975 research outputs found

    New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes.

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    Comparison and characterization of α-amylase inducers in Aspergillus nidulans based on nuclear localization of AmyR

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    AmyR, a fungal transcriptional activator responsible for induction of amylolytic genes in Aspergillus nidulans, localizes to the nucleus in response to the physiological inducer isomaltose. Maltose, kojibiose, and d-glucose were also found to trigger the nuclear localization of GFP-AmyR. Isomaltose- and kojibiose-triggered nuclear localization was not inhibited by the glucosidase inhibitor, castanospermine, while maltose-triggered localization was inhibited. Thus, maltose itself does not appear to be an direct inducer, but its degraded or transglycosylated product does. Non-metabolizable d-glucose analogues were also able to trigger the nuclear localization, implying that these sugars, except maltose, directly function as the inducers of AmyR nuclear entry. The inducing activity of d-glucose was 4 orders-of-magnitude weaker compared with isomaltose. Although d-glucose has the ability to induce α-amylase production, this activity would generally be masked by CreA-dependent carbon catabolite repression. Significant induction of α-amylase by d-glucose was observed in creA-defective A. nidulans

    Fermi Surface as a Driver for the Shape-Memory Effect in AuZn

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    Martensites are materials that undergo diffusionless, solid-state transitions. The martensitic transition yields properties that depend on the history of the material and may allow it to recover its previous shape after plastic deformation. This is known as the shape-memory effect (SME). We have succeeded in identifying the primary electronic mechanism responsible for the martensitic transition in the shape-memory alloy AuZn by using Fermi-surface measurements (de Haas-van Alphen oscillations) and band-structure calculations. This strongly suggests that electronic band structure is an important consideration in the design of future SME alloys

    Parathyroid adenoma apoplexy as a temporary solution of primary hyperparathyroidism: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>The natural history of patients with spontaneous parathyroid necrosis is unknown. In this case report we describe the clinical course, laboratory, radiographic, bone densitometry tests, parathyroid ultrasonography and scintigraphy examinations of a patient performed over a period of eight years after she first presented with a sudden episode of spontaneous resolution of primary hyperparathyroidism (PHPT).</p> <p>Case presentation</p> <p>A 24-year-old woman with a clinical history and laboratory and radiographic tests compatible with PHPT suffered a sudden episode of cervical pain and presented with clinical evidence of hypocalcemia. Biopsy of a cervical nodule revealed necrotic material compatible with ischemia of the parathyroid. The follow-up of the patient presented four distinct phases: the first, which lasted two years, was compatible with a period of bone hunger during which it was necessary to introduce calcitriol and calcium carbonate. During this period, the patient showed bone mass gain. The second phase was characterized by normalization of calcium and parathyroid hormone levels and its end was difficult to define. During the third phase there was a recurrence of hypercalcemia associated with elevated parathyroid hormone (PTH) levels and loss of bone mass. The last phase corresponded to the interval after parathyroidectomy, which was characterized by normalization of serum levels of calcium and PTH, as well as bone mass gain.</p> <p>Conclusion</p> <p>This case report indicates that spontaneous resolution of PHPT by adenoma necrosis is potentially temporary. Thus, in cases in which a conservative approach is chosen, clinical and laboratory follow-up is indispensable. Bone mass measurement is a useful tool in the follow-up of these cases. However, this option exposes the patient to a potential roller-coaster ride of bone mass gain and loss, whose long term consequences are still unknown.</p

    Laboratory measurements of resistivity in warm dense plasmas relevant to the microphysics of brown dwarfs

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    Since the observation of the first brown dwarf in 1995, numerous studies have led to a better understanding of the structures of these objects. Here we present a method for studying material resistivity in warm dense plasmas in the laboratory, which we relate to the microphysics of brown dwarfs through viscosity and electron collisions. Here we use X-ray polarimetry to determine the resistivity of a sulphur-doped plastic target heated to Brown Dwarf conditions by an ultra-intense laser. The resistivity is determined by matching the plasma physics model to the atomic physics calculations of the measured large, positive, polarization. The inferred resistivity is larger than predicted using standard resistivity models, suggesting that these commonly used models will not adequately describe the resistivity of warm dense plasma related to the viscosity of brown dwarfs

    The Life-Cycle of Operons

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    Operons are a major feature of all prokaryotic genomes, but how and why operon structures vary is not well understood. To elucidate the life-cycle of operons, we compared gene order between Escherichia coli K12 and its relatives and identified the recently formed and destroyed operons in E. coli. This allowed us to determine how operons form, how they become closely spaced, and how they die. Our findings suggest that operon evolution may be driven by selection on gene expression patterns. First, both operon creation and operon destruction lead to large changes in gene expression patterns. For example, the removal of lysA and ruvA from ancestral operons that contained essential genes allowed their expression to respond to lysine levels and DNA damage, respectively. Second, some operons have undergone accelerated evolution, with multiple new genes being added during a brief period. Third, although genes within operons are usually closely spaced because of a neutral bias toward deletion and because of selection against large overlaps, genes in highly expressed operons tend to be widely spaced because of regulatory fine-tuning by intervening sequences. Although operon evolution may be adaptive, it need not be optimal: new operons often comprise functionally unrelated genes that were already in proximity before the operon formed

    Determining the Physical Lens Parameters of the Binary Gravitational Microlensing Event MOA-2009-BLG-016

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    We report the result of the analysis of the light curve of the microlensing event MOA-2009-BLG-016. The light curve is characterized by a short-duration anomaly near the peak and an overall asymmetry. We find that the peak anomaly is due to a binary companion to the primary lens and the asymmetry of the light curve is explained by the parallax effect caused by the acceleration of the observer over the course of the event due to the orbital motion of the Earth around the Sun. In addition, we detect evidence for the effect of the finite size of the source near the peak of the event, which allows us to measure the angular Einstein radius of the lens system. The Einstein radius combined with the microlens parallax allows us to determine the total mass of the lens and the distance to the lens. We identify three distinct classes of degenerate solutions for the binary lens parameters, where two are manifestations of the previously identified degeneracies of close/wide binaries and positive/negative impact parameters, while the third class is caused by the symmetric cycloid shape of the caustic. We find that, for the best-fit solution, the estimated mass of the lower-mass component of the binary is (0.04 +- 0.01) M_sun, implying a brown-dwarf companion. However, there exists a solution that is worse only by \Delta\chi^2 ~ 3 for which the mass of the secondary is above the hydrogen-burning limit. Unfortunately, resolving these two degenerate solutions will be difficult as the relative lens-source proper motions for both are similar and small (~ 1 mas/yr) and thus the lens will remain blended with the source for the next several decades.Comment: 7 pages, 2 tables, and 5 figure

    PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning

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    PosMed (http://omicspace.riken.jp/) prioritizes candidate genes for positional cloning by employing our original database search engine GRASE, which uses an inferential process similar to an artificial neural network comprising documental neurons (or ‘documentrons’) that represent each document contained in databases such as MEDLINE and OMIM. Given a user-specified query, PosMed initially performs a full-text search of each documentron in the first-layer artificial neurons and then calculates the statistical significance of the connections between the hit documentrons and the second-layer artificial neurons representing each gene. When a chromosomal interval(s) is specified, PosMed explores the second-layer and third-layer artificial neurons representing genes within the chromosomal interval by evaluating the combined significance of the connections from the hit documentrons to the genes. PosMed is, therefore, a powerful tool that immediately ranks the candidate genes by connecting phenotypic keywords to the genes through connections representing not only gene–gene interactions but also other biological interactions (e.g. metabolite–gene, mutant mouse–gene, drug–gene, disease–gene and protein–protein interactions) and ortholog data. By utilizing orthologous connections, PosMed facilitates the ranking of human genes based on evidence found in other model species such as mouse. Currently, PosMed, an artificial superbrain that has learned a vast amount of biological knowledge ranging from genomes to phenomes (or ‘omic space’), supports the prioritization of positional candidate genes in humans, mouse, rat and Arabidopsis thaliana