79 research outputs found

    Identifying individual approaches to foreign language digital reading and transferring them into didactic implications : A seminar concept in university teacher education

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    Im Rahmen des vorgestellten Seminarkonzepts ermitteln angehende Spanischlehrkräfte die individuellen Bedürfnisse von Schüler*innen, die im zweiten oder dritten Jahr Spanisch als Fremdsprache erlernen. Die Studierenden entwickeln ein differenziertes Lernsetting, das auf der Rezeption und dem Leseverständnis von digitalen Texten basiert. Sie wählen eine Website auf der Grundlage zuvor festgelegter Qualitätskriterien aus, formulieren eine Aufgabe und beobachten die Lernenden bei der Arbeit daran. Dabei werden die Schüler*innen durch einen Beobachtungs- und Analyseprozess mit Laut-Denk-Protokollen angeleitet und sollen so in die Lage versetzt werden, individuelle Bedürfnisse zu erkennen. Auf der Grundlage der Analyse der Lernendenäußerungen reflektieren und überarbeiten die Studierenden die gestellte Aufgabe im Hinblick auf Differenzierungsbedarfe, für die sie Unterrichtsmaterial erstellen.  In the context of the seminar concept presented, pre-service Spanish teachers identify individual needs of pupils in their second or third year of learning Spanish as a foreign language. The students develop a differentiated learning setting based on the reception and reading comprehension of digital texts. They select a website on the basis of previously defined quality criteria, formulate a task and observe the learners while they are working on it. In doing so, the students are guided through an observation and analysis process with thinking-aloud-protocols and should thus be enabled to identify individual needs. Based on the analysis of the pupils’ utterances, the students reflect and revise the task set regarding differentiation needs, for which they create teaching material

    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

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    The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD

    A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis

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    The ERAP1 gene encodes an aminopeptidase involved in antigen processing. A functional polymorphism in the gene (rs30187, Arg528Lys) associates with susceptibility to ankylosying spondylitis (AS), whereas a SNP in the interacting ERAP2 gene increases susceptibility to another inflammatory autoimmune disorder, Crohn's disease (CD). We analysed rs30187 in 572 Italian patients with CD and in 517 subjects suffering from multiple sclerosis (MS); for each cohort, an independent sex- and age-matched control group was genotyped. The frequency of the 528Arg allele was significantly higher in both disease cohorts compared to the respective control population (for CD, OR = 1.20 95%CI: 1.01–1.43, p = 0.036; for RRMS, OR = 1.26; 95%CI: 1.04–1.51, p = 0.01). Meta-analysis with the Wellcome Trust Cases Control Consortium GWAS data confirmed the association with MS (pmeta = 0.005), but not with CD. In AS, the rs30187 variant has a predisposing effect only in an HLA-B27 allelic background. It remains to be evaluated whether interaction between ERAP1 and distinct HLA class I alleles also affects the predisposition to MS, and explains the failure to provide definitive evidence for a role of rs30187 in CD. Results herein support the emerging concept that a subset of master-regulatory genes underlay the pathogenesis of autoimmunity

    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

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    Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease

    Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer

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    Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10-7), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10-7); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10-
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