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Weissbach A.,University of Lubeck | Siegesmund K.,University of Lubeck | Bruggemann N.,University of Lubeck | Schmidt A.,University of Lubeck | And 13 more authors.
Movement Disorders | Year: 2012

Background:: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Methods:: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing. Results:: We identified three novel missense and one splice site variant in the PCDHA3, WWC2, ATRN, and FAT2 genes that segregated with RLS in the family. All four exons of the PCDHA3 gene, the most plausible candidate, were sequenced in 64 unrelated RLS cases and 250 controls. This revealed three additional rare missense variants (frequency <1%) of unknown pathogenicity in 2 patients and 1 control. Conclusions:: We present the first next-generation sequencing study on RLS and suggest PCDHA3 as a candidate gene for RLS. © 2012 Movement Disorder Society.

Rudisser J.,University of Innsbruck | Tasser E.,European Academy Bozen Bolzano | Peham T.,University of Innsbruck | Meyer E.,University of Innsbruck | And 2 more authors.
Ecological Indicators | Year: 2015

We conducted a comprehensive assessment of soil quality in South Tyrol, Italy by combining spatial land use and land cover data with field surveys studying soil microarthropods. The biological soil-quality index (BSQ) proposed by Parisi et al. (2005) is based on the assumption that higher soil quality is associated with the occurrence of more microarthropod groups that are well-adapted to soil habitats. We used the BSQ concept in the context of a state-wide sustainability assessment on a municipality level. Many soil animals fulfil key ecosystem functions that are the basis for significant and broadly used ecosystem services. These functions and services are essential for any sustainable agriculture type. To determine if and how BSQ values are influenced by land use characteristics, we analysed field data from 243 sampling sites comprising eleven different land cover or land use types. An ordinary least square regression (OLS) was used to assess the influence of land use types, altitude, aspect, slope and geology as independent variables on BSQ values (R2 = 0.60; p < 0.001). In addition to high variability in soil microarthropod communities, there were significant differences in BSQ values among most land use types. BSQ values were highest in forest ecosystems and lowest in arable fields. The parameters of the linear regression model were used together with spatial comprehensive GIS data to predict BSQ values spatially. The predicted values ranged from 0 to 198 and were used to calculate area-weighted mean BSQ values for all municipalities in South Tyrol. Our results show that the BSQ reacts sensitively to land use and hence can serve as an important surrogate indicator for sustainable land use practices. © 2015 Elsevier Ltd. All rights reserved.

Rudisser J.,University of Innsbruck | Tasser E.,European Academy Bozen Bolzano | Tappeiner U.,University of Innsbruck | Tappeiner U.,European Academy Bozen Bolzano
Ecological Indicators | Year: 2012

The ongoing worldwide biodiversity crisis comes along with a growing demand for feasible environmental indicators to measure, evaluate and communicate anthropogenic influence on biodiversity. Those indicators can be useful tools for national and regional management and support decision making processes. We propose degree of naturalness (N d), distance to natural habitat (D n) and the composite index distance to nature (D 2N) as a highly comprehensible environmental indicator set that can be used as surrogate for land use related anthropogenic influence on biodiversity. A high resolution naturalness map for Austria based on the best nationwide available land use data was produced and used to test and demonstrate the applicability of the indicator set. Spatially inclusive and comprehensive indicator maps were calculated for the entire country (83,872 km 2). Exemplary indicator values for all 2359 municipalities and six altitudinal zones were calculated and evaluated. Indicator maps of Austria clearly delimitate regions with elevated anthropogenic pressure on biodiversity due to land use characteristics. A sensitivity analysis conducted to evaluate the effect of land use data with different spatial and thematic resolution on the indicators showed that D n reacts sensitive to spatially more detailed information about natural and near natural habitats. By contrast N d and D 2N were robust regarding the spatial and thematic resolution of input data. The proposed indicators do not measure biodiversity or a part of it directly, but the degree of habitat changes caused by anthropogenic land use, therefore they can be used for analysis over wide geographic ranges including different bio-geographic or climatic zones, and different spatial scales. © 2011 Elsevier Ltd. All rights reserved.

Culy C.,European Academy Bozen Bolzano | Lyding V.,European Academy Bozen Bolzano
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) | Year: 2011

Large text corpora are a main language resource for the human-driven analysis of linguistic phenomena. With the ever increasing amount of data, it is vital to find ways to help people understand the data, and visualization techniques provide one way to do that. Corpus Clouds is a program which provides visualizations of different types of frequency information dynamically derived from a corpus via a standard query system, integrated with a standard KWIC display. We apply established principles from information visualization to provide dynamic, interactive representations of the query results. The selected design principles and alternatives to the implementation will be discussed and a preview on what other types of information connected to corpora can be visualized in similar ways are provided. Corpus Clouds can thus be seen as answer to the call by Collins et al. [1] to design in a principled way new visualization tools for linguistic data. © 2011 Springer-Verlag.

Obojes N.,University of Innsbruck | Obojes N.,European Academy Bozen Bolzano | Bahn M.,University of Innsbruck | Tasser E.,European Academy Bozen Bolzano | And 10 more authors.
Ecohydrology | Year: 2015

Mountain regions are key for humanity's water supply, and their water yield depends on climatic, soil and vegetation effects. Here we explore the effects of vegetation composition and structure on the water balance of high elevation grasslands with different climatic conditions across the Alps. Using a total of 220 deep seepage collectors with intact soil-vegetation monoliths in different types of mountain grasslands in the Austrian, French and Swiss Alps, we solved the water balance equation for evapotranspiration (ET) and related the results to biomass, the abundance of certain plant functional types and structural and functional vegetation properties. While daily mean ET during the growing season was similar at all sites, ET to precipitation ratios were significantly higher and ET to potential ET ratios significantly lower at the drier French sites than at the more humid Swiss and Austrian site. Large variability of ET, seepage and soil moisture within all sites pointed at a high influence of vegetation on the water balance. While ET increased significantly with biomass at all sites, the influence of other vegetation properties was site specific. At the more humid, subalpine Austrian site the effects of vegetation on ET were stronger and more diverse than at the higher elevation Swiss site and the drier French sites, where climatic drivers dominated ET. The potential to influence ET and water yield of mountain areas by manipulating the plant canopy with systematic land management is therefore higher in regions with good growing conditions than in areas with harsh climate. © 2014 John Wiley & Sons, Ltd.

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