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Sökning: WFRF:(Pla S.)

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1.
  • Glasbey, JC, et al. (författare)
  • 2021
  • swepub:Mat__t
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  • Laj, P., et al. (författare)
  • Measuring Atmospheric Composition Change
  • 2009
  • Ingår i: Atmospheric Environment. - : Elsevier BV. - 1873-2844 .- 1352-2310. ; 43:33, s. 5351-5414
  • Tidskriftsartikel (refereegranskat)abstract
    • Scientific findings from the last decades have clearly highlighted the need for a more comprehensive approach to atmospheric change processes. In fact, observation of atmospheric composition variables has been an important activity of atmospheric research that has developed instrumental tools (advanced analytical techniques) and platforms (instrumented passenger aircrafts, ground-based in-situ and remote sensing stations, earth observation satellite instruments) providing essential information on the composition of the atmosphere. The variability of the atmospheric system and the extreme complexity of the atmospheric cycles for short-lived gaseous and aerosol species have led to the development of complex models to interpret observations, test our theoretical understanding of atmospheric chemistry and predict future atmospheric composition. The validation of numerical models requires accurate information concerning the variability of atmospheric composition for targeted species via comparison with observations and measurements. In this paper, we provide an overview of recent advances in instrumentation and methodologies for measuring atmospheric composition changes from space, aircraft and the surface as well as recent improvements in laboratory techniques that permitted scientific advance in the field of atmospheric chemistry. Emphasis is given to the most promising and innovative technologies that will become operational in the near future to improve knowledge of atmospheric composition. Our current observation capacity, however, is not satisfactory to understand and predict future atmospheric composition changes, in relation to predicted climate warming. Based on the limitation of the current European observing system, we address the major gaps in a second part of the paper to explain why further developments in current observation strategies are still needed to strengthen and optimise an observing system not only capable of responding to the requirements of atmospheric services but also to newly open scientific questions.
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  • Malzbender, K., et al. (författare)
  • Validation, Deployment, and Real-World Implementation of a Modular Toolbox for Alzheimer’s Disease Detection and Dementia Risk Reduction: The AD-RIDDLE Project
  • 2024
  • Ingår i: Journal of Prevention of Alzheimer's Disease. - 2274-5807 .- 2426-0266. ; 11:2, s. 329-338
  • Tidskriftsartikel (refereegranskat)abstract
    • The Real-World Implementation, Deployment, and Validation of Early Detection Tools and Lifestyle Enhancement (AD-RIDDLE) project, recently launched with the support of the EU Innovative Health Initiative (IHI) public-private partnership and UK Research and Innovation (UKRI), aims to develop, test, and deploy a modular toolbox platform that can reduce existing barriers to the timely detection, and therapeutic approaches in Alzheimer’s disease (AD), thus accelerating AD innovation. By focusing on health system and health worker practices, AD-RIDDLE seeks to improve and smooth AD management at and between each key step of the clinical pathway and across the disease continuum, from at-risk asymptomatic stages to early symptomatic ones. This includes innovation and improvement in AD awareness, risk reduction and prevention, detection, diagnosis, and intervention. The 24 partners in the AD-RIDDLE interdisciplinary consortium will develop and test the AD-RIDDLE toolbox platform and its components individually and in combination in six European countries. Expected results from this cross-sectoral research collaboration include tools for earlier detection and accurate diagnosis; validated, novel digital cognitive and blood-based biomarkers; and improved access to individualized preventative interventions (including multimodal interventions and symptomatic/disease-modifying therapies) across diverse populations, within the framework of precision medicine. Overall, AD-RIDDLE toolbox platform will advance management of AD, improving outcomes for patients and their families, and reducing costs.
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  • Margalef, O., et al. (författare)
  • Environmental processes in Rano Aroi (Easter Island) peat geochemistry forced by climate variability during the last 70 kyr
  • 2014
  • Ingår i: Palaeogeography, Palaeoclimatology, Palaeoecology. - : Elsevier BV. - 0031-0182 .- 1872-616X. ; 414, s. 438-450
  • Tidskriftsartikel (refereegranskat)abstract
    • We analyze the geochemistry of Rano Aroi mire record (Easter Island) using bulk peat composition (C, N, S) and stable isotopes (delta C-13, delta N-15, delta S-34) and major, minor and trace elemental compositions obtained by ICP-AES (Al, Ti, Zr, Sc, V, Y, Fe, Mn, Th, Ba, Ca, Mg and Sr). Peat geochemistry and the pollen record are used to reconstruct the environmental changes during the last 70 kyr BP. Principal component analysis on ICP-AES data revealed that three main components account for the chemical signatures of the peat. The first component, characterized by lithogenic elements (combined signal of V. Al, Sc, Y, Cr, Cd, Ti, Zr and Cu), evidences long-term changes in the basal fluxes of mineral material into the mire. This component, in combination with stable isotopes and pollen data suggests a link between soil erosion and vegetation cover changes in the Rano Aroi watershed. The second component is identified by the signal of Fe, Mn, Th, Ba, Zr and Ti, and is indicative of strong runoff events during enhanced precipitation periods. The third component (tied mainly to Ca, Sr and Mg) reflects a strong peat oxidation event that occurred during an arid period with more frequent droughts, sometime between 39 and 31 kyr BP. Correlation coefficients and a multiple regression model (PCR analysis) between peat organic chemistry and the principal components of ICP-AES analysis were calculated. Isotope chemistry of the peat organic matter further contributes to define Rano Aroi environmental history: delta C-13 data corroborates a vegetation shift documented by the palynological record from C-4 to C-3 between 55 and 45 cal kyr BP; the delta N-15 record identifies periods of changes in mire productivity and denitrification processes, while the delta S-34 peat signature indicates a marine origin of S and significant diagenetic cycling. The geochemical and environmental evolution of Rano Aroi mire is coherent with the regional climatic variability and suggests that climate was the main forcing in mire evolution during the last 70 kyr BP. The coupling of geochemical and biological proxies improves our ability to decipher depositional processes in tropical and subtropical peatlands and to use these sequences for paleoenvironmental and paleoclimate reconstructions.
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  • Morales, Pablo, et al. (författare)
  • Comparing and evaluating process-based ecosystem model predictions of carbon and water fluxes in major European forest biomes
  • 2005
  • Ingår i: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 11:12, s. 2211-2233
  • Tidskriftsartikel (refereegranskat)abstract
    • Process-based models can be classified into: (a) terrestrial biogeochemical models (TBMs), which simulate fluxes of carbon, water and nitrogen coupled within terrestrial ecosystems, and (b) dynamic global vegetation models (DGVMs), which further couple these processes interactively with changes in slow ecosystem processes depending on resource competition, establishment, growth and mortality of different vegetation types. In this study, four models - RHESSys, GOTILWA+, LPJ-GUESS and ORCHIDEE - representing both modelling approaches were compared and evaluated against benchmarks provided by eddy-covariance measurements of carbon and water fluxes at 15 forest sites within the EUROFLUX project. Overall, model-measurement agreement varied greatly among sites. Both modelling approaches have somewhat different strengths, but there was no model among those tested that universally performed well on the two variables evaluated. Small biases and errors suggest that ORCHIDEE and GOTILWA+ performed better in simulating carbon fluxes while LPJ-GUESS and RHESSys did a better job in simulating water fluxes. In general, the models can be considered as useful tools for studies of climate change impacts on carbon and water cycling in forests. However, the various sources of variation among models simulations and between models simulations and observed data described in this study place some constraints on the results and to some extent reduce their reliability. For example, at most sites in the Mediterranean region all models generally performed poorly most likely because of problems in the representation of water stress effects on both carbon uptake by photosynthesis and carbon release by heterotrophic respiration (R-h). The use of flux data as a means of assessing key processes in models of this type is an important approach to improving model performance. Our results show that the models have value but that further model development is necessary with regard to the representation of the some of the key ecosystem processes.
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  • Staiger, E. A., et al. (författare)
  • The evolutionary history of the DMRT3 'Gait keeper' haplotype
  • 2017
  • Ingår i: Animal Genetics. - : WILEY. - 0268-9146 .- 1365-2052. ; 48:5, s. 551-559
  • Tidskriftsartikel (refereegranskat)abstract
    • A previous study revealed a strong association between the DMRT3:Ser301STOP mutation in horses and alternate gaits as well as performance in harness racing. Several follow-up studies have confirmed a high frequency of the mutation in gaited horse breeds and an effect on gait quality. The aim of this study was to determine when and where the mutation arose, to identify additional potential causal mutations and to determine the coalescence time for contemporary haplotypes carrying the stop mutation. We utilized sequences from 89 horses representing 26 breeds to identify 102 SNPs encompassing the DMRT3 gene that are in strong linkage disequilibrium with the stop mutation. These 102 SNPs were genotyped in an additional 382 horses representing 72 breeds, and we identified 14 unique haplotypes. The results provided conclusive evidence that DMRT3: Ser301STOP is causal, as no other sequence polymorphisms showed an equally strong association to locomotion traits. The low sequence diversity among mutant chromosomes demonstrated that they must have diverged from a common ancestral sequence within the last 10 000 years. Thus, the mutation occurred either just before domestication or more likely some time after domestication and then spread across the world as a result of selection on locomotion traits.
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  • Almeida, Natália, et al. (författare)
  • Mapping the melanoma plasma proteome (MPP) using single-shot proteomics interfaced with the WiMT database
  • 2021
  • Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 13:24
  • Tidskriftsartikel (refereegranskat)abstract
    • Plasma analysis by mass spectrometry-based proteomics remains a challenge due to its large dynamic range of 10 orders in magnitude. We created a methodology for protein identification known as Wise MS Transfer (WiMT). Melanoma plasma samples from biobank archives were directly analyzed using simple sample preparation. WiMT is based on MS1 features between several MS runs together with custom protein databases for ID generation. This entails a multi-level dynamic protein database with different immunodepletion strategies by applying single-shot proteomics. The highest number of melanoma plasma proteins from undepleted and unfractionated plasma was reported, mapping >1200 proteins from >10,000 protein sequences with confirmed significance scoring. Of these, more than 660 proteins were annotated by WiMT from the resulting ~5800 protein sequences. We could verify 4000 proteins by MS1t analysis from HeLA extracts. The WiMT platform provided an output in which 12 previously well-known candidate markers were identified. We also identified low-abundant proteins with functions related to (i) cell signaling, (ii) immune system regulators, and (iii) proteins regulating folding, sorting, and degradation, as well as (iv) vesicular transport proteins. WiMT holds the potential for use in large-scale screening studies with simple sample preparation, and can lead to the discovery of novel proteins with key melanoma disease functions.
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  • Betancourt, Lazaro Hiram, et al. (författare)
  • The human melanoma proteome atlas-Defining the molecular pathology
  • 2021
  • Ingår i: Clinical and Translational Medicine. - : Wiley. - 2001-1326. ; 11:7, s. 1-20
  • Tidskriftsartikel (refereegranskat)abstract
    • The MM500 study is an initiative to map the protein levels in malignant melanoma tumor samples, focused on in-depth histopathology coupled to proteome characterization. The protein levels and localization were determined for a broad spectrum of diverse, surgically isolated melanoma tumors originating from multiple body locations. More than 15,500 proteoforms were identified by mass spectrometry, from which chromosomal and subcellular localization was annotated within both primary and metastatic melanoma. The data generated by global proteomic experiments covered 72% of the proteins identified in the recently reported high stringency blueprint of the human proteome. This study contributes to the NIH Cancer Moonshot initiative combining detailed histopathological presentation with the molecular characterization for 505 melanoma tumor samples, localized in 26 organs from 232 patients.
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  • Cadenas, J., et al. (författare)
  • Regulation of human oocyte maturation in vivo during the final maturation of follicles
  • 2023
  • Ingår i: Human Reproduction. - : Oxford University Press (OUP). - 0268-1161 .- 1460-2350. ; 38:4, s. 686-700
  • Tidskriftsartikel (refereegranskat)abstract
    • STUDY QUESTION: Which substances and signal transduction pathways are potentially active downstream to the effect of FSH and LH in the regulation of human oocyte maturation in vivo? SUMMARY ANSWER: The regulation of human oocyte maturation appears to be a multifactorial process in which several different signal transduction pathways are active. WHAT IS KNOWN ALREADY: Many studies in animal species have provided insight into the mechanisms that govern the final maturation of oocytes. Currently, these studies have identified several different mechanisms downstream to the effects of FSH and LH. Some of the identified mechanisms include the regulation of cAMP/cGMP levels in oocytes involving C-type natriuretic peptide (CNP), effects of epidermal growth factor (EGF)-related peptides such as amphiregulin (AREG) and/or epiregulin (EREG), effect of TGF-β family members including growth differentiation factor 9 (GDF9) and morphogenetic protein 15 (BMP15), activins/inhibins, follicular fluid meiosis activating sterol (FF-MAS), the growth factor midkine (MDK), and several others. However, to what extent these pathways and mechanisms are active in humans in vivo is unknown. STUDY DESIGN, SIZE, DURATION: This prospective cohort study included 50 women undergoing fertility treatment in a standard antagonist protocol at a university hospital affiliated fertility clinic in 2016-2018. PARTICIPANTS/MATERIALS, SETTING, METHODS: We evaluated the substances and signalling pathways potentially affecting human oocyte maturation in follicular fluid (FF) and granulosa cells (GCs) collected at five time points during the final maturation of follicles. Using ELISA measurement and proteomic profiling of FF and whole genome gene expression in GC, the following substances and their signal transduction pathways were collectively evaluated: CNP, the EGF family, inhibin-A, inhibin-B, activins, FF-MAS, MDK, GDF9, and BMP15. MAIN RESULTS AND THE ROLE OF CHANCE: All the evaluated substances and signal transduction pathways are potentially active in the regulation of human oocyte maturation in vivo except for GDF9/BMP15 signalling. In particular, AREG, inhibins, and MDK were significantly upregulated during the first 12-17 h after initiating the final maturation of follicles and were measured at significantly higher concentrations than previously reported. Additionally, the genes regulating FF-MAS synthesis and metabolism were significantly controlled in favour of accumulation during the first 12-17 h. In contrast, concentrations of CNP were low and did not change during the process of final maturation of follicles, and concentrations of GDF9 and BMP15 were much lower than reported in small antral follicles, suggesting a less pronounced influence from these substances. LARGE SCALE DATA: None. LIMITATIONS, REASONS FOR CAUTION: Although GC and cumulus cells have many similar features, it is a limitation of the current study that information for the corresponding cumulus cells is not available. However, we seldom recovered a cumulus-oocyte complex during the follicle aspiration from 0 to 32 h. WIDER IMPLICATIONS OF THE FINDINGS: Delineating the mechanisms governing the regulation of human oocyte maturation in vivo advances the possibility of developing a platform for IVM that, as for most other mammalian species, results in healthy offspring with good efficacy. Mimicking the intrafollicular conditions during oocyte maturation in vivo in small culture droplets during IVM may enhance oocyte nuclear and cytoplasmic maturation. The primary outlook for such a method is, in the context of fertility preservation, to augment the chances of achieving biological children after a cancer treatment by subjecting oocytes from small antral follicles to IVM. Provided that aspiration of oocytes from small antral follicles in vivo can be developed with good efficacy, IVM may be applied to infertile patients on a larger scale and can provide a cheap alternative to conventional IVF treatment with ovarian stimulation. Successful IVM has the potential to change current established techniques for infertility treatment. STUDY FUNDING/COMPETING INTEREST(S): This research was supported by the University Hospital of Copenhagen, Rigshospitalet, the Independent Research Fund Denmark (grant number 0134-00448), and the Interregional EU-sponsored ReproUnion network. There are no conflicts of interest to be declared.
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  • Collij, L. E., et al. (författare)
  • The amyloid imaging for the prevention of Alzheimer's disease consortium: A European collaboration with global impact
  • 2023
  • Ingår i: Frontiers in Neurology. - : Frontiers Media SA. - 1664-2295. ; 13
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundAmyloid-beta (A beta) accumulation is considered the earliest pathological change in Alzheimer's disease (AD). The Amyloid Imaging to Prevent Alzheimer's Disease (AMYPAD) consortium is a collaborative European framework across European Federation of Pharmaceutical Industries Associations (EFPIA), academic, and 'Small and Medium-sized enterprises' (SME) partners aiming to provide evidence on the clinical utility and cost-effectiveness of Positron Emission Tomography (PET) imaging in diagnostic work-up of AD and to support clinical trial design by developing optimal quantitative methodology in an early AD population. The AMYPAD studiesIn the Diagnostic and Patient Management Study (DPMS), 844 participants from eight centres across three clinical subgroups (245 subjective cognitive decline, 342 mild cognitive impairment, and 258 dementia) were included. The Prognostic and Natural History Study (PNHS) recruited pre-dementia subjects across 11 European parent cohorts (PCs). Approximately 1600 unique subjects with historical and prospective data were collected within this study. PET acquisition with [F-18]flutemetamol or [F-18]florbetaben radiotracers was performed and quantified using the Centiloid (CL) method. ResultsAMYPAD has significantly contributed to the AD field by furthering our understanding of amyloid deposition in the brain and the optimal methodology to measure this process. Main contributions so far include the validation of the dual-time window acquisition protocol to derive the fully quantitative non-displaceable binding potential (BPND), assess the value of this metric in the context of clinical trials, improve PET-sensitivity to emerging A beta burden and utilize its available regional information, establish the quantitative accuracy of the Centiloid method across tracers and support implementation of quantitative amyloid-PET measures in the clinical routine. Future stepsThe AMYPAD consortium has succeeded in recruiting and following a large number of prospective subjects and setting up a collaborative framework to integrate data across European PCs. Efforts are currently ongoing in collaboration with ARIDHIA and ADDI to harmonize, integrate, and curate all available clinical data from the PNHS PCs, which will become openly accessible to the wider scientific community.
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  • Grover, A, et al. (författare)
  • Single-cell RNA sequencing reveals molecular and functional platelet bias of aged haematopoietic stem cells
  • 2016
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7, s. 11075-
  • Tidskriftsartikel (refereegranskat)abstract
    • Aged haematopoietic stem cells (HSCs) generate more myeloid cells and fewer lymphoid cells compared with young HSCs, contributing to decreased adaptive immunity in aged individuals. However, it is not known how intrinsic changes to HSCs and shifts in the balance between biased HSC subsets each contribute to the altered lineage output. Here, by analysing HSC transcriptomes and HSC function at the single-cell level, we identify increased molecular platelet priming and functional platelet bias as the predominant age-dependent change to HSCs, including a significant increase in a previously unrecognized class of HSCs that exclusively produce platelets. Depletion of HSC platelet programming through loss of the FOG-1 transcription factor is accompanied by increased lymphoid output. Therefore, increased platelet bias may contribute to the age-associated decrease in lymphopoiesis.
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  • Luc, Sidinh, et al. (författare)
  • The earliest thymic T cell progenitors sustain B cell and myeloid lineage potential.
  • 2012
  • Ingår i: Nature Immunology. - : Springer Science and Business Media LLC. - 1529-2908 .- 1529-2916. ; 13:4, s. 412-419
  • Tidskriftsartikel (refereegranskat)abstract
    • The stepwise commitment from hematopoietic stem cells in the bone marrow to T lymphocyte-restricted progenitors in the thymus represents a paradigm for understanding the requirement for distinct extrinsic cues during different stages of lineage restriction from multipotent to lineage-restricted progenitors. However, the commitment stage at which progenitors migrate from the bone marrow to the thymus remains unclear. Here we provide functional and molecular evidence at the single-cell level that the earliest progenitors in the neonatal thymus had combined granulocyte-monocyte, T lymphocyte and B lymphocyte lineage potential but not megakaryocyte-erythroid lineage potential. These potentials were identical to those of candidate thymus-seeding progenitors in the bone marrow, which were closely related at the molecular level. Our findings establish the distinct lineage-restriction stage at which the T cell lineage-commitment process transits from the bone marrow to the remote thymus.
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  • Mathie, R. T., et al. (författare)
  • Model validity of randomised placebo-controlled trials of non-individualised homeopathic treatment
  • 2017
  • Ingår i: Homeopathy. - : Georg Thieme Verlag KG. - 1475-4916 .- 1476-4245. ; 106:4, s. 194-202
  • Tidskriftsartikel (refereegranskat)abstract
    • Background The comprehensive systematic review of randomised placebo-controlled trials (RCTs) in homeopathy requires examination of a study's model validity of homeopathic treatment (MVHT) as well as its risk of bias (extent of reliable evidence). Objective To appraise MVHT in those RCTs of non-individualised homeopathy that an associated investigation had judged as ‘not at high risk of bias’. Design Systematic review. Methods An assessment of MVHT was ascribed to each of 26 eligible RCTs. Another 49 RCTs were ineligible due to their high risk of bias. Main outcome measures MVHT and the prior risk of bias rating per trial were merged to obtain a single overall quality designation (‘high’, ‘moderate’, ‘low’), based on the GRADE principle of downgrading. Results The trials were rated as ‘acceptable MVHT’ (N = 9), ‘uncertain MVHT’ (N = 10) and ‘inadequate MVHT’ (N = 7); and, previously, as ‘reliable evidence’ (N = 3) and ‘non-reliable evidence’ (N = 23). The 26 trials were designated overall as: ‘high quality’ (N = 1); ‘moderate quality’ (N = 18); ‘low quality’ (N = 7). Conclusion Of the 26 RCTs of non-individualised homeopathy that were judged ‘not at high risk of bias’, nine have been rated ‘acceptable MVHT’. One of those nine studies was designated ‘high quality’ overall (‘acceptable MVHT’ and ‘reliable evidence’), and is thus currently the only reported RCT that represents best therapeutic practice as well as unbiased evidence in non-individualised homeopathy. As well as minimising risk of bias, new RCTs in this area must aim to maximise MVHT and clarity of reporting. 
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  • Mestre, Humberto, et al. (författare)
  • Aquaporin-4-dependent glymphatic solute transport in the rodent brain
  • 2018
  • Ingår i: eLife. - 2050-084X. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • The glymphatic system is a brain-wide clearance pathway; its impairment contributes to the accumulation of amyloid-β. Influx of cerebrospinal fluid (CSF) depends upon the expression and perivascular localization of the astroglial water channel aquaporin-4 (AQP4). Prompted by a recent failure to find an effect of Aqp4 knock-out (KO) on CSF and interstitial fluid (ISF) tracer transport, five groups re-examined the importance of AQP4 in glymphatic transport. We concur that CSF influx is higher in wild-type mice than in four different Aqp4 KO lines and in one line that lacks perivascular AQP4 (Snta1 KO). Meta-analysis of all studies demonstrated a significant decrease in tracer transport in KO mice and rats compared to controls. Meta-regression indicated that anesthesia, age, and tracer delivery explain the opposing results. We also report that intrastriatal injections suppress glymphatic function. This validates the role of AQP4 and shows that glymphatic studies must avoid the use of invasive procedures.
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  • Murillo, Jimmy Rodriguez, et al. (författare)
  • Mass spectrometry evaluation of a neuroblastoma SH-SY5Y cell culture protocol
  • 2018
  • Ingår i: Analytical Biochemistry. - : Elsevier BV. - 0003-2697. ; 559, s. 51-54
  • Tidskriftsartikel (refereegranskat)abstract
    • Cell line-based proteomics studies are susceptible to intrinsic biological variation that contributes to increasing false positive claims; most of the methods that follow these changes offer a limited understanding of the biological system. We applied a quantitative proteomic strategy (iTRAQ) to detect intrinsic protein variation across SH-SY5Y cell culture replicates. More than 95% of the quantified proteins presented a coefficient of variation (CV) < 20% between biological replicates and the variable proteins, which included cytoskeleton, cytoplasmic and housekeeping proteins, are widely reported in proteomic studies. We recommend this approach as an additional quality control before starting any proteomic experiment.
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  • Pla-García, J., et al. (författare)
  • Preliminary Interpretation of the Meteorological Environment Through Mars Science Laboratory Rover Environmental Monitoring Station Observations and Mesoscale Modeling
  • 2014
  • Konferensbidrag (refereegranskat)abstract
    • In this study the Mars Regional AtmosphericModeling System (MRAMS) has been applied to theGale Crater region, the landing site of the Mars ScienceLaboratory (MSL) Rover Curiosity. The landingsite is at one of the lowest elevations in Gale,between the crater rim and the ~4 km high centralmound known as Mt. Sharp. As Curiosity headstoward its long term target of Mt. Sharp, the meteorologicalconditions are expected to change due to theincreasing influence of topographically-inducedthermal circulations that have been predicted by numerousprevious studies [1, 2, 3, 4]. The types ofperturbations of pressure, air and ground temperatureand wind measured by the Rover EnvironmentalMonitoring Station (REMS) [5] have never beenobserved at other locations and these data provide agreat opportunity to test the models at the most meteorologicalinteresting area measured to date. Weprovide a comparison of MRAMS predictions (pressure,air temperature, winds and ground temperature)to the REMS data available at the location of theRover for sols 21-25 (when first regular REMSmeasurements were obtained, Ls=163), sols 51-55(Ls=180), sol 215 (Ls=270) and sols 348-352 (Ls=0),in order to provide a baseline of model performance.
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  • Promerová, Marta, et al. (författare)
  • Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene
  • 2014
  • Ingår i: Animal Genetics. - : Wiley. - 0268-9146 .- 1365-2052. ; 45:2, s. 274-282
  • Tidskriftsartikel (refereegranskat)abstract
    • For centuries, domestic horses have represented an important means of transport and served as working and companion animals. Although their role in transportation is less important today, many horse breeds are still subject to intense selection based on their pattern of locomotion. A striking example of such a selected trait is the ability of a horse to perform additional gaits other than the common walk, trot and gallop. Those could be four-beat ambling gaits, which are particularly smooth and comfortable for the rider, or pace, used mainly in racing. Gaited horse breeds occur around the globe, suggesting that gaitedness is an old trait, selected for in many breeds. A recent study discovered that a nonsense mutation in DMRT3 has a major impact on gaitedness in horses and is present at a high frequency in gaited breeds and in horses bred for harness racing. Here, we report a study of the worldwide distribution of this mutation. We genotyped 4396 horses representing 141 horse breeds for the DMRT3 stop mutation. More than half (2749) of these horses also were genotyped for a SNP situated 32kb upstream of the DMRT3 nonsense mutation because these two SNPs are in very strong linkage disequilibrium. We show that the DMRT3 mutation is present in 68 of the 141 genotyped horse breeds at a frequency ranging from 1% to 100%. We also show that the mutation is not limited to a geographical area, but is found worldwide. The breeds with a high frequency of the stop mutation (>50%) are either classified as gaited or bred for harness racing.
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  • Sanchez, Aniel, et al. (författare)
  • Novel functional proteins coded by the human genome discovered in metastases of melanoma patients
  • 2020
  • Ingår i: Cell Biology and Toxicology. - : Springer Science and Business Media LLC. - 0742-2091 .- 1573-6822. ; 36:3, s. 261-272
  • Tidskriftsartikel (refereegranskat)abstract
    • In the advanced stages, malignant melanoma (MM) has a very poor prognosis. Due to tremendous efforts in cancer research over the last 10 years, and the introduction of novel therapies such as targeted therapies and immunomodulators, the rather dark horizon of the median survival has dramatically changed from under 1 year to several years. With the advent of proteomics, deep-mining studies can reach low-abundant expression levels. The complexity of the proteome, however, still surpasses the dynamic range capabilities of current analytical techniques. Consequently, many predicted protein products with potential biological functions have not yet been verified in experimental proteomic data. This category of ‘missing proteins’ (MP) is comprised of all proteins that have been predicted but are currently unverified. As part of the initiative launched in 2016 in the USA, the European Cancer Moonshot Center has performed numerous deep proteomics analyses on samples from MM patients. In this study, nine MPs were clearly identified by mass spectrometry in MM metastases. Some MPs significantly correlated with proteins that possess identical PFAM structural domains; and other MPs were significantly associated with cancer-related proteins. This is the first study to our knowledge, where unknown and novel proteins have been annotated in metastatic melanoma tumour tissue.
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