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Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a cosegregating, heterozygous nonsense mutation (8130G -> A; W2710X) in the filamin c gene ( FLNC) on chromosome 7q32.1. The mutation is the first found in FLNC and is localized in the dimerization domain of filamin c. Functional studies showed that, in the truncated mutant protein, this domain has a disturbed secondary structure that leads to the inability to dimerize properly. As a consequence of this malfunction, the muscle fibers of our patients display massive cytoplasmic aggregates containing filamin c and several Z-disk-associated and sarcolemmal proteins
Collinearity a review of methods to deal with it and a simulation study evaluating their performance
(2013)
Collinearity refers to the non independence of predictor variables, usually in a regression-type analysis. It is a common feature of any descriptive ecological data set and can be a problem for parameter estimation because it inflates the variance of regression parameters and hence potentially leads to the wrong identification of relevant predictors in a statistical model. Collinearity is a severe problem when a model is trained on data from one region or time, and predicted to another with a different or unknown structure of collinearity. To demonstrate the reach of the problem of collinearity in ecology, we show how relationships among predictors differ between biomes, change over spatial scales and through time. Across disciplines, different approaches to addressing collinearity problems have been developed, ranging from clustering of predictors, threshold-based pre-selection, through latent variable methods, to shrinkage and regularisation. Using simulated data with five predictor-response relationships of increasing complexity and eight levels of collinearity we compared ways to address collinearity with standard multiple regression and machine-learning approaches. We assessed the performance of each approach by testing its impact on prediction to new data. In the extreme, we tested whether the methods were able to identify the true underlying relationship in a training dataset with strong collinearity by evaluating its performance on a test dataset without any collinearity. We found that methods specifically designed for collinearity, such as latent variable methods and tree based models, did not outperform the traditional GLM and threshold-based pre-selection. Our results highlight the value of GLM in combination with penalised methods (particularly ridge) and threshold-based pre-selection when omitted variables are considered in the final interpretation. However, all approaches tested yielded degraded predictions under change in collinearity structure and the folk lore'-thresholds of correlation coefficients between predictor variables of |r| >0.7 was an appropriate indicator for when collinearity begins to severely distort model estimation and subsequent prediction. The use of ecological understanding of the system in pre-analysis variable selection and the choice of the least sensitive statistical approaches reduce the problems of collinearity, but cannot ultimately solve them.
We prove the hitherto hypothesized sequential dissociation of Fe(CO)(5) in the gas phase upon photoexcitation at 266 nm via a singlet pathway with time-resolved valence and core-level photoelectron spectroscopy with an x-ray free-electron laser. Valence photoelectron spectra are used to identify free CO molecules and to determine the time constants of stepwise dissociation to Fe(CO)(4) within the temporal resolution of the experiment and further to Fe(CO)(3) within 3 ps. Fe 3p core-level photoelectron spectra directly reflect the singlet spin state of the Fe center in Fe(CO)(5), Fe(CO)(4), and Fe(CO)(3) showing that the dissociation exclusively occurs along a singlet pathway without triplet-state contribution. Our results are important for assessing intra- and intermolecular relaxation processes in the photodissociation dynamics of the prototypical Fe(CO)(5) complex in the gas phase and in solution, and they establish time-resolved core-level photoelectron spectroscopy as a powerful tool for determining the multiplicity of transition metals in photochemical reactions of coordination complexes. Published by AIP Publishing.
Questions: Which are the factors that influence forest and shrubland loss and regeneration and their underlying drivers?
Location: Central Chile, a world biodiversity hotspot.
Methods: Using land-cover data from the years 1975, 1985, 1999 and 2008, we fitted classification trees and multiple logistic regression models to account for the relationship between different trajectories of vegetation change and a range of biophysical and socio-economic factors.
Results: The variables that most consistently showed significant effects on vegetation change across all time-intervals were slope and distance to primary roads. We found that forest and shrubland loss on one side and regeneration on the other often displayed opposite patterns in relation to the different explanatory variables. Deforestation was positively related to distance to primary roads and to distance within forest edges and was favoured by a low insolation and a low slope. In turn, forest regeneration was negatively related to the distance to primary roads and positively to the distance to the nearest forest patch, insolation and slope. Shrubland loss was positively influenced by slope and distance to cities and primary roads and negatively influenced by distance to rivers. Conversely, shrubland regeneration was negatively related to slope, distance to cities and distance to primary roads and positively related to distance from existing forest patches and distance to rivers.
Conclusions: This article reveals how biophysical and socioeconomic factors influence vegetation cover change and the underlying social, political and economical drivers. This assessment provides a basis for management decisions, considering the crucial role of perennial vegetation cover for sustaining biodiversity and ecosystem services.
The Argentine-German Geodetic Observatory (AGGO) is one of the very few sites in the Southern Hemisphere equipped with comprehensive cutting-edge geodetic instrumentation. The employed observation techniques are used for a wide range of geophysical applications. The data set provides gravity time series and selected gravity models together with the hydrometeorological monitoring data of the observatory. These parameters are of great interest to the scientific community, e.g. for achieving accurate realization of terrestrial and celestial reference frames. Moreover, the availability of the hydrometeorological products is beneficial to inhabitants of the region as they allow for monitoring of environmental changes and natural hazards including extreme events. The hydrological data set is composed of time series of groundwater level, modelled and observed soil moisture content, soil temperature, and physical soil properties and aquifer properties. The meteorological time series include air temperature, humidity, pressure, wind speed, solar radiation, precipitation, and derived reference evapotranspiration. These data products are extended by gravity models of hydrological, oceanic, La Plata estuary, and atmospheric effects. The quality of the provided meteorological time series is tested via comparison to the two closest WMO (World Meteorological Organization) sites where data are available only in an inferior temporal resolution. The hydrological series are validated by comparing the respective forward-modelled gravity effects to independent gravity observations reduced up to a signal corresponding to local water storage variation. Most of the time series cover the time span between April 2016 and November 2018 with either no or only few missing data points. The data set is available at https://doi.org/10.588/GFZ.5.4.2018.001 (Mikolaj et al., 2018).
Movement of organisms is one of the key mechanisms shaping biodiversity, e.g. the distribution of genes, individuals and species in space and time. Recent technological and conceptual advances have improved our ability to assess the causes and consequences of individual movement, and led to the emergence of the new field of ‘movement ecology’. Here, we outline how movement ecology can contribute to the broad field of biodiversity research, i.e. the study of processes and patterns of life among and across different scales, from genes to ecosystems, and we propose a conceptual framework linking these hitherto largely separated fields of research. Our framework builds on the concept of movement ecology for individuals, and demonstrates its importance for linking individual organismal movement with biodiversity. First, organismal movements can provide ‘mobile links’ between habitats or ecosystems, thereby connecting resources, genes, and processes among otherwise separate locations. Understanding these mobile links and their impact on biodiversity will be facilitated by movement ecology, because mobile links can be created by different modes of movement (i.e., foraging, dispersal, migration) that relate to different spatiotemporal scales and have differential effects on biodiversity. Second, organismal movements can also mediate coexistence in communities, through ‘equalizing’ and ‘stabilizing’ mechanisms. This novel integrated framework provides a conceptual starting point for a better understanding of biodiversity dynamics in light of individual movement and space-use behavior across spatiotemporal scales. By illustrating this framework with examples, we argue that the integration of movement ecology and biodiversity research will also enhance our ability to conserve diversity at the genetic, species, and ecosystem levels.