443 research outputs found

    Tectonic evolution of the Colorado Basin, offshore Argentina, inferred from seismo-stratigraphy and depositional rates analysis

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    International audienceBased on a dense 2D seismic reflection dataset and information from 8 exploration wells, we reinterpreted the stratigraphic evolution of the Colorado Basin. The basin is located on the continental shelf and slope within 50 to 2250 m of bathymetry. The total sediment fill can be up to 16,000 m. Seismic-to-well log correlations provide a chrono-stratigraphic framework for the interpreted seismic sequences. We show that the Colorado Basin records the development of a Permian pre-rift period, a Triassic/Jurassic to Early Cretaceous rift phase and a Lower Cretaceous to Tertiary drift phase. This passive margin represents the evolution of lithospheric extension from active rifting to the thermal subsidence/drift stage. Several Cretaceous to Cenozoic slumping episodes were identified and related to progradation of the sequences and sediment build-up in the slope, as well as to the development of seaward dipping extensional faults

    MMX - development of a rover locomotion system for Phobos

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    The MMX mission (Martian Moons eXploration) is a robotic sample return mission of the JAXA (Japan Aerospace Exploration Agency), CNES (Centre National d'Etudes Spatiales ) and DLR (German Aerospace Center) for launch in 2024. The mission aims to answer the question on the origin of Phobos and Deimos which will also help to understand the material transport in the earliest period of our solar system and the most important question how was the water brought on Earth. Besides the MMX mothership (JAXA) which is responsible for sampling and sample return to Earth a small rover which is built by CNES and DLR shall land on Phobos for in-situ measurements similar to MASCOT (Mobile Asteroid Surface Scout) on Ryugu. The MMX rover is a four wheel driven autonomous system with a size of 41 cm x 37 cm x 30 cm and a weight of approx. 25 kg. Multiple science instruments and cameras are integrated in the rover body. The rover body is basically a rectangular box, attached at the sides are four legs with one wheel per leg. When the rover is detached from the mothership, the legs are folded together at the side of the rover body. When the rover has landed passively (no parachute, braking rockets) on Phobos, the legs are autonomously controlled to bring the rover in an upright orientation. One Phobos day lasts 7 earth hours, which gives for the total mission time of 3 earth months, the number of about 300 extreme temperature cycles. These cycles and the wide span of surface temperature between day and night are main design drivers for the rover. This paper gives a short overview on the MMX mission, the MMX rover and a detailed view on the development of the MMX rover locomotion subsystem

    Hair follicles are required for optimal growth during lateral skin expansion

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    The hair follicles and the interfollicular epidermis of intact mature skin are maintained by distinct stem cell populations. Upon wounding, however, emigration of hair follicle keratinocytes to the interfollicular epidermis plays a role in acute stages of healing. In addition to this repair function, rapidly cycling cells of the upper hair follicle have been observed transiting to the interfollicular epidermis in neonatal skin. Here we report that an absence of hair follicle development leads to shortening and kinking of the mouse tail. These skeletal defects are reduced by stimulating keratinocyte proliferation, suggesting that they arise from impaired epidermal expansion. We confirm that rapidly cycling cells of the hair follicle emigrate to the interfollicular epidermis of the neonatal tail. These results suggest that an absence of hair follicles results in impaired skin growth that is unable to keep pace with the rapidly elongating axial skeleton of the tail. Thus, in addition to their role in wound repair, hair follicles can make a significant contribution to lateral expansion of the interfollicular epidermis in the absence of trauma

    Genetic Variation in the Familial Mediterranean Fever Gene (MEFV) and Risk for Crohn's Disease and Ulcerative Colitis

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    BACKGROUND AND AIMS: The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflammasome. The NLRP3 region was recently reported to be associated with Crohn's disease (CD) susceptibility. We therefore sought to evaluate MEFV as an inflammatory bowel disease (IBD) susceptibility gene. METHODOLOGY AND RESULTS: MEFV colonic mucosal gene expression was significantly increased in experimental colitis mice models (TNBS p<0.0003; DSS p<0.006), in biopsies from CD (p<0.02) and severe ulcerative colitis (UC) patients (p<0.008). Comprehensive genetic screening of the MEFV region in the Belgian exploratory sample set (440 CD trios, 137 UC trios, 239 CD cases, 96 UC cases, and 107 healthy controls) identified SNPs located in the MEFV 5' haplotype block that were significantly associated with UC (rs224217; p = 0.003; A allele frequency: 56% cases, 45% controls), while no CD associations were observed. Sequencing and subsequent genotyping of variants located in this associated haplotype block identified three synonymous variants (D102D/rs224225, G138G/rs224224, A165A/rs224223) and one non-synonymous variant (R202Q/rs224222) located in MEFV exon 2 that were significantly associated with UC (rs224222: p = 0.0005; A allele frequency: 32% in cases, 23% in controls). No consistent associations were observed in additional Canadian (256 CD trios, 91 UC trios) and Scottish (495 UC, 370 controls) sample sets. We note that rs224222 showed marginal association (p = 0.012; G allele frequency: 82% in cases, 70% in controls) in the Canadian sample, but with a different risk allele. None of the NLRP3 common variants were associated with UC in the Belgian-Canadian UC samples and no significant interactions were observed between NLRP3 and MEFV that could explain the observed flip-flop of the rs224222 risk allele. CONCLUSION: The differences in association levels observed between the sample sets may be a consequence of distinct founder effects or of the relative small sample size of the cohorts evaluated in this study. However, the results suggest that common variants in the MEFV region do not contribute to CD and UC susceptibility.Journal ArticleResearch Support, N.I.H. ExtramuralResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Der Geologische Dienst in Sachsen: Festband zum JubilÀum 150 Jahre Landesgeologie

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    Der Geologische Dienst von Sachsen feiert im Jahr 2022 sein 150-jĂ€hriges JubilĂ€um – am 6. April 1872 wurde die Geologische Landesuntersuchung im Königreich Sachsen gegrĂŒndet. Auf 153 Seiten der Reihe „Geoprofil“ werden Einblicke in die Arbeit des Geologischen Dienstes im LfULG, seinen Aufgaben und die Dienste als zustĂ€ndige Fachbehörde gegeben. Die elf EinzelbeitrĂ€ge zeigen die aktuellen Herausforderungen und Chancen, die sich aus den Themenbereichen Umwelt, Naturschutz und Geologie fĂŒr Sachsen stellen. Im Einzelnen geht es in den BeitrĂ€gen um die sĂ€chsische Rohstoffstrategie, die Suche nach einem Endlagerstandort fĂŒr radioaktive AbfĂ€lle, ErdwĂ€rme, Hydrogeologie, die Eisenbahn Neubaustrecke Dresden – Prag, Naturgefahren, das geowissenschaftliche Archiv, TrĂ€ger öffentlicher Belange (TöB), Geoparks und einen Blick in die 150 jĂ€hrige Geschichte. Redaktionsschluss: 30.11.202

    Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

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    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

    Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Get PDF
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology
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