphic and chemostratigraphic (δ13C isotopes) data from the same measured stratigraphic sections through the lower Cambrian Byrd Group in the Transantarctic Mountains. Shelly fossil assemblages (brachiopods, tommotiids, molluscs, bradoriids, trilobites) from the Holyoake Range and Churchill Mountains facilitate direct correlation with the Dailyatia odyssei Zone of South Australia (Cambrian Stages 3–4), and trilobites provide strong correlation between the Starshot Formation and the Cymbric Vale Formation in western New South Wales. A new ID-TIMS radiometric date of 514.96 ± 0.16 Ma from a tuff in the lower Cymbric Vale Formation is similar to dates from tuff beds in the Third Plain Creek Member of the Mernmerna Formation in the Flinders Ranges, providing an important absolute-age tie point between these lower Cambrian successions. Chemostratigraphic data from the upper Shackleton Limestone in the Holyoake Range capture a negative δ13C excursion that correlates closely with the global Sinsk event. This excursion occurs between positive δ13C values that likely represent lower parts of the MICE (cycles V–VIII in Siberia). Integrated faunal and chemostratigraphic data indicate a Cambrian Stages 3–4 age, giving robust chronostratigraphic context for the upper Shackleton Limestone–Holyoake Formation–Starshot Formation succession for the first time, permitting reconstruction of the depositional history of the lower Cambrian of Antarctica and global correlation of Byrd Group strata.
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6.
  • Betts, Marissa J, et al. (författare)
  • Integrated chronostratigraphy of the lower Cambrian Byrd Group, Transantarctic Mountains
  • Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
    • Antarctica and Australia were sutured together straddling the equator during the major pulse of animal biodiversification associated with the Cambrian radiation. However, lack of detailed systematic sampling of lower Cambrian sedimentary packages from Antarctica has significantly impeded precise age determination and correlation with other Cambrian paleocontinents, especially with other parts of East Gondwana. Here were present new, integrated biostratigraphic and chemostratigraphic (δ13C isotopes) data from three stratigraphic sections measured through autochthonous shallow water carbonates (including archaeocyath-microbial bioherms) from the lower Cambrian Byrd Group in the Transantarctic Mountains. Recovered shelly fossil assemblages (brachiopods, tommotiids, molluscs, trilobites) from the Holyoake and Churchill Ranges include conspecific taxa previously described from Hawker Group rocks in the Arrowie Basin of South Australia facilitating direct correlation with the upper Dailyatia odyssei biozone. Synchronous chemostratigraphic data capture a distinctive positive ?13C excursion in the Churchill Range interpreted as the global Mingxinsi Carbon Isotope Excursion (MICE) peak. A succeeding gradual negative ?13C excursion captured in the Churchill and Holyoake sections is interpreted as the global Archaeocyathid Extinction Carbon Isotope Excursion (AECE) event. There is no chemostratigraphic evidence for the large Redlichiid-Olenellid Extinction Carbon Isotope Excursion (ROECE) negative event that straddles and defines the Cambrian Stage 4 – Miaolingian boundary. Hence, the integrated faunal and new chemostratigraphic data presented herein strongly support a Cambrian Stage 4 age for the upper Shackleton Limestone – Holyoake Formation – Starshot Formation succession of the Byrd Group.
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7.
  • Daley, Allison (författare)
  • The morphology and evolutionary significance of the anomalocaridids
  • 2010
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Approximately 600 to 500 million years ago, a major evolutionary radiation called the “Cambrian Explosion” gave rise to nearly all of the major animal phyla known today. This radiation is recorded by various fossil lagerstätten, such as the Burgess Shale in Canada, where soft-bodied animals are preserved in exquisite detail. Many Cambrian fossils are enigmatic forms that are morphologically dissimilar to their modern descendants, but which still provide valuable information when interpreted as stem-group taxa because they record the actual progression of evolution and give insight into the order of character acquisitions and homologies between living taxa. One such group of fossils is the anomalocaridids, large presumed predators that have had a complicated history of description. Their body has a trunk with a series of lateral lobes and associated gills, and a cephalic region with a pair of large frontal appendages, a circular mouth apparatus, stalked eyes and a cephalic carapace. Originally, two taxa were described from the Burgess Shale, Anomalocaris and Laggania, however data presented herein suggests that the diversity of the anomalocaridids was much higher. Newly collected fossil material revealed that a third Burgess Shale anomalocaridid, Hurdia, is known from whole-body specimens and study of its morphology has helped to clarify the morphology and systematics of the whole group. Hurdia is distinguished by having mouthparts with extra rows of teeth, a unique frontal appendage, and a large frontal carapace. Two species, Hurdia victoria and Hurdia triangulata were distinguished based on morphometric shape analysis of the frontal carapace. A phylogenetic analysis placed the anomalocaridids in the stem lineage to the euarthropods, and examination of Hurdia’s well-preserved gills confirm the homology of this structure with the outer branches of limbs in upper stem-group arthropods. This homology supports the theory that the Cambrian biramous limb formed by the fusion of a uniramous walking limb with a lateral lobe structure bearing gill blades. In this context, new evidence is present on the closely allied taxon Opabinia, suggesting that it had lobopod walking limbs and a lateral lobe structure with attached Hurdia-like gills. The diversity of the anomalocaridids at the Burgess Shale is further increased by two additional taxa known from isolated frontal appendages. Amplectobelua stephenensis is the first occurrence of this genus outside of the Chengjiang fauna in China, but Caryosyntrips serratus is an appendage unique to the Burgess Shale. To gain a better understanding of global distribution, a possible anomalocaridid is also described from the Sirius Passet biota in North Greenland. Tamisiocaris borealis is known from a single appendage, which is similar to Anomalocaris but unsegmented, suggesting this taxon belongs to the arthropod stem-lineage, perhaps in the anomalocaridid clade. Thus, the anomalocaridids are a widely distributed and highly diverse group of large Cambrian presumed predators, which provide important information relevant to the evolution of the arthropods.
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8.
  • Gandaglia, Giorgio, et al. (författare)
  • Clinical Characterization of Patients Diagnosed with Prostate Cancer and Undergoing Conservative Management : A PIONEER Analysis Based on Big Data
  • 2024
  • Ingår i: European Urology. - 0302-2838. ; 85:5, s. 457-465
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Conservative management is an option for prostate cancer (PCa) patients either with the objective of delaying or even avoiding curative therapy, or to wait until palliative treatment is needed. PIONEER, funded by the European Commission Innovative Medicines Initiative, aims at improving PCa care across Europe through the application of big data analytics. Objective: To describe the clinical characteristics and long-term outcomes of PCa patients on conservative management by using an international large network of real-world data. Design, setting, and participants: From an initial cohort of >100 000 000 adult individuals included in eight databases evaluated during a virtual study-a-thon hosted by PIONEER, we identified newly diagnosed PCa cases (n = 527 311). Among those, we selected patients who did not receive curative or palliative treatment within 6 mo from diagnosis (n = 123 146). Outcome measurements and statistical analysis: Patient and disease characteristics were reported. The number of patients who experienced the main study outcomes was quantified for each stratum and the overall cohort. Kaplan-Meier analyses were used to estimate the distribution of time to event data. Results and limitations: The most common comorbidities were hypertension (35–73%), obesity (9.2–54%), and type 2 diabetes (11–28%). The rate of PCa-related symptomatic progression ranged between 2.6% and 6.2%. Hospitalization (12–25%) and emergency department visits (10–14%) were common events during the 1st year of follow-up. The probability of being free from both palliative and curative treatments decreased during follow-up. Limitations include a lack of information on patients and disease characteristics and on treatment intent. Conclusions: Our results allow us to better understand the current landscape of patients with PCa managed with conservative treatment. PIONEER offers a unique opportunity to characterize the baseline features and outcomes of PCa patients managed conservatively using real-world data. Patient summary: Up to 25% of men with prostate cancer (PCa) managed conservatively experienced hospitalization and emergency department visits within the 1st year after diagnosis; 6% experienced PCa-related symptoms. The probability of receiving therapies for PCa decreased according to time elapsed after the diagnosis.
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9.
  • Helje, Pärnaste, et al. (författare)
  • Lükati - a new Lower Cambrian Lagerstätte
  • 2017
  • Ingår i: 6th International Conference on Trilobites and their Relatives. Tallinn, Estonia, 7-10 July 2017. - Tallinn. - 9789949818617 ; , s. 32-33
  • Konferensbidrag (refereegranskat)
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10.
  • Popov, Leonid E., et al. (författare)
  • Himalayan Cambrian brachiopods
  • 2015
  • Ingår i: Papers in Palaeontology. - : Wiley. - 2056-2799 .- 2056-2802. ; 1:4, s. 345-399
  • Tidskriftsartikel (refereegranskat)abstract
    • A synoptic analysis of previously published material and new finds reveals that Himalayan Cambrian brachiopods can be referred to 18 genera, of which 17 are considered herein. These contain 20 taxa assigned to species, of which five are new: Eohadrotreta haydeni, Aphelotreta khemangarensis, Hadrotreta timchristiorum, Prototreta? sumnaensis and Amictocracens? brocki. Well-preserved topotype material from the classic Parahio Valley section is described for three species that have not previously been illustrated photographically. A biostratigraphical scheme based on Cambrian brachiopod occurrence is integrated with that recently proposed for trilobites. Regional correlations based on shared taxa within and across Himalayan lithotectonic belts demonstrate that erosion of Cambrian rocks in the Kurgiakh orogeny in the Parahio Valley removed little of the Parahio Formation and that all of the fossil-bearing lithotectonic zones share similar late early Cambrian brachiopods, suggesting regional faunal continuity at the time. Palaeobiogeographical analysis of the Cambrian brachiopod faunas from the Himalaya shows that they occupied a marginal position of the Australasian segment of Gondwana.
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11.
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12.
  • Watts, Nick, et al. (författare)
  • The 2020 report of The Lancet Countdown on health and climate change : responding to converging crises
  • 2021
  • Ingår i: The Lancet. - : Elsevier. - 0140-6736 .- 1474-547X. ; 397:10269, s. 129-170
  • Forskningsöversikt (refereegranskat)abstract
    • The Lancet Countdown is an international collaboration established to provide an independent, global monitoring system dedicated to tracking the emerging health profile of the changing climate.The 2020 report presents 43 indicators across five sections: climate change impacts, exposures, and vulnerabilities; adaptation, planning, and resilience for health; mitigation actions and health co-benefits; economics and finance; and public and political engagement. This report represents the findings and consensus of the 35 leading academic institutions and UN agencies that make up The Lancet Countdown, and draws on the expertise of climate scientists, geographers, engineers, experts in energy, food, and transport, economists, social, and political scientists, data scientists, public health professionals, and doctors.
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