| 1. |
- Aad, G, et al.
(author)
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- 2015
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swepub:Mat__t
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| 2. |
- Sliz, E., et al.
(author)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Journal article (peer-reviewed)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 3. |
- Tabassum, R, et al.
(author)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Journal article (peer-reviewed)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 4. |
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| 5. |
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| 6. |
- House, J, et al.
(author)
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Climate and air quality
- 2006
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In: Millennium Ecosystem Assessment 2005 - Current State and Trends. Findings of the Condition and Trends Working Group (Ecosystems and Human Well-being). ; 1, s. 350-390
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Book chapter (other academic/artistic)
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| 7. |
- Ameen, Carly, et al.
(author)
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Specialized sledge dogs accompanied Inuit dispersal across the North American Arctic
- 2019
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In: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 286:1916
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Journal article (peer-reviewed)abstract
- Domestic dogs have been central to life in the North American Arctic for millennia. The ancestors of the Inuit were the first to introduce the widespread usage of dog sledge transportation technology to the Americas, but whether the Inuit adopted local Palaeo-Inuit dogs or introduced a new dog population to the region remains unknown. To test these hypotheses, we generated mitochondrial DNA and geometric morphometric data of skull and dental elements from a total of 922 North American Arctic dogs and wolves spanning over 4500 years. Our analyses revealed that dogs from Inuit sites dating from 2000 BP possess morphological and genetic signatures that distinguish them from earlier Palaeo-Inuit dogs, and identified a novel mitochondrial clade in eastern Siberia and Alaska. The genetic legacy of these Inuit dogs survives today in modern Arctic sledge dogs despite phenotypic differences between archaeological and modern Arctic dogs. Together, our data reveal that Inuit dogs derive from a secondary pre-contact migration of dogs distinct from Palaeo-Inuit dogs, and probably aided the Inuit expansion across the North American Arctic beginning around 1000 BP.
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| 8. |
- Betts, Marissa J., et al.
(author)
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A new early Cambrian bradoriid (Arthropoda) assemblage from the northern Flinders Ranges, South Australia
- 2014
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In: Gondwana Research. - : Elsevier BV. - 1342-937X .- 1878-0571. ; 25, s. 420-437
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Journal article (peer-reviewed)abstract
- A new assemblage of early Cambrian bivalved arthropods (Bradoriida) is described from the Arrowie Syncline in the northern Flinders Ranges, South Australia. The well preserved, largely endemic fauna comprises a total of six taxa (including five new species): Jiucunella phaseloa sp. nov., Jixinlingella daimonikoa sp. nov., Mongolitubulus anthelios sp. nov., Neokunmingella moroensis sp. nov., Phasoia cf. spicata ( Öpik, 1968), and Sinskolutella cuspidata sp. nov. This assemblage is derived from a carbonate sedimentary package representing a high energy, shallow water archaeocyath-Renalcis biohermal facies of Terreneuvian, Stage 2 age which transitions up-section to a more restricted, low energy, intra-shelf lagoonal environment that correlates with a Cambrian Series 2, Stage 3 age. The new taxon J. phaseloa sp. nov., has a first appearance datum (FAD) in shallow water biohermal facies of the Hideaway Well Member of the Wilkawillina Limestone at a level 47 m below the FAD of Pelagiella subangulata which is taken to approximate the base of Series 2, Stage 3 in South Australia. Along with Liangshanella circumbolina, this makes J. phaseloa sp. nov. amongst the oldest bivalved arthropods in South Australia and potentially greater Gondwana. The presence of 25 bradoriid taxa from the early Cambrian of South Australia suggests East Gondwana represents a major centre of origin for the Bradoriida.
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| 9. |
- Betts, Marissa, J., et al.
(author)
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A new lower Cambrian shelly fossil biostratigraphy for South Australia
- 2016
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In: Gondwana Research. - : Elsevier BV. - 1342-937X .- 1878-0571. ; 36, s. 163-195
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Journal article (peer-reviewed)abstract
- Definition of early Cambrian chronostratigraphic boundaries is problematic with many subdivisions stillawaiting ratification. Integrated multi-proxy data from well-resolved regional-scale schemes are ultimately the key to resolving broader issues of global correlationwithin the Cambrian. In Australia, early Cambrian biostratigraphy has been based predominantly on trilobites. Phosphatic shelly fauna have great potential as biostratigraphic tools, especially in pre-trilobitic strata because they are widespread and readily preserved, but they have remained underutilised. Here we demonstrate their value in a new biostratigraphic scheme for the early Cambrian of South Australia using a diverse shelly fauna including tommotiids, brachiopods, molluscs and bradoriids. Biostratigraphic data are derived from ten measured stratigraphic sections across the Arrowie Basin, targeting Hawker Group carbonates including the Wilkawillina, Wirrapowie and Ajax limestones and the Mernmerna Formation. The stratigraphic ranges of shelly fossils are predictable and repeatable across the Arrowie Basin, allowing three discrete shelly biozones to be identified, spanning Terreneuvian, Stage 2 to Series 2, Stages 3–4. The Kulparina rostrata Zone (new) and part of the overlyingMicrina etheridgei Zone (new) are pre-trilobitic (predominantly Terreneuvian). The Cambrian Series 2, Stage 3 Dailyatia odyssei Zone (new) features a very diverse shelly fauna and will be described in detail in a separate publication. These zones provide robust means to correlate Terreneuvian–Series 2 successions in neighbouring coeval basins in Australia, particularly the Stansbury Basin. Wider correlation is possible throughout East Gondwana, and especially with South China.
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| 10. |
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| 11. |
- Betts, Marissa, J., et al.
(author)
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Early Cambrian chronostratigraphy and geochronology of South Australia
- 2018
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In: Earth-Science Reviews. - : Elsevier BV. - 0012-8252 .- 1872-6828. ; 185, s. 498-543
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Journal article (peer-reviewed)abstract
- The most successful chronostratigraphic correlation methods enlist multiple proxies such as biostratigraphy and chemostratigraphy to constrain the timing of globally important bio- and geo-events. Here we present the first regional, high-resolution shelly fossil biostratigraphy integrated with δ13C chemostratigraphy (and corresponding δ18O data) from the traditional lower Cambrian (Terreneuvian and provisional Cambrian Series 2) of South Australia. The global ZHUCE, SHICE, positive excursions II and III and the CARE are captured in lower Cambrian successions from the Arrowie and Stansbury basins. The South Australian shelly fossil biostratigraphy has a consistent relationship with the δ13C results, bolstering interpretation, identification and correlation of the excursions. Positive excursion II straddles the boundary between the Kulparina rostrata and Micrina etheridgei zones, and the CARE straddles the boundary between the M. etheridgei and Dailyatia odyssei zones, peaking in the lower parts of the latter zone. New CA-TIMS zircon dates from the upper Hawker Group and Billy Creek Formation provide geochronologic calibration points for the upper D. odyssei Zone and corresponding chemostratigraphic curve, embedding the lower Cambrian successions from South Australia into a global chronostratigraphic context. This multi-proxy investigation demonstrates the power of integrated methods for developing regional biostratigraphic schemes and facilitating robust global correlation of lower Cambrian successions from South Australia (part of East Gondwana) with coeval terranes on other Cambrian palaeocontinents, including South and North China, Siberia, Laurentia, Avalonia and West Gondwana.
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| 12. |
- Betts, Marissa, J., et al.
(author)
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Global correlation of the early Cambrian of South Australia: Shelly faunaof the Dailyatia odyssei Zone
- 2017
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In: Gondwana Research. - Amsterdam : Elsevier BV. - 1342-937X .- 1878-0571. ; 46, s. 240-279
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Journal article (peer-reviewed)abstract
- A lack of well resolved biostratigraphic data has prevented robust regional and global correlation of lower Cambriansuccessions from South Australia. A new early Cambrian biostratigraphy, based on data derived from 21measured stratigraphic sections and drill cores (11 described herein) reveals the abundance and diversity ofshelly fauna from the Arrowie Basin, and the value of early Cambrian “small shelly fossils” (SSF) for biostratigraphicstudies. Here we examine shelly fauna associated with the youngest of three recently establishedbiozones, the Dailyatia odyssei Taxon Range Zone (hereafter D. odyssei Zone), and their correlative potential.The D. odyssei Zone features a diverse suite of tommotiids, organophosphatic brachiopods, bradoriid arthropods,molluscs and phosphatic problematica. This fauna permits strong correlation (often at species-level) with othermajor early Cambrian terranes, particularly Antarctica, South China and Laurentia, and suggest a Cambrian Series2, Stages 3–4 age for the D. odyssei Zone. Bradoriids have proven to be useful biostratigraphic tools. Four newspeciesand three new genera are described herein: Acutobalteus sinuosus gen. et sp. nov., Eozhexiella adnyamathanha gen. etsp. nov., Manawarra jonesi gen. et sp. nov. and Mongolitubulus descensus sp. nov. The description of Eohadrotreta sp.cf. zhenbaensis represents the first occurrence of the acrotretoid brachiopod Eohadrotreta from Australia.
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| 13. |
- Betts, Marissa, J., et al.
(author)
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Shelly fossils from the lower Cambrian White Point Conglomerate, Kangaroo Island, South Australia
- 2019
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In: Acta Palaeontologica Polonica. - : Polska Akademia Nauk Instytut Paleobiologii (Institute of Paleobiology, Polish Academy of Sciences). - 0567-7920 .- 1732-2421. ; 64:3, s. 489-522
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Journal article (peer-reviewed)abstract
- The lower Cambrian (Series 2) White Point Conglomerate (WPC) on Kangaroo Island, South Australia contains exoticclasts representing a diverse array of lithologies, including metamorphics, chert, sandstone, and abundant carbonates,notably archaeocyath-rich bioclastic limestone. Acetic acid digestion of the WPC bioclastic limestone clasts reveals adiverse shelly fauna. This assemblage includes abundant organophosphatic brachiopods such as Cordatia erinae Brockand Claybourn gen. et sp. nov., Curdus pararaensis, Eodicellomus elkaniformiis, Eohadrotreta sp. cf. E. zhenbaensis,Eoobolus sp., Kyrshabaktella davidii, and Schizopholis yorkensis. Additional shelly taxa include the solenopleurid trilobiteTrachoparia? sp., the tommotiids Dailyatia odyssei, Dailyatia decobruta Betts sp. nov., Kelanella sp., and Lapworthellafasciculata, spines of the bradoriid arthropod Mongolitubulus squamifer, and several problematica, such as Stoibostrombuscrenulatus and a variety of tubular forms. The upper age limit for the WPC is constrained by biostratigraphic data fromthe overlying Marsden Sandstone and Emu Bay Shale, which are no younger than the Pararaia janeae Trilobite Zone(Cambrian Series 2, Stage 4). The shelly fossil assemblage from the WPC limestone clasts indicates an upper Dailyatiaodyssei Zone (= Pararaia tatei to lower P. janeae trilobite zones), equivalent to the Atdabanian–early Botoman of theSiberian scheme. This contrasts with the previously suggested late Botoman age for the limestone clasts, based on the diversearchaeocyath assemblage. The minor age difference between the WPC and its fossiliferous limestone clasts suggestsrelatively rapid reworking of biohermal buildups during tectonically-active phases of deposition in the Stansbury Basin.
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| 14. |
- Bliss, Martin, et al.
(author)
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Spectral Response Measurements of Perovskite Solar Cells
- 2019
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In: IEEE Journal of Photovoltaics. - : IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC. - 2156-3381 .- 2156-3403. ; 9:1, s. 220-226
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Journal article (peer-reviewed)abstract
- A new spectral response (SR) measurement routine is proposed that is universally applicable for all perovskite devices. It is aimed at improving measurement accuracy and repeatability of SR curves and current-voltage curve spectral mismatch factor (MMF) corrections. Frequency response, effects of preconditioning as well as dependency on incident light intensity and voltage load on SR measurements are characterized on two differently structured perovskite device types. It is shown that device preconditioning affects the SR shape, causing errors in spectral MMF corrections of up to 0.8% when using a reference cell with a good spectral match and a class A solar simulator. Wavelength dependent response to incident light intensity and voltage load is observed on both device types, which highlights the need to measure at short-circuit current and maximum power point to correct spectral mismatch. The method with recommendations given ensures that the correct measurement conditions are applied and measurements are corrected for instability in performance.
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| 15. |
- Buggert, Marcus, et al.
(author)
-
CD4+ T cells with an activated and exhausted phenotype distinguish immunodeficiency during aviremic HIV-2 infection
- 2016
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In: AIDS. - 0269-9370. ; 30:16, s. 2415-2426
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Journal article (peer-reviewed)abstract
- OBJECTIVE:: HIV-2 represents an attenuated form of HIV, where many infected individuals remain “aviremic” without antiretroviral therapy (ART). However, aviremic HIV-2 disease progression exits, and in the current study we therefore aimed to examine if specific pathological characteristics of CD4+ T cells are linked to such outcome. DESIGN:: HIV-seronegative (n=25), HIV-1 (n?=?33), HIV-2 (n?=?39, of whom 26 were aviremic), and HIV-1/2 dually (HIV-D) (n?=?13) infected subjects were enrolled from an occupational cohort in Guinea-Bissau. METHODS:: CD4+ T cell differentiation, activation, exhaustion, senescence, and transcription factors were assessed by polychromatic flow cytometry. Multidimensional clustering bioinformatic tools were used to identify CD4+ T cell subpopulations linked to infection type and disease stage. RESULTS:: HIV-2-infected individuals had early- and late-differentiated CD4+ T cell clusters with lower activation (CD38+HLA-DR+) and exhaustion (PD-1) than HIV-1 and HIV-D-infected subjects. We also noted that aviremic HIV-2-infected individuals possessed fewer CD4+ T cells with pathological signs compared to other HIV-infected groups. Still, compared to HIV-seronegatives, aviremic HIV-2-infected subjects had T-bet+ CD4+ T cells that showed elevated immune activation/exhaustion, and particularly the frequencies of PD-1+ cells were associated with suboptimal percentage of CD4+ T cells. CONCLUSIONS:: Increased frequencies of CD4+ T cells with an activated/exhausted phenotype correlate with exacerbated immunodeficiency in aviremic HIV-2-infected individuals. Thus, these findings encourage studies on the introduction of ART also to individuals with aviremic HIV-2 infection.
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| 16. |
- Buggert, Marcus, et al.
(author)
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Limited immune surveillance in lymphoid tissue by cytolytic CD4+ T cells during health and HIV disease
- 2018
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In: PLoS Pathogens. - : Public Library of Science (PLoS). - 1553-7374. ; 14:4
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Journal article (peer-reviewed)abstract
- CD4+ T cells subsets have a wide range of important helper and regulatory functions in the immune system. Several studies have specifically suggested that circulating effector CD4+ T cells may play a direct role in control of HIV replication through cytolytic activity or autocrine β-chemokine production. However, it remains unclear whether effector CD4+ T cells expressing cytolytic molecules and β-chemokines are present within lymph nodes (LNs), a major site of HIV replication. Here, we report that expression of β-chemokines and cytolytic molecules are enriched within a CD4+ T cell population with high levels of the T-box transcription factors T-bet and eomesodermin (Eomes). This effector population is predominately found in peripheral blood and is limited in LNs regardless of HIV infection or treatment status. As a result, CD4+ T cells generally lack effector functions in LNs, including cytolytic capacity and IFNγ and β-chemokine expression, even in HIV elite controllers and during acute/early HIV infection. While we do find the presence of degranulating CD4+ T cells in LNs, these cells do not bear functional or transcriptional effector T cell properties and are inherently poor to form stable immunological synapses compared to their peripheral blood counterparts. We demonstrate that CD4+ T cell cytolytic function, phenotype, and programming in the peripheral blood is dissociated from those characteristics found in lymphoid tissues. Together, these data challenge our current models based on blood and suggest spatially and temporally dissociated mechanisms of viral control in lymphoid tissues.
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| 17. |
- Buggert, Marcus, et al.
(author)
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T-bet and Eomes Are Differentially Linked to the Exhausted Phenotype of CD8+ T Cells in HIV Infection.
- 2014
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In: PLoS Pathogens. - : Public Library of Science (PLoS). - 1553-7366 .- 1553-7374. ; 10:7
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Journal article (peer-reviewed)abstract
- CD8+ T cell exhaustion represents a major hallmark of chronic HIV infection. Two key transcription factors governing CD8+ T cell differentiation, T-bet and Eomesodermin (Eomes), have previously been shown in mice to differentially regulate T cell exhaustion in part through direct modulation of PD-1. Here, we examined the relationship between these transcription factors and the expression of several inhibitory receptors (PD-1, CD160, and 2B4), functional characteristics and memory differentiation of CD8+ T cells in chronic and treated HIV infection. The expression of PD-1, CD160, and 2B4 on total CD8+ T cells was elevated in chronically infected individuals and highly associated with a T-betdimEomeshi expressional profile. Interestingly, both resting and activated HIV-specific CD8+ T cells in chronic infection were almost exclusively T-betdimEomeshi cells, while CMV-specific CD8+ T cells displayed a balanced expression pattern of T-bet and Eomes. The T-betdimEomeshi virus-specific CD8+ T cells did not show features of terminal differentiation, but rather a transitional memory phenotype with poor polyfunctional (effector) characteristics. The transitional and exhausted phenotype of HIV-specific CD8+ T cells was longitudinally related to persistent Eomes expression after antiretroviral therapy (ART) initiation. Strikingly, these characteristics remained stable up to 10 years after ART initiation. This study supports the concept that poor human viral-specific CD8+ T cell functionality is due to an inverse expression balance between T-bet and Eomes, which is not reversed despite long-term viral control through ART. These results aid to explain the inability of HIV-specific CD8+ T cells to control the viral replication post-ART cessation.
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| 18. |
- Caretta, Martina Angela, et al.
(author)
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Water
- 2022
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In: Climate Change 2022: Impacts, Adaptation and Vulnerability : Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change - Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change.
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Book chapter (other academic/artistic)
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| 19. |
- Corbin, Kendall R., et al.
(author)
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Grape marc as a source of carbohydrates for bioethanol : Chemical composition, pre-treatment and saccharification.
- 2015
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In: Bioresource Technology. - : Elsevier. - 0960-8524 .- 1873-2976. ; 193, s. 76-83
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Journal article (peer-reviewed)abstract
- Global grape production could generate up to 13 Mt/yr of wasted biomass. The compositions of Cabernet Sauvignon (red marc) and Sauvignon Blanc (white marc) were analyzed with a view to using marc as raw material for biofuel production. On a dry weight basis, 31-54% w/w of the grape marc consisted of carbohydrate, of which 47-80% was soluble in aqueous media. Ethanol insoluble residues consisted mainly of polyphenols, pectic polysaccharides, heteroxylans and cellulose. Acid and thermal pre-treatments were investigated for their effects on subsequent cellulose saccharification. A 0.5M sulfuric acid pre-treatment yielded a 10% increase in the amount of liberated glucose after enzymatic saccharification. The theoretical amount of bioethanol that could be produced by fermentation of grape marc was up to 400 L/t. However, bioethanol from only soluble carbohydrates could yield 270 L/t, leaving a polyphenol enriched fraction that may be used in animal feed or as fertilizer.
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| 20. |
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| 21. |
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| 22. |
- Hall, F.G., et al.
(author)
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The boreal climate.
- 2004
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In: Vegetation, Water, Humans and Climate. A New Perspective on an Interactive System.. - : Springer Verlag: Berlin-New York. - 3540424008 ; , s. 119-150
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Book chapter (peer-reviewed)
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| 23. |
- Jacquet, Sarah, M., et al.
(author)
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Watsonella crosbyi from the lower Cambrian (Terreneuvian, Stage 2) Normanville Group in South Australia
- 2016
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In: Geological Magazine. - 0016-7568 .- 1469-5081. ; , s. 1-17
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Journal article (peer-reviewed)abstract
- Correlation of lower Cambrian strata is often confounded by provincialism of key fauna. The widespread occurrence of themicromollusc Watsonella crosbyi Grabau, 1900 is therefore an important biostratigraphic signpost with potential for international correlation of lower Cambrian successions. Previous correlations of W. crosbyi from Australia (Normanville Group) suggested an Atdabanian- to Botoman-equivalent age. However, in the upper part of the Mount Terrible Formation, stratigraphic ranges of W. crosbyi and Aldanella sp. cf. golubevi overlap prior to the incoming of vertically burrowed ‘piperock’, which is indicative of an age no earlier than Cambrian Stage 2. The stratigraphic range of W. crosbyi in the Normanville Group, South Australia correlates with the ranges of the taxon in China, France, Mongolia and Siberia (though not Newfoundland). The new Australian data add further support for considering the first occurrence of W. crosbyi a good potential candidate for defining the base of Cambrian Stage 2. The stratigraphic range of W. crosbyi through the lower Cambrian Normanville Group has been determined based on collections from measured sections. Although rare, W. crosbyi is part of an assemblage of micromolluscs including Bemella sp., Parailsanella sp. cf. murenica and a sinistral form of Aldanella (A. sp. cf. A. golubevi). Other fauna present include Australohalkieria sp., Eremactis mawsoni, chancelloriids and Cupitheca sp.
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| 24. |
- Levy, Sydney, et al.
(author)
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Genetic mechanisms underlying arrhythmogenic mitral valve prolapse : Current and future perspectives
- 2023
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In: Heart Rhythm O2. - 2666-5018. ; 4:9, s. 581-591
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Research review (peer-reviewed)abstract
- Mitral valve prolapse (MVP) is a heart valve disease that is often familial, affecting 2%–3% of the general population. MVP with or without mitral regurgitation can be associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Research on familial MVP has specifically focused on genetic factors, which may explain the heritable component of the disease estimated to be present in 20%–35%. Furthermore, the structural and electrophysiological substrates underlying SCD/ventricular arrhythmia risk in MVP have been studied postmortem and in the electrophysiology laboratory, respectively. Understanding how familial MVP and rhythm disorders are related may help patients with MVP by individualizing risk and working to develop effective management strategies. This contemporary, state-of-the-art, expert review focuses on genetic factors and familial components that underlie MVP and arrhythmia and encapsulates clinical, genetic, and electrophysiological issues that should be the objectives of future research.
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| 25. |
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