1,693 research outputs found

    The effect of boron on mechanical and functional properties in the ironbased alloy

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    The mechanical properties and superelastic behavior were studied on [001]-single crystals of Fe-28%Ni-17%Co-11.5%Al-2.5% Х (at. %) (X=Ta, TaВ) alloy. It is shown that boron affects on the mechanical and functional properties in the iron-based alloy

    Characterization of hemizygous deletions in Citrus using array-Comparative Genomic Hybridization and microsynteny comparisons with the poplar genome

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    <p>Abstract</p> <p>Background</p> <p>Many fruit-tree species, including relevant <it>Citrus </it>spp varieties exhibit a reproductive biology that impairs breeding and strongly constrains genetic improvements. In citrus, juvenility increases the generation time while sexual sterility, inbreeding depression and self-incompatibility prevent the production of homozygous cultivars. Genomic technology may provide citrus researchers with a new set of tools to address these various restrictions. In this work, we report a valuable genomics-based protocol for the structural analysis of deletion mutations on an heterozygous background.</p> <p>Results</p> <p>Two independent fast neutron mutants of self-incompatible clementine (<it>Citrus clementina </it>Hort. Ex Tan. cv. Clemenules) were the subject of the study. Both mutants, named 39B3 and 39E7, were expected to carry DNA deletions in hemizygous dosage. Array-based Comparative Genomic Hybridization (array-CGH) using a <it>Citrus </it>cDNA microarray allowed the identification of underrepresented genes in these two mutants. Subsequent comparison of citrus deleted genes with annotated plant genomes, especially poplar, made possible to predict the presence of a large deletion in 39B3 of about 700 kb and at least two deletions of approximately 100 and 500 kb in 39E7. The deletion in 39B3 was further characterized by PCR on available <it>Citrus </it>BACs, which helped us to build a partial physical map of the deletion. Among the deleted genes, <it>ClpC</it>-like gene coding for a putative subunit of a multifunctional chloroplastic protease involved in the regulation of chlorophyll <it>b </it>synthesis was directly related to the mutated phenotype since the mutant showed a reduced chlorophyll <it>a</it>/<it>b </it>ratio in green tissues.</p> <p>Conclusion</p> <p>In this work, we report the use of array-CGH for the successful identification of genes included in a hemizygous deletion induced by fast neutron irradiation on <it>Citrus clementina</it>. The study of gene content and order into the 39B3 deletion also led to the unexpected conclusion that microsynteny and local gene colinearity in this species were higher with <it>Populus trichocarpa </it>than with the phylogenetically closer <it>Arabidopsis thaliana</it>. This work corroborates the potential of <it>Citrus </it>genomic resources to assist mutagenesis-based approaches for functional genetics, structural studies and comparative genomics, and hence to facilitate citrus variety improvement.</p

    Assembly of viral genomes from metagenomes

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    Viral infections remain a serious global health issue. Metagenomic approaches are increasingly used in the detection of novel viral pathogens but also to generate complete genomes of uncultivated viruses. In silico identification of complete viral genomes from sequence data would allow rapid phylogenetic characterization of these new viruses. Often, however, complete viral genomes are not recovered, but rather several distinct contigs derived from a single entity are, some of which have no sequence homology to any known proteins. De novo assembly of single viruses from a metagenome is challenging, not only because of the lack of a reference genome, but also because of intrapopulation variation and uneven or insufficient coverage. Here we explored different assembly algorithms, remote homology searches, genome-specific sequence motifs, k-mer frequency ranking, and coverage profile binning to detect and obtain viral target genomes from metagenomes. All methods were tested on 454-generated sequencing datasets containing three recently described RNA viruses with a relatively large genome which were divergent to previously known viruses from the viral families Rhabdoviridae and Coronaviridae. Depending on specific characteristics of the target virus and the metagenomic community, different assembly and in silico gap closure strategies were successful in obtaining near complete viral genomes.This work was partially funded by the Virgo Consortium, funded by the Dutch government project number FES0908, by Netherlands Genomics Initiative (NGI) project number 050-060-452 and ZonMW TOP project 91213058. A. Ruiz-Gonzalez holds a Post doc fellowship awarded by the Department of Education, Universities and Research of the Basque Government (Ref. DKR-2012-64) and was partially supported by the Research group on "Systematics, Biogeography and Population Dynamics" (Basque Government; Ref. IT317-10; GIC10/76)

    A Luminous, Fast Rising UV-Transient Discovered by ROTSE: a Tidal Disruption Event?

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    We present follow-up observations of an optical transient (OT) discovered by ROTSE on Jan. 21, 2009. Photometric monitoring was carried out with ROTSE-IIIb in the optical and Swift in the UV up to +70 days after discovery. The light curve showed a fast rise time of ~10 days followed by a steep decline over the next 60 days, which was much faster than that implied by 56Ni - 56Co radioactive decay. The SDSS DR10 database contains a faint, red object at the position of the OT, which appears slightly extended. This and other lines of evidence suggest that the OT is of extragalactic origin, and this faint object is likely the host galaxy. A sequence of optical spectra obtained with the 9.2-m Hobby-Eberly Telescope (HET) between +8 and +45 days after discovery revealed a hot, blue continuum with no visible spectral features. A few weak features that appeared after +30 days probably originated from the underlying host. Fitting synthetic templates to the observed spectrum of the host galaxy revealed a redshift of z = 0.19. At this redshift the peak magnitude of the OT is close to -22.5, similar to the brightest super-luminous supernovae; however, the lack of identifiable spectral features makes the massive stellar death hypothesis less likely. A more plausible explanation appears to be the tidal disruption of a sun-like star by the central super-massive black hole. We argue that this transient likely belongs to a class of super-Eddington tidal disruption events.Comment: 13 pages, accepted for publication in ApJ; some references adde

    Abundance stratification in Type Ia supernovae - III. The normal SN 2003du

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    The element abundance distributions in the ejecta of Type Ia supernova (SN) is studied by modelling a time series of optical spectra of SN 2003du until ~1 year after the explosion. Since SN 2003du is a very normal Type Ia SN both photometrically and spectroscopically, the abundance distribution derived for it can be considered as representative of normal Type Ia SNe. We find that the innermost layers are dominated by stable Fe-group elements, with a total mass of ~ 0.2 Msun, which are synthesized through electron capture. Above the core of stable elements there are thick 56Ni-rich layers. The total mass of 56Ni is 0.65 Msun. The Si- and S-rich layers are located above the 56Ni-rich layers. The dominant element in the outermost layers (M_r > 1.1 Msun, v > 13000 km/s) is O, with a small amount of Si. Little unburned C remains, with an upper limit of 0.016 Msun. The element distributions in the ejecta are moderately mixed, but not fully mixed as seen in three-dimensional deflagration models.Comment: 15 pages, 11 figures, Accepted for publication in MNRA

    Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

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    Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington's disease (HD). Upon expansion, disease loci acquire heterochromatic characteristics, which may provoke changes to chromatin conformation and thereby affect both gene expression and repeat instability. Here, we tested this hypothesis by performing 4C sequencing at the DMPK and HTT loci from DM1 and HD-derived cells. We find that allele sizes ranging from 15 to 1700 repeats displayed similar chromatin interaction profiles. This was true for both loci and for alleles with different DNA methylation levels and CTCF binding. Moreover, the ectopic insertion of an expanded CAG repeat tract did not change the conformation of the surrounding chromatin. We conclude that CAG/CTG repeat expansions are not enough to alter chromatin conformation in cis. Therefore, it is unlikely that changes in chromatin interactions drive repeat instability or changes in gene expression in these disorders

    Microblotches on dermoscopy of melanocytic lesions are associated with melanoma: A cross-sectional study

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    Numerous dermoscopic structures for the early detection of melanoma have been described. The aim of this study was to illustrate the characteristics of dermoscopic structures that are similar to blotches, but smaller (termed microblotches), and to evaluate their association with other well-known dermoscopic structures. A cross-sectional study design, including 165 dermoscopic images of melanoma was used to define microblotches, and 241 consecutive images of naevi from the HAM10000 database, were studied to evaluate the prevalence of this criterion in both groups. Microblotches were defined as sharply demarcated structures ≤1 mm, with geographical borders visible only with dermoscopy. Microblotches were present in 38.7% of the melanomas and 6.7% of the naevi. Moreover, microblotches were associated with an odds ratio (OR) of malignancy of 5.79, and were more frequent in invasive melanoma than in the in-situ subtype (OR 2.92). Histologically, they correspond to hyperpigmented parakeratosis or epidermal consumption. In conclusion, microblotches are related to melanomas. This finding could help dermatologists to differentiate between naevi and melanomas

    Fourteen Months of Observations of the Possible Super-Chandrasekhar Mass Type Ia Supernova 2009dc

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    In this paper, we present and analyse optical photometry and spectra of the extremely luminous and slowly evolving Type Ia supernova (SN Ia) 2009dc, and offer evidence that it is a super-Chandrasekhar mass (SC) SN Ia and thus had a SC white dwarf (WD) progenitor. Optical spectra of SN 2007if, a similar object, are also shown. SN 2009dc had one of the most slowly evolving light curves ever observed for a SN Ia, with a rise time of ~23 days and Delta m_15(B) = 0.72 mag. We calculate a lower limit to the peak bolometric luminosity of ~2.4e43 erg/s, though the actual value is likely almost 40% larger. Optical spectra of SN 2009dc and SN 2007if obtained near maximum brightness exhibit strong C II features (indicative of a significant amount of unburned material), and the post-maximum spectra are dominated by iron-group elements. All of our spectra of SN 2009dc and SN 2007if also show low expansion velocities. However, we see no strong evidence in SN 2009dc for a velocity "plateau" near maximum light like the one seen in SN 2007if (Scalzo et al. 2010). The high luminosity and low expansion velocities of SN 2009dc lead us to derive a possible WD progenitor mass of more than 2 M_Sun and a Ni-56 mass of about 1.4-1.7 M_Sun. We propose that the host galaxy of SN 2009dc underwent a gravitational interaction with a neighboring galaxy in the relatively recent past. This may have led to a sudden burst of star formation which could have produced the SC WD progenitor of SN 2009dc and likely turned the neighboring galaxy into a "post-starburst galaxy." No published model seems to match the extreme values observed in SN 2009dc, but simulations do show that such massive progenitors can exist (likely as a result of the merger of two WDs) and can possibly explode as SC SNe Ia.Comment: 30 pages, 16 figures, 8 tables, re-submitted to MNRA

    Differentiating IDH-mutant astrocytomas and 1p19q-codeleted oligodendrogliomas using DSC-PWI:high performance through cerebral blood volume and percentage of signal recovery percentiles

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    Objective: Presurgical differentiation between astrocytomas and oligodendrogliomas remains an unresolved challenge in neuro-oncology. This research aims to provide a comprehensive understanding of each tumor’s DSC-PWI signatures, evaluate the discriminative capacity of cerebral blood volume (CBV) and percentage of signal recovery (PSR) percentile values, and explore the synergy of CBV and PSR combination for pre-surgical differentiation. Methods: Patients diagnosed with grade 2 and 3 IDH-mutant astrocytomas and IDH-mutant 1p19q-codeleted oligodendrogliomas were retrospectively retrieved (2010–2022). 3D segmentations of each tumor were conducted, and voxel-level CBV and PSR were extracted to compute mean, minimum, maximum, and percentile values. Statistical comparisons were performed using the Mann-Whitney U test and the area under the receiver operating characteristic curve (AUC-ROC). Lastly, the five most discriminative variables were combined for classification with internal cross-validation. Results: The study enrolled 52 patients (mean age 45-year-old, 28 men): 28 astrocytomas and 24 oligodendrogliomas. Oligodendrogliomas exhibited higher CBV and lower PSR than astrocytomas across all metrics (e.g., mean CBV = 2.05 and 1.55, PSR = 0.68 and 0.81 respectively). The highest AUC-ROCs and the smallest p values originated from CBV and PSR percentiles (e.g., PSRp70 AUC-ROC = 0.84 and p value = 0.0005, CBVp75 AUC-ROC = 0.8 and p value = 0.0006). The mean, minimum, and maximum values yielded lower results. Combining the best five variables (PSRp65, CBVp70, PSRp60, CBVp75, and PSRp40) achieved a mean AUC-ROC of 0.87 for differentiation. Conclusions: Oligodendrogliomas exhibit higher CBV and lower PSR than astrocytomas, traits that are emphasized when considering percentiles rather than mean or extreme values. The combination of CBV and PSR percentiles results in promising classification outcomes. Clinical relevance statement: The combination of histogram-derived percentile values of cerebral blood volume and percentage of signal recovery from DSC-PWI enhances the presurgical differentiation between astrocytomas and oligodendrogliomas, suggesting that incorporating these metrics into clinical practice could be beneficial. Key Points: • The unsupervised selection of percentile values for cerebral blood volume and percentage of signal recovery enhances presurgical differentiation of astrocytomas and oligodendrogliomas. • Oligodendrogliomas exhibit higher cerebral blood volume and lower percentage of signal recovery than astrocytomas. • Cerebral blood volume and percentage of signal recovery combined provide a broader perspective on tumor vasculature and yield promising results for this preoperative classification.</p

    Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

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    Objective: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. Method: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic paraplegia genes. Results: Segregation analysis revealed in all cases only one parent as a heterozygous mutation carrier whereas the other parent did not carry FA2H mutations. A macro deletion within FA2H, which could have caused a hemizygous genotype, was excluded by multiplex ligation-dependent probe amplification in all cases. Finally, a microsatellite array revealed uniparental disomy (UPD) in all 4 families leading to homozygous FA2H mutations. UPD was confirmed by microarray analyses and methylation profiling. Conclusion: UPD has rarely been described as causative mechanism in neurodegenerative diseases. Of note, we identified this mode of inheritance in 4 families with the rare diagnosis of spastic paraplegia type 35 (SPG35). Since UPD seems to be a relevant factor in SPG35 and probably additional autosomal recessive diseases, we recommend segregation analysis especially in nonconsanguineous homozygous index cases to unravel UPD as mutational mechanism. This finding may bear major repercussion for genetic counseling, given the markedly reduced risk of recurrence for affected families
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