2,458 research outputs found
TBX2 gene duplication associated with complex heart defect and skeletal malformations
No full textWe report on a patient with mild mental retardation, prenatal
onset growth retardation, cerebellar hypoplasia, and complex
heart defect including: interventricular septal defect, patent
foramen ovale, aortic coarctation, tricuspid valve insufficiency,
mitral valve stenosis, and minor skeletal anomalies with hypoaplasia
of the distal phalanges.ASNP-array analysis detected a de
novo duplication of 17q23.2, encompassing the TBX2 gene.
Animal models argue for a key role of Tbx2 during cardiac
and limb development. Accordingly, we hypothesize that the
heart malformation and mild digital anomalies found in this
patient could be related to TBX2 gene overexpression, suggesting
parallel consequences of TBX2 gene dosage imbalances in
animals and in humans
Community radio in Ireland: building community, participation and multi-flow communication
No full textThe core aims of community radio stations foreground the principle of participation by the people in the communication process. Community radio stations broadcast to build the communities which they serve. Six Irish community radio stations are studied to examine the implementation of these aims. The study asks how community radio stations
• try to build the communities in which they broadcast?
• promote multi-flow communication?
• facilitate participation?
Three main frameworks are employed in the analysis of the research. The ideal construct of community is understood to be formed on the four bases of place, relationship, time and belief. Enzensberger’s dichotomy of repressive and emancipatory media is built upon to examine how multi-flow communication can be facilitated. A hierarchical model which identifies seven possible levels of participation in media is employed.
The key finding of the study is that it is the facilitation of participation which enables community radio stations to successfully implement their core aims. Irish community radio stations seek to build their communities. Many of them adopt a community development approach to their work. Irish community radio stations facilitate the human right to communicate. They do this by providing a communications link for their communities. This provides the basis for communication to flow in many directions rather than in the traditional, one-way flow of mass media generally. Irish community radio stations frequently target specific segments of their communities which enables the provision of multi, micro-public spheres.
Reflections on the observed practice of the community radio stations studied, when linked to the conceptual frameworks outlined, provide useful norms to inform the emerging communication theory of community media
The Reproducibility of Lists of Differentially Expressed Genes in Microarray Studies
No full textReproducibility is a fundamental requirement in scientific experiments and clinical contexts. Recent publications raise concerns about the reliability of microarray technology because of the apparent lack of agreement between lists of differentially expressed genes (DEGs). In this study we demonstrate that (1) such discordance may stem from ranking and selecting DEGs solely by statistical significance (P) derived from widely used simple t-tests; (2) when fold change (FC) is used as the ranking criterion, the lists become much more reproducible, especially when fewer genes are selected; and (3) the instability of short DEG lists based on P cutoffs is an expected mathematical consequence of the high variability of the t-values. We recommend the use of FC ranking plus a non-stringent P cutoff as a baseline practice in order to generate more reproducible DEG lists. The FC criterion enhances reproducibility while the P criterion balances sensitivity and specificity
Sindrome del meningocele (multiplo) laterale: una rara patologia ereditaria del tessuto connettivo distinta dalle sindromi di Loeys-Dietz.
No full textNatural history of TRF2-related hereditary hemochromatosis in a 47-yr-old Italian patient.
No full textLe Corbeau et le Renard: 99 versions réinventées: Style d'exercices
No full textThis book represents a fascinating effort. At first I thought it was going to be a collection of various parodies of La Fontaine's FC. It is not that, but rather a creative presentation of some 97 different versions of La Fontaine created by the author. The first two versions are a French translation of the Greek prose of the most original FC text in the Aesopic manuscripts and then La Fontaine's verse. Thereafter the fun begins! The imagination and the execution of this project are both remarkable. Let me offer a sample of five approaches: (1) an acrostic, so that the opening letters of each verse spell "M Jean La Fontaine"; (2) a prose version after the manner of Balzac; (3) a scientific version needing more than a full page; (4) a tourist guide version; and (5) a rhyming version in English. T of C at the end. 136 pages. 5¼" x 8". Printed upon demand.Language note: FrenchNicolas Mille
FC Omniworld
No full textHet maken van een stedenbouwkundig plan voor de locatie Almere Poort in Almere. Hierbij is het programma van de Gemeente, zoals gespecificeerd voor de locatie, overgenomen. De kern van het nieuwe plan is een centrale (groene) as waaraan alle centrumfuncties voor deze wijk worden gerealiseerd. Deze nieuwe as zorgt, door de combinatie van functies met verschillende gebruikstijden, voor een continue drukte op deze centrale as. Aan een van de eindes van de as ligt een verhoogd maaiveld. Dit maaiveld gaat over het spoortalud zodat men het spoor over kan steken zonder tunnel of spoorwegovergang. In dit talud worden diverse functies gehuisvest welke normaal dichte dozen zijn (zoals parkeren, expo ruimten en sportzalen). Deze functies met voornaleijk dichte gevels worden omkleed met kleinschalige functies om continue activiteit bij het verhoogde maaiveld te genereren en om interessante gevelbeelden te hebben (i.p.v. dichte wanden van grootschalige functies). In het verhoogde maaiveld ligt verdiept het nieuwe stadion voor FC Omniworld. Dit stadion wordt zo opgenomen in een natuurlijke en groene omgeving. De dakconstructie bestaat uit houten spanten en een semi-transparant doek om zo goed mogelijk aan te sluiten op het park bovenop het nieuwe maaiveld. Bezoekers komen ook via het park binnen. Op dit niveau kan men rondlopen om versnaperingen te kopen en vervolgens af te dalen naar de tribunes. Het stadion is in de toekomst uit te breiden door nieuwe tribunes te positioneren boven de promenade van het stadion en onder het dak. Hiervoor zijn geen aanpassingen vereist. Tevens is het stadion multifuntioneel te gebruiken door verplaatsbare tribunedelen.Architectur
Plant expression of cocaine hydrolase-Fc fusion protein for treatment of cocaine abuse
No full textBACKGROUND: A recently reported cocaine hydrolase (CocH3) fused with fragment crystallizable (Fc) region of human immunoglobulin G1, denoted as CocH3-Fc, is known as a promising therapeutic candidate for the treatment of cocaine overdose and addiction. A challenge for practical therapeutic use of this enzyme exists in the large-scale protein production and, therefore, it is interesting to identify a low-cost and feasible, sustainable source of CocH3-Fc production.
RESULTS: CocH3-Fc was transiently expressed in plant Nicotiana benthamiana leaves. The plant-expressed protein, denoted as pCocH3-Fc, was as active as that expressed in mammalian cells both in vitro and in vivo. However, compared to the mammalian-cell expressed CocH3-Fc protein, pCocH3-Fc had a shorter biological half-life, probably due to the lack of protein sialylation in plant. Nevertheless, the in vivo half-life was significantly extended upon the PEGylation of pCocH3-Fc. The Fc fusion did not prolong the biological half-life of the plant-expressed enzyme pCocH3-Fc, but increased the yield of the enzyme expression in the plant under the same experimental conditions.
CONCLUSIONS: It is feasible to express pCocH3-Fc in plants. Further studies on the pCocH3-Fc production in plants should focus on the development of vectors with additional genes/promoters for the complete protein sialylation and for a better yield
Stable Foliage Cluster (FC), a Basic Unit of the Crown Structure of Tree Species and Its Application to Modeling of Tree and Forest Structure: Configuration of the FC Model
No full textThe "foliage cluster (FC) model" shows that the size (the amount of leaves, number of yearly shoots and total twig length), turnover time, and branching (i.e., forking) structure of a twig becomes stable in the top of the crown in an oak species by forming a "stable FC" [1]. A stable FC can be treated as a basic component of the crown structure and as an alternative to individual leaf or current-year shoot. The FC model is composed of several equations approximating the branching structure of twigs. Differences in size and branching morphology among twigs are represented by differences in values of the parameters of the equations. We described details of our analyses of data taken from real twigs and applied to the equations implemented in the FC model
Financial analysis of FC SLOVAN Liberec
No full textThesis "Financial analysis of FC Slovan Liberec" focuses especially on reviewing financial position and efficiency of this football club in four year period. The first theoretical part is complemented with practical calculations in the second part. In the second part author focuses on horizontal analysis, vertical analysis and other models of financial analysis
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