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- 2019
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Tidskriftsartikel (refereegranskat)
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- Fisher, Rosie A., et al.
(författare)
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Vegetation demographics in Earth System Models : A review of progress and priorities
- 2018
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Ingår i: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 24:1, s. 35-54
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Forskningsöversikt (refereegranskat)abstract
- Numerous current efforts seek to improve the representation of ecosystem ecology and vegetation demographic processes within Earth System Models (ESMs). These developments are widely viewed as an important step in developing greater realism in predictions of future ecosystem states and fluxes. Increased realism, however, leads to increased model complexity, with new features raising a suite of ecological questions that require empirical constraints. Here, we review the developments that permit the representation of plant demographics in ESMs, and identify issues raised by these developments that highlight important gaps in ecological understanding. These issues inevitably translate into uncertainty in model projections but also allow models to be applied to new processes and questions concerning the dynamics of real-world ecosystems. We argue that stronger and more innovative connections to data, across the range of scales considered, are required to address these gaps in understanding. The development of first-generation land surface models as a unifying framework for ecophysiological understanding stimulated much research into plant physiological traits and gas exchange. Constraining predictions at ecologically relevant spatial and temporal scales will require a similar investment of effort and intensified inter-disciplinary communication.
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- Johnston, Jennifer J., et al.
(författare)
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Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
- 2010
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 31:10, s. 1142-1154
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Tidskriftsartikel (refereegranskat)abstract
- A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
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- Pivodic, Aldina, 1978, et al.
(författare)
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Development and validation of a new clinical decision support tool to optimize screening for retinopathy of prematurity
- 2022
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Ingår i: British Journal of Ophthalmology. - : BMJ Publishing Group Ltd. - 0007-1161 .- 1468-2079. ; 106:11, s. 1573-1580
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIMS: Prematurely born infants undergo costly, stressful eye examinations to uncover the small fraction with retinopathy of prematurity (ROP) that needs treatment to prevent blindness. The aim was to develop a prediction tool (DIGIROP-Screen) with 100% sensitivity and high specificity to safely reduce screening of those infants not needing treatment. DIGIROP-Screen was compared with four other ROP models based on longitudinal weights.METHODS: Data, including infants born at 24-30 weeks of gestational age (GA), for DIGIROP-Screen development (DevGroup, N=6991) originate from the Swedish National Registry for ROP. Three international cohorts comprised the external validation groups (ValGroups, N=1241). Multivariable logistic regressions, over postnatal ages (PNAs) 6-14 weeks, were validated. Predictors were birth characteristics, status and age at first diagnosed ROP and essential interactions.RESULTS: ROP treatment was required in 287 (4.1%)/6991 infants in DevGroup and 49 (3.9%)/1241 in ValGroups. To allow 100% sensitivity in DevGroup, specificity at birth was 53.1% and cumulatively 60.5% at PNA 8 weeks. Applying the same cut-offs in ValGroups, specificities were similar (46.3% and 53.5%). One infant with severe malformations in ValGroups was incorrectly classified as not needing screening. For all other infants, at PNA 6-14 weeks, sensitivity was 100%. In other published models, sensitivity ranged from 88.5% to 100% and specificity ranged from 9.6% to 45.2%.CONCLUSIONS: DIGIROP-Screen, a clinical decision support tool using readily available birth and ROP screening data for infants born GA 24-30 weeks, in the European and North American populations tested can safely identify infants not needing ROP screening. DIGIROP-Screen had equal or higher sensitivity and specificity compared with other models. DIGIROP-Screen should be tested in any new cohort for validation and if not validated it can be modified using the same statistical approaches applied to a specific clinical setting.
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- Soranzo, Nicole, et al.
(författare)
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A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:11, s. 38-1182
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Tidskriftsartikel (refereegranskat)abstract
- The number and volume of cells in the blood affect a wide range of disorders including cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here the genetic variation in eight clinically relevant hematological parameters, including hemoglobin levels, red and white blood cell counts and platelet counts and volume. We describe common variants within 22 genetic loci reproducibly associated with these hematological parameters in 13,943 samples from six European population-based studies, including 6 associated with red blood cell parameters, 15 associated with platelet parameters and 1 associated with total white blood cell count. We further identified a long-range haplotype at 12q24 associated with coronary artery disease and myocardial infarction in 9,479 cases and 10,527 controls. We show that this haplotype demonstrates extensive disease pleiotropy, as it contains known risk loci for type 1 diabetes, hypertension and celiac disease and has been spread by a selective sweep specific to European and geographically nearby populations.
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- Whitley, Rhys, et al.
(författare)
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A model inter-comparison study to examine limiting factors in modelling Australian tropical savannas
- 2016
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 13:11, s. 3245-3265
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Tidskriftsartikel (refereegranskat)abstract
- The savanna ecosystem is one of the most dominant and complex terrestrial biomes, deriving from a distinct vegetative surface comprised of co-dominant tree and grass populations. While these two vegetation types co-exist functionally, demographically they are not static but are dynamically changing in response to environmental forces such as annual fire events and rainfall variability. Modelling savanna environments with the current generation of terrestrial biosphere models (TBMs) has presented many problems, particularly describing fire frequency and intensity, phenology, leaf biochemistry of C3 and C4 photosynthesis vegetation, and root-water uptake. In order to better understand why TBMs perform so poorly in savannas, we conducted a model inter-comparison of six TBMs and assessed their performance at simulating latent energy (LE) and gross primary productivity (GPP) for five savanna sites along a rainfall gradient in northern Australia. Performance in predicting LE and GPP was measured using an empirical benchmarking system, which ranks models by their ability to utilise meteorological driving information to predict the fluxes. On average, the TBMs performed as well as a multi-linear regression of the fluxes against solar radiation, temperature and vapour pressure deficit but were outperformed by a more complicated nonlinear response model that also included the leaf area index (LAI). This identified that the TBMs are not fully utilising their input information effectively in determining savanna LE and GPP and highlights that savanna dynamics cannot be calibrated into models and that there are problems in underlying model processes. We identified key weaknesses in a model's ability to simulate savanna fluxes and their seasonal variation, related to the representation of vegetation by the models and root-water uptake. We underline these weaknesses in terms of three critical areas for development. First, prescribed tree-rooting depths must be deep enough, enabling the extraction of deep soil-water stores to maintain photosynthesis and transpiration during the dry season. Second, models must treat grasses as a co-dominant interface for water and carbon exchange rather than a secondary one to trees. Third, models need a dynamic representation of LAI that encompasses the dynamic phenology of savanna vegetation and its response to rainfall interannual variability. We believe that this study is the first to assess how well TBMs simulate savanna ecosystems and that these results will be used to improve the representation of savannas ecosystems in future global climate model studies.
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- Whitley, Rhys, et al.
(författare)
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Challenges and opportunities in land surface modelling of savanna ecosystems
- 2017
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 14:20, s. 4711-4732
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Tidskriftsartikel (refereegranskat)abstract
- The savanna complex is a highly diverse global biome that occurs within the seasonally dry tropical to sub-tropical equatorial latitudes and are structurally and functionally distinct from grasslands and forests. Savannas are open-canopy environments that encompass a broad demographic continuum, often characterised by a changing dominance between C3-tree and C4-grass vegetation, where frequent environmental disturbances such as fire modulates the balance between ephemeral and perennial life forms. Climate change is projected to result in significant changes to the savanna floristic structure, with increases to woody biomass expected through CO2 fertilisation in mesic savannas and increased tree mortality expected through increased rainfall interannual variability in xeric savannas. The complex interaction between vegetation and climate that occurs in savannas has traditionally challenged terrestrial biosphere models (TBMs), which aim to simulate the interaction between the atmosphere and the land surface to predict responses of vegetation to changing in environmental forcing. In this review, we examine whether TBMs are able to adequately represent savanna fluxes and what implications potential deficiencies may have for climate change projection scenarios that rely on these models. We start by highlighting the defining characteristic traits and behaviours of savannas, how these differ across continents and how this information is (or is not) represented in the structural framework of many TBMs. We highlight three dynamic processes that we believe directly affect the water use and productivity of the savanna system: phenology, root-water access and fire dynamics. Following this, we discuss how these processes are represented in many current-generation TBMs and whether they are suitable for simulating savanna fluxes.Finally, we give an overview of how eddy-covariance observations in combination with other data sources can be used in model benchmarking and intercomparison frameworks to diagnose the performance of TBMs in this environment and formulate road maps for future development. Our investigation reveals that many TBMs systematically misrepresent phenology, the effects of fire and root-water access (if they are considered at all) and that these should be critical areas for future development. Furthermore, such processes must not be static (i.e. prescribed behaviour) but be capable of responding to the changing environmental conditions in order to emulate the dynamic behaviour of savannas. Without such developments, however, TBMs will have limited predictive capability in making the critical projections needed to understand how savannas will respond to future global change.
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