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Search Results: 1 - 10 of 202147 matches for " Susanne N. Weber "
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Nuclear Receptor Variants in Liver Disease
Roman Müllenbach,Susanne N. Weber,Frank Lammert
Journal of Lipids , 2012, DOI: 10.1155/2012/934707
Abstract: This review aims to provide a snapshot of the actual state of knowledge on genetic variants of nuclear receptors (NR) involved in regulating important aspects of liver metabolism. It recapitulates recent evidence for the application of NR in genetic diagnosis of monogenic (“Mendelian”) liver disease and their use in clinical diagnosis. Genetic analysis of multifactorial liver diseases such as viral hepatitis or fatty liver disease identifies key players in disease predisposition and progression. Evidence from these analyses points towards a role of NR polymorphisms in common diseases, linking regulatory networks to complex and variable phenotypes. The new insights into NR variants also offer perspectives and cautionary advice for their use as handles towards diagnosis and treatment. 1. Introduction Systematically, genetic analysis with regard to disease onset and progression can be separated into pre- and post-hoc examination of monogenic or polygenic diseases. Monogenic (“Mendelian”) diseases are caused by a single gene defect and follow relatively straightforward inheritance patterns. The most prominent of these disorders are rather rare, often severe, and characterized by early onset. Genetic testing for monogenic liver disease in symptomatic patients is based on known disease-associated gene variants, thereby confirming the genetic etiology and sometimes allowing prediction of disease progression [1]. In contrast, polygenic diseases such as fatty liver disease and gallstones result from combinations of multiple gene variants and environmental factors, all of which play a role in disease initiation and progression [2]. The assessment of predisposition towards polygenic disease is based on sequence analysis of known contributory genes and construction of “polygenic risk scores” from variants of these genes [1]. Still in its infancy, personal genome information might eventually be able to predict a variety of risks associated with an individual’s lifestyle such as fatty food and alcohol consumption, as well as susceptibility to infectious diseases such as infection with hepatitis B or C virus. 2. Nuclear Receptors Nuclear receptors (NRs) are a subclass of regulatory molecules that orchestrate gene transcription in response to the presence or absence of specific ligands. Due to these functional requirements, they are characterized by the presence of a ligand-binding and a DNA-binding domain. NRs represent a central point of interaction between environment and gene regulation. They are the “hinge” connecting endogenous and environmental stimuli, that is,
People! Selbstorganisation, Systemlernen und Strategiebildung mit gro en GruppenPower to the People! Selbstorganisation, Systemlernen und Strategiebildung mit gro en Gruppen
Susanne Weber
Nómadas , 2003,
Abstract: Gro gruppenverfahren bieten neue M glichkeiten der Gestaltung von Ver nderungsprozessen. Sie sind in Deutschland noch relativ unbekannt, erfreuen sich immer gr erer Beliebtheit und erobern sich nach und nach ihre Terrains. Der folgende Beitrag stellt exemplarisch verschiedene Gro gruppenverfahren vor. Im einzelnen werden die Verfahren Open Space Technology, Appreciative Inquiry, Zukunftskonferenz und Real Time Strategic Change beschrieben und miteinander verglichen. Die Verfahren haben unterschiedliche Qualit ten und setzen unterschiedliche Akzente. Sie sind horizontal oder vertikal ausgerichtet, sie setzen an Werteorientierung oder Strategie an, sie sind gering oder stark strukturiert. In den unterschiedlichsten gesellschaftlichen Kontexten gewinnen diese Verfahren zunehmend an Bedeutung. Wie an zwei Beispielen skizziert werden wird, eignen sich die Verfahren insbesondere auch für die Initiierung institutioneller Vernetzung im sozialen Bereich. In solchen "Lernlaboratorien" findet Lernen nun nicht mehr in den Grenzen einzelner Organisationen statt, sondern bezieht sich auf übergreifende soziale Systeme und thematisch aufeinander bezogene Organisationsnetzwerke. Aus Organisationsentwicklung wird Trans-Organisationsentwicklung
Susanne Weber
Nómadas , 2003,
Estrategias institucionales de cambio y racionalidad de acción social: De pirámides y redes .
Susanne Weber
Espiral , 2000,
Sujeto auto-mejorando, sociedad de laboratorio, universidad de mercado. Ensayo desde una perspectiva teórica de gubernamentalidad
Susanne Maria Weber
Nómadas , 2005,
A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population
Roman Müllenbach, Susanne N Weber, Marcin Krawczyk, Vincent Zimmer, Christoph Sarrazin, Frank Lammert, Frank Günhage
BMC Gastroenterology , 2012, DOI: 10.1186/1471-230x-12-63
Abstract: ABCB11 c.1331?T?>?C genotype was determined by allelic discrimination assay in 649 HCV infected cases and 413 controls. Overall, 444 cases were staged for fibrotic progression by measurement of liver stiffness.Homo- or heterozygous presence of the frequent [C] allele was associated with HCV positivity (OR?=?1.41, CI?=?1.02 - 1.95, p?=?0.037). No association was detectable between the ABCB11 c.1331?T?>?C genotype and increased liver stiffness.Our data confirm that homozygous presence of the major [C] allele of ABCB11 c.1331?T?>?C is a genetic susceptibility factor for HCV infection, but not for liver fibrosis.
Frames of Rights, Entitlement, Need, and Deservingness in the Affordable Care Act  [PDF]
Susanne N. Beechey
Sociology Mind (SM) , 2015, DOI: 10.4236/sm.2015.54021
Abstract: I analyze four frames deployed by members of United States Congress on the floor of the House of Representatives before the initial passage of the Affordable Care Act on November 7, 2009. Of the four frames—need, rights, deservingness, and entitlement—need was by far the most commonly used frame in the debate followed by rights, deservingness, and entitlement. I conclude that while Congress may broadly agree that Americans need and even deserve health care, it provided no right or entitlement to care under the Affordable Care Act.
Transcription Factor TFAP2C Regulates Major Programs Required for Murine Fetal Germ Cell Maintenance and Haploinsufficiency Predisposes to Teratomas in Male Mice
Jana Schemmer, Marcos J. Araúzo-Bravo, Natalie Haas, Sabine Sch?fer, Susanne N. Weber, Astrid Becker, Dawid Eckert, Andreas Zimmer, Daniel Nettersheim, Hubert Schorle
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0071113
Abstract: Maintenance and maturation of primordial germ cells is controlled by complex genetic and epigenetic cascades, and disturbances in this network lead to either infertility or malignant aberration. Transcription factor TFAP2C has been described to be essential for primordial germ cell maintenance and to be upregulated in several human germ cell cancers. Using global gene expression profiling, we identified genes deregulated upon loss of Tfap2c in embryonic stem cells and primordial germ cell-like cells. We show that loss of Tfap2c affects many aspects of the genetic network regulating germ cell biology, such as downregulation of maturation markers and induction of markers indicative for somatic differentiation, cell cycle, epigenetic remodeling and pluripotency. Chromatin-immunoprecipitation analyses demonstrated binding of TFAP2C to regulatory regions of deregulated genes (Sfrp1, Dmrt1, Nanos3, c-Kit, Cdk6, Cdkn1a, Fgf4, Klf4, Dnmt3b and Dnmt3l) suggesting that these genes are direct transcriptional targets of TFAP2C in primordial germ cells. Since Tfap2c deficient primordial germ cell-like cells display cancer related deregulations in epigenetic remodeling, cell cycle and pluripotency control, the Tfap2c-knockout allele was bred onto 129S2/Sv genetic background. There, mice heterozygous for Tfap2c develop with high incidence germ cell cancer resembling human pediatric germ cell tumors. Precursor lesions can be observed as early as E16.5 in developing testes displaying persisting expression of pluripotency markers. We further demonstrate that mice with a heterozygous deletion of the TFAP2C target gene Nanos3 are also prone to develop teratomas. These data highlight TFAP2C as a critical and dose-sensitive regulator of germ cell fate.
SHRINE: Enabling Nationally Scalable Multi-Site Disease Studies
Andrew J. McMurry, Shawn N. Murphy, Douglas MacFadden, Griffin Weber, William W. Simons, John Orechia, Jonathan Bickel, Nich Wattanasin, Clint Gilbert, Philip Trevvett, Susanne Churchill, Isaac S. Kohane
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0055811
Abstract: Results of medical research studies are often contradictory or cannot be reproduced. One reason is that there may not be enough patient subjects available for observation for a long enough time period. Another reason is that patient populations may vary considerably with respect to geographic and demographic boundaries thus limiting how broadly the results apply. Even when similar patient populations are pooled together from multiple locations, differences in medical treatment and record systems can limit which outcome measures can be commonly analyzed. In total, these differences in medical research settings can lead to differing conclusions or can even prevent some studies from starting. We thus sought to create a patient research system that could aggregate as many patient observations as possible from a large number of hospitals in a uniform way. We call this system the ‘Shared Health Research Information Network’, with the following properties: (1) reuse electronic health data from everyday clinical care for research purposes, (2) respect patient privacy and hospital autonomy, (3) aggregate patient populations across many hospitals to achieve statistically significant sample sizes that can be validated independently of a single research setting, (4) harmonize the observation facts recorded at each institution such that queries can be made across many hospitals in parallel, (5) scale to regional and national collaborations. The purpose of this report is to provide open source software for multi-site clinical studies and to report on early uses of this application. At this time SHRINE implementations have been used for multi-site studies of autism co-morbidity, juvenile idiopathic arthritis, peripartum cardiomyopathy, colorectal cancer, diabetes, and others. The wide range of study objectives and growing adoption suggest that SHRINE may be applicable beyond the research uses and participating hospitals named in this report.
Gender in the Adoption and Implementation of Sex Education Policy  [PDF]
Susanne N. Beechey, Leah Curran Moon
Open Journal of Social Sciences (JSS) , 2015, DOI: 10.4236/jss.2015.37035
Abstract: We contribute to the study of gender in the US federal policymaking process by charting the relationship between the gendered meanings mobilized in the congressional debate over abstinence-only sex education policy and the gendered meanings produced within the implemented curricula. We find that abstinence-only sex education programs were rationalized in gender neutral terms in Congress while celebrating gender difference and producing explicitly gendered meanings in implementation. This contradiction between the gender neutrality of the congressional debates and the highly gendered lessons of the curricula raises important questions for how gender functions across the policy process. The argument of “what works”, abstinence or comprehension, is not enough; we need to pay attention to how it works, especially with regard to the teaching of gender inequality.
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