361 research outputs found

    New locus for autosomal dominant stargardt-like disease maps to chromosome 4

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    Journal ArticleStargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4

    Verbien muuttumisjohdokset Tove Janssonin teoksissa ja venäjänkielisten suomenoppijoiden muuttumisjohdosten hallinta

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    Tarkastelen pro gradu -työssäni verbien muuttumisjohdoksia Tove Janssonin teoksissa ja venäjänkielisten suomenoppijoiden muuttumisjohdosten hallintaa. Tässä tutkimuksessa aineisto on kerätty Tove Janssonin kirjoista. Analysoin ja teen kyselytehtävän opiskelijoilleni verbijohdoksia ottaen. Käytän tehtävässä kokonaisia lauseita, jotka tulevat Tove Janssonilta. Tutkimuksen tavoitteet ovat ottaa selvää muuttumisjohdoksista ja niiden erikoispiirteistä suomen kielessä, käsittää verbejä oikein ja selkeää konkreettisten kontekstien mukaisesti. Sen lisäksi tämän pro gradu - työn tavoite on selvittää asioita, jotka kuuluvat S2- opetukseen, näyttää miten suomea opiskelevat venäjänkieliset oppijat tuntevat näitä muuttumisjohdoksia. Tove Janssonin teoksista verbijohdosten mukaan lauseita kerättyäni ja niitä analysoituani tein johtopäätöksen, että opiskelijoille transitiiviset muuttumisjohdokset näyttävät vaikeimmilta ja epäselviltä. Muuttumisjohdosten tunnistaminen riippuu myös siitä, onko verbillä vasteneitta. Joskus on erittäin vaikea löytää verbien käännös äidinkieleen sanakirjasta

    Lehrer-Schüler-Verhältnisse und Diskussionen um die Nachfolge Jacques Handschins am Basler Lehrstuhl für Musikwissenschaft

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    Based upon recently discovered letters between Paul Sacher and Manfred Bukofzer as well as some sources from Jacques Handschin’s archive, this article reexamines an important moment in the history of musical life in Basel: the autumn of 1955 and the search for a new head of the Basel musicology department, which became one of the centres of international musicology in the post-war era.Based upon recently discovered letters between Paul Sacher and Manfred Bukofzer as well as some sources from Jacques Handschin’s archive, this article reexamines an important moment in the history of musical life in Basel: the autumn of 1955 and the search for a new head of the Basel musicology department, which became one of the centres of international musicology in the post-war era.Based upon recently discovered letters between Paul Sacher and Manfred Bukofzer as well as some sources from Jacques Handschin’s archive, this article reexamines an important moment in the history of musical life in Basel: the autumn of 1955 and the search for a new head of the Basel musicology department, which became one of the centres of international musicology in the post-war era.Based upon recently discovered letters between Paul Sacher and Manfred Bukofzer as well as some sources from Jacques Handschin’s archive, this article reexamines an important moment in the history of musical life in Basel: the autumn of 1955 and the search for a new head of the Basel musicology department, which became one of the centres of international musicology in the post-war era

    Agencies and the client system of mediating work for migrants from SNS and Ukraine in Czechia (pros and cons)

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    Mezinárodní migrace ovlivňuje hospodářství jak v cílových, tak i v zdrojových zemích. Děje se tak v důsleku toho, že zahraniční pracovníci posílají finanční remitence domů a podporují ekonomiku ve zdrojové zemi. Zároveň uspokojují poptávku po pracovní síle v cílové zemi, čímž zlepšují její finanční klima. Pracovní agentury a klientský systém patří mezi nejvýznamnější prvky, které umožňují migrantům získat zaměstnání a často a poskytují další služby pro zajištění pobytu v hostitelské zemi. Teoretickým východiskem této práce je neoinstitucionální teorie, její koncept omezené racionality člověka a koncept omezeného výběru v kontextu pravidel regulovaných institucemi. Dalším východiskem pro tuto práci posloužila teorie migračních sítí. V teoretické části jsou představeny pracovní agentury a tzv. klientský systém, který vykonává stejnou činnost na nelegální úrovni. V jádru práce byly prozkoumány tyto institucionální jednotky z hlediska historického, právního a společenského.. Základní kvalitativní výzkum prověřuje koncept omezeného výběru institucionální teorie a teorie migračních sítí na příkladu devítí migrantů ze Společenství nezávislých států (SNS) a Ukrajiny, s nimiž byly provedeny polostrukturované hloubkové rozhovory. Během rozhovorů byly zaznamenávány potenciální a faktické dopady činnosti...1 Abstract International migration has an impact on the economy in both the receiving and the sending countries due to the fact that foreign workers will 'reinvest' the financial remittances in their home country and support the domestic economy in the source state while fulling the demand for work in the receiving country and improving the financial climate in the host state. Work agencies and the client system are some of the most important details of this system that allows migrants to get a job and often facilitates participation and provides additional services to organize their stay in the host country. The theoretical basis of this thesis is the migration network theory and also the neoinstitutional theory with its concept of limited human rationality as well as a concept of institutional "limitations" in the context of created institutional rules. In the theoretical part of this work the agency and the so-called client system, which performs the same duties on an illegal level, - were explored as institutional units in their historical, real, social dimensions. Basic qualitative research examines the concept of the migration network theory and the concept of limited choice of institutional theory on the example of nine migrants from the Commonwealth of Independent States (CIS) and Ukraine with...Katedra sociální geografie a region. rozvojeDepartment of Social Geography and Regional Develop.Faculty of SciencePřírodovědecká fakult

    Jacques Handschin als Reger-Schüler

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    Jacques Handschin (1886 Moskau/Russland–1955 Basel/Schweiz) war ein hervorragender schweizerisch-russischer Organist und Musikwissenschaftler aus der Max Reger unmittelbar nachfolgenden Generation. Die Hauptperiode seiner wissenschaftlichen Tätigkeit verbrachte Handschin nach 1920 in der Schweiz: Hier verfasste er seine bedeutendsten Arbeiten, und seit 1935 leitete er hier das musikwissenschaftliche Seminar der Universität Basel. Doch seine Jugend hatte Handschin in Russland verbracht, hier war er geboren worden, wuchs er auf und leitete elf Jahre (1909–1920) die Orgelklasse des Petersburger Konservatoriums. Die Forschungen zeigten, dass Jacques Handschin – ein Musiker, der dann zum (Musik)Wissenschaftler wurde – im gewissen Sinne für sein Leben lang ein praktizierender Musiker blieb, und als ein solcher stand er unter dem starken Einfluss von Max Reger. Wie äußerte sich dieser Einfluss, mit welchen Ereignissen war dies verbunden, und wie genau bestimmte dieser Einfluss das weitere Leben und Werk Handschins

    Effects of Extracellular Matrix Density and Mesenchymal Stem Cells on Neovascularization In Vivo

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    Aberrant angiogenesis is common to a variety of diseases in which alterations in tissue mechanical properties also occur. A fundamental understanding of the interdependence of angiogenesis and tissue structural properties may enhance the development of therapeutic strategies. We previously established that increasing extracellular matrix density inhibits capillary morphogenesis in three-dimensional tissues in vitro, and that addition of human mesenchymal stem cells (MSCs) partially rescues a healthy angiogenic phenotype. This study's goal was to investigate if these effects can be recapitulated in vivo. Human umbilical vein endothelial cells, MSCs, or a mixture of both was suspended in fibrin gel precursor solutions of 5, 10, and 15-mg/mL concentrations and injected subcutaneously into SCID mice. Neovascularization was assessed in tissue constructs retrieved at 3, 7, and 21 days by quantifying vessel numbers, perfusion, thickness, maturity, and perivascular collagen deposition. The data show that changing extracellular matrix density inhibits capillary morphogenesis in vivo in a manner consistent with that observed in vitro. Delivery of both human umbilical vein endothelial cells and MSCs produced more robust and mature vessels than delivery of either cell type alone in all tissue concentrations.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90460/1/ten-2Etea-2E2010-2E0275.pd
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