41 research outputs found

    Competing Phases in Iron-Based Superconductors Studied by High-Resolution Thermal-Expansion and Shear-Modulus Measurements

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    Die thermodynamischen Phasen von eisenbasierten Supraleitern, hauptsächlich von K-substituiertem BaFe2As2 und von FeSe, wurden mittels hochaufgelöster Messungen der thermischen Ausdehnung und des elastischen Schermoduls untersucht. Für Letzteres wurde eine neue Messmethode entwickelt. Insbesondere wird der Zusammenhang von Magnetismus und strukturellem Phasenübergang betrachtet

    Fires and forests: A reconstruction of Holocene fire-vegetation relationships in Central Yakutia, Siberia

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    The year 2021 set new records for wildfire extent in the Republic of Sakha (Yakutia) in eastern Siberia, Russia. Wildfire seasons in this unique region, characterized by its deciduous boreal forest and permafrost landforms, are becoming more intense. Some fires are threatening local communities, while their smoke covers vast stretches of land every summer, posing health risks to people even in the distance. At the same time, the larch trees of the eastern Siberian boreal forest stabilize the permafrost soils below as guardians of a continental-scale storage of terrestrial carbon. It is still largely unknown how the current trend of wildfire intensification will develop in the future, and how it will modify the structure of the boreal forests within the next decades to centuries. However, even though needed for a well-founded evaluation of long-term impacts of changing fire regimes, data on past trends of wildfire activity still remains scarce in eastern Siberia. Here, we present a new reconstruction of boreal fire and vegetation dynamics, spanning the last ca. 10.8 ka. Continuously analyzed macroscopic charcoal particles and a REVEALS-transformed pollen record from a sediment core from Lake Satagay (N 63.078, E 117.998) give insight into long-term trends and relationships between changes in fire regime and vegetation composition and coverage. The data indicates that modern larch-dominated forests co-exist with a lower severity fire regime, whereas early Holocene open larch-birch woodlands enabled increased charcoal accumulation and thus supported a higher severity fire regime. Considering the expected increase in tree mortality caused by wildfires and insect damage, likely to thin out currently denser tree stands, this fire-vegetation relationship suggests a potential upcoming positive feedback on intensifying fire regimes

    Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip ± Cleft Palate and Cleft Palate Only.

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    Abstract Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signalswithin this high-density datasetare enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue. This enrichment is also detectable in hNCC regions primed for later activity. Using GCTA analyses, we suggest that 30% of the estimated variance in risk for nsCL/P in the European population can be attributed to common variants, with 25.5% contributed to by the 24 risk loci known to date. For each of these, we identify credible SNPs using a Bayesian refinementapproach, with two loci harbouring only one probable causal variant. Finally, we demonstrate that there is no polygenic component of nsCL/P detectable that is shared with nonsyndromic cleft palate only (nsCPO). Our data suggest that, while common variants are strongly contributing to risk for nsCL/P, they do not seem to be involved in nsCPO which might be more often caused by rare deleterious variants. Our study generates novel insights into both nsCL/P and nsCPO etiology and provides a systematic framework for research into craniofacial development and malformation

    Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

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    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions.Clefts of the lip and palate are common birth defects, and require long-term multidisciplinary management. Their etiology involves genetic factors and environmental influences and/or a combination of both, however, these interactions are poorly defined. Moreover, although clefts of the lip may or may not involve the palate, the determinants predisposing to specific subphenotypes are largely unknown. Here we demonstrate that variations in the non-coding region near the GREM1 gene show a highly significant association with a particular phenotype in which cleft lip and cleft palate co-occ

    Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

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    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions

    Author Correction:Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

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    Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions of the article

    Nachhaltige Mode

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    Entstanden ist unsere Sendung über nachhaltige Mode im Herbst 2021 im Rahmen eines Hörfunk-Workshops an der Hochschule für angewandte Wissenschaften (HAW) in Hamburg. Der Workshop findet in jedem Jahr in Kooperation mit dem Tübinger Campusfunk Radio Micro-Europa unter der Leitung von Ulrich Hägele statt. 01 Organic Cotton, verantwortungsvoll produziert, recyclingfähig? All diese Begriffe wollen uns zeigen: Das ist nachhaltige Mode. Aber woher wissen wir, ob das auch wirklich stimmt? Tristan Jorde, Umweltbeauftragter bei der Verbraucherzentrale Hamburg erklärt, wieso wir bei Nachhaltigkeit genau hinsehen müssen und was Greenwashing bedeutet. Wir sprechen darüber, welche Tipps es für uns Endverbraucher*innen gibt. Von Lilly Brosowsky. 02 Der Schrank ist voll, aber nichts zum Anziehen drin? Lisa und Lena von Everless haben das Problem nicht. Die beiden haben eine Capsule Wardrobe: ein Ansatz, modebewusst weniger Kleidung zu konsumieren. Was hat es mit dem minimalistischen Kleiderschrank auf sich? Und können alle dieses Prinzip umsetzen? Marina Schünemann berichtet. 03 Egal ob angesagt, extravagant, sportiv oder vintage: Das Angebot an Kleidung in Secondhand-Ketten ist riesig. Flohmarkt-Fans sind darauf aus, gebrauchter Kleidung ein neues Leben zu geben– #Nachhaltigkeit und so. Aber ist Secondhand überhaupt so nachhaltig wie angenommen? Ist Secondhand-Mode wirklich die Lösung für umweltbewusstes Shopping? Welche Kleidungsstücke landen denn wirklich in Secondhand-Läden? Diese Fragen versucht Lukas Barth zu beantworten. 04 Festival, aber umweltbewusst? Bei Festivals bleibt oft viel Müll zurück, das findet die Designerin Katrin Rieber echt uncool. Aus zurückgelassenen Festival-Zelten macht sie deshalb recycelte Klamotten und haucht dem Müll ein neues Leben ein. Wie das funktioniert und wie ihre Mode ankommt, hat sich Katharina Böhmer angeschaut. 05 Genau hinsehen bei nachhaltig produzierter Mode? Secondhand-Läden abchecken, recycelte Kleidung oder doch eine Capsule Wardrobe? Es gibt viele Wege zu einem umweltbewussten Kleiderschrank. Nicht leicht den richtigen für sich zu finden. Chantal Seiter fasst für uns zusammen. 06 Konsument*innen können mit ihren Kaufentscheidungen viel beeinflussen. Elisabeth Birkner kritisiert jedoch in ihrem Kommentar, dass es zusätzlich mehr politische Lösungen geben muss. Wie beispielsweise das Lieferkettengesetz, das im Sommer 2021 verabschiedet wurde. Elisabeth Birkner berichtet

    Epidemiological investigation of a tularaemia outbreak after a hare hunt in Bavaria, Germany, 2018

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    In November 2018, a tularaemia outbreak occurred in Bavaria, Germany, among participants of a hare hunt and butchery employees handling the hares. We con-ducted an epidemiological outbreak investigation, including a retrospective cohort study among hunting participants, to identify likely transmission routes and activi-ties associated with infection. Twelve of 41 participants were antibody- positive for Francisella (F.) tularensis (attack rate: 29%). Cases reported influenza- like symptoms (n= 11), lymphadenopathy (n= 1) and conjunctivitis (n= 1). Infection only occurred in those hunting participants present while hares were processed, while risk of infec-tion was highest when directly involved (RR = 10.0; 95%CI: 2.6–392). F. tularensiswas isolated from 1/4 hares. Only two individuals reported using some of the rec-ommended personal protective equipment (PPE). Occurrence of mainly non-specific symptoms, likely due to early treatment, was not indicative of a specific transmis-sion route. Transmissions via direct (skin/mucosa) contact and by inhalation of con-taminated aerosols seem plausible. Promoting and increasing appropriate use of PPE among people processing hares is crucial to prevent future outbreaks.Peer Reviewe

    Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts

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    Parent-of-origin (PofO) effects, such as imprinting are a phenomenon where the effect of variants depends on parental origin. Conventional association studies assume that phenotypic effects are independent of parental origin, and are thus severely underpowered to detect such non-Mendelian effects. Risk of orofacial clefts is influenced by genetic and environmental effects, the latter including maternal-specific factors such as perinatal smoking and folate intake. To identify variants showing PofO effects in orofacial clefts we have used a modification of the family-based transmission disequilibrium test to screen for biased transmission from mothers and fathers to affected offspring, biased ratios of maternal versus paternal transmission, and biased frequencies of reciprocal classes of heterozygotes among offspring. We applied these methods to analyze published genomewide single-nucleotide polymorphism (SNP) data from B2500 trios mainly of European and Asian ethnicity with non-syndromic orofacial clefts, followed by analysis of 64 candidate SNPs in a replication cohort of B1200 trios of European origin. In our combined analysis, we did not identify any SNPs achieving conventional genom
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