100 research outputs found
Polygenic profile of individual differences in language skills in a Dutch cohort (Language in Interaction BQ4)
No full textThe Individual Differences in Language Skills (IDLaS-NL) test battery was developed from 2017 to 2022 by a research team at the Max Planck Institute for Psycholinguistics (MPI-PL) in Nijmegen, the Netherlands. Funded by the Language in Interaction Consortium (https://www.languageininteraction.nl/) as part of its Big Question 4 (BQ 4) project, the battery was designed to help understand how interindividual variability in a range of processing and cognitive skills contributes to individual differences in language, across the full spectrum of abilities in young adults in the general population (Hintz et al, 2020; Hintz et al., 2023). As well as assessing production and comprehension at word and sentence levels, the battery includes measures capturing linguistic experience and domain-general cognitive skills, employing multiple tests for tapping into each aspect. At time of writing, a total of 748 Dutch participants (18-30 years old) had completed 35 tests of the IDLaS-NL test battery (Hintz et al, in prep). This provides a new and unique cohort with participants that have been deeply-phenotyped on a plethora of aspects related to language.
The use of spoken and written language is a capacity that is unique to humans, and the relevant skills are essential in our daily lives in modern society. Family and twin studies have revealed substantial genetic components contributing to individual variation in reading- and language-related traits, as well as to susceptibility to associated disorders (Deriziotis and Fisher, 2017). Recent large-scale genome-wide association studies (GWAS) led by MPI-PL researchers have identified common genetic variation contributing to individual differences in reading- and language-related traits (Eising et al, 2022, N of up to 34,000 people) and self-reported dyslexia diagnosis (Doust et al, 2022, 51,800 cases, ~1.1 million controls). While the sample sizes in the Eising and Doust studies were large, as is necessary for well powered GWAS efforts, they were limited by a shallow depth of phenotypic characterization, and mainly focused on traits connected to reading and spelling. By contrast, the newly collected IDLaS-NL cohort has a more modest sample size but is unique in being phenotypically rich, covering different aspects of language production and comprehension at multiple levels, and including features that could never be investigated in prior GWAS efforts (which were based on availability of phenotypic and genotypic data from pre-existing cohorts). For a cohort of this kind, with lower sample size (up to 1000 participants) coupled to deep phenotyping, we can use methods based on polygenic scoring (i.e, utilizing aggregate signals from common DNA variants across the genome) to validate prior findings from the Eising and Doust GWAS efforts, and to examine genetically mediated relationships with new traits that were not included in those studies
Fastq files of TEX project - part 7
No full textFastq files of whole genome sequencing data of TEX project
De novo protein-coding gene variants in developmental stuttering
No full textAbstract Developmental stuttering is a common childhood condition characterized by disfluencies in speech, such as blocks, prolongations, and repetitions. While most children who stutter do so only transiently, there are some for whom stuttering persists into adulthood. Rare-variant screens in families including multiple relatives with persistent stuttering have so far identified six genes carrying putative pathogenic variants hypothesized to act in a monogenic fashion. Here, we applied a complementary study design, searching instead for de novo variants in exomes of 85 independent parent-child trios, each with a child with transient or persistent stuttering. Exome sequencing analysis yielded a pathogenic variant in SPTBN1 as well as likely pathogenic variants in PRPF8 , TRIO , and ZBTB7A - four genes previously implicated in neurodevelopmental disorders with or without speech problems. Our results also highlighted two further genes of interest for stuttering: FLT3 and IREB2 . We used extensive bioinformatic approaches to investigate overlaps in brain-related processes among the twelve genes associated with monogenic forms of stuttering. Analyses of gene-expression datasets of the developing and adult human brain, and data from a genome-wide association study of human brain structural connectivity, did not find links of monogenic stuttering to specific brain processes. Overall, our results provide the first direct genetic link between stuttering and other neurodevelopmental disorders, including speech delay and aphasia. In addition, we systematically demonstrate a dissimilarity in biological pathways associated with the genes thus far implicated in monogenic forms of stuttering, indicating heterogeneity in the etiological basis of this condition.Max-Planck-Gesellschaft https://doi.org/10.13039/501100004189Nederlandse Organisatie voor Wetenschappelijk Onderzoek https://doi.org/10.13039/501100003246Leibniz Wissenschaftscampus primate cognitio
Fastq files of TEX project - part 3
No full textFastq files of whole genome sequencing data of TEX projec
Fastq files of TEX project - part 6
No full textFastq files of whole genome sequencing data of TEX projec
Fastq files of TEX project - part 4
No full textFastq files of whole genome sequencing data of TEX projec
"Pension Systems in the EU: Variable Patterns of Influence in Italy, the Netherlands and Belgium"
No full textThe paper investigates how European welfare states respond to reform pressures arising from European integration. We examine the impact of two variables that mediate the impact of reform pressures caused by EU membership: the extent of public pension provision and the number of veto points in national political institutions. Our preliminary expectation is that, all else equal, member states with few veto points and a relatively small public pension sector are the most likely cases of policy change in response to Europeanization, whereas member states with a high number of veto points and extensive public pension commitments are the least likely candidates for policy change
The access of business interests to European Union institutions: notes towards a theory
No full textThe unequal access of interest organizations to the EU institutions is often associated with biased European politics. Nonetheless, systematic accounts of interest group access are rare. Rooted in the organizational theory of resource dependencies and drawing on a survey of 800 EU and national business associations, the article presents a broad conception of European political exchange to explain the contact patterns. Ordinal regressions indicate that three dimensions shape these patterns – organizational characteristics, sectoral-economic features, and national modes of interest intermediation. Nonetheless, EU interest intermediation displays only very few general traits – these are the division of labor among EU and national associations, the economic clout, the financial resources and the expertise of interest groups as well as their political mobilization when they face of EU regulation. Else, the interaction patterns vary along the EU institutions and their levels of decision-making underscoring the importance of the institutional opportunity structure.interest representation; institutions; interest intermediation; organization theory
Do they value the mall: Determining insider values on a changed 20th century shopping mall.
No full textThe modern malls in the Randstad are pressured into redevelopment, as their retail property value is decreasing relative to other more profitable functions (Centraal Bureau voor de Statistiek, 2019).According to Galema & Van Hoogstraten (2005), the shopping centres built in 1940-1965 according to contemporary and recent literature are often hardly recognisable, due to the speed at which commercial attitudes change. They further state that retail is forced to keep up with the times, and retail buildings and centres change regularly. Concluding that the building type evades traditional monument conservation.This is despite forming an essential part of neighbourhoods for their socioeconomic value (Robertson & Fennell, 2007; Kooijman, 1999; Feinberg et al., 1989).Therefore, the research focuses on determining who the insider stakeholders are and how they value the spatial attributes of a changed 20th-century shopping mall. One of the key strategies for the survival of a 20th-century mall is to reinvent its meaning in contemporary society.The design focused on how to incorporate these values combined with contemporary design theories such as Gehl, and Sim, among others.Architecture, Urbanism and Building Sciences | Heritage & Architectur
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