70 research outputs found

    Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma

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    Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair and mild palmoplantar keratoderma, but without a cardiac phenotype, we identified a homozygous splice site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of tuftelin 1 protein. Patients' skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that tuftelin 1 is positioned within the desmosome and its location dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1 knock-out mouse model mimicked the patients' phenotypes. Altogether, this study reveals tuftelin 1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair and palmoplantar keratoderma

    Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma

    Get PDF
    Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair and mild palmoplantar keratoderma, but without a cardiac phenotype, we identified a homozygous splice site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of tuftelin 1 protein. Patients' skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that tuftelin 1 is positioned within the desmosome and its location dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1 knock-out mouse model mimicked the patients' phenotypes. Altogether, this study reveals tuftelin 1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair and palmoplantar keratoderma.</p

    Large Synoptic Survey Telescope Galaxies Science Roadmap

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    The Large Synoptic Survey Telescope (LSST) will enable revolutionary studies of galaxies, dark matter, and black holes over cosmic time. The LSST Galaxies Science Collaboration has identified a host of preparatory research tasks required to leverage fully the LSST dataset for extragalactic science beyond the study of dark energy. This Galaxies Science Roadmap provides a brief introduction to critical extragalactic science to be conducted ahead of LSST operations, and a detailed list of preparatory science tasks including the motivation, activities, and deliverables associated with each. The Galaxies Science Roadmap will serve as a guiding document for researchers interested in conducting extragalactic science in anticipation of the forthcoming LSST era

    Studenters förberedelser vid köp på internet

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    The implication of e-commerce into our society has revolutionized the way consumers purchase products, and consumer buying behavior. The Internet enables consumers to access a global range of products, which are delivered directly to their own homes, and all within the confines of their own home.We have chosen to investigate students in a middle-size town as a consumer group. Students are a particularly interesting consumer group due to the facts that they have unique conditions in their day-to-day consumption. Young age, a restrictive monthly budget and relatively well educated in the use of internet are characteristics that can attributed to most students, and are of great significance in regard to the buying process on the internet. With this in mind we have shaped a purpose for this essay.The purpose of this essay is to broaden our understanding of students’ preparations before conducting a purchase on the Internet, this will be achieved through studying students buying behavior.The study shall also aim at broadening the seller’s knowledge of consumer preferences on the Internet in regard to how they prepare for a upcoming purchase.The result will highlight the problem definition and will be put into perspective with the entire buying process.The theories, which shall lie as the foundation for the analysis of our investigation, are drawn from results of past studies within the research area. In addition we will include established theories within marketing in order to put our own research in a broader context.The study is conducted in a deductive method and we also describe it as comparative as we will relate our results to the results of past studies within the same research area. The main conclusions of this study are:- Student preparation for purchases on the Internet is highly based on past experience and personal preference.- Student preparation for purchases on the Internet is done within and outside of the Internet.- Students associate purchases on the Internet with positive and negative feelings.- The positive associations can lead to impulse purchases of related products.We present this study’s implications for students as a consumer group and for sellers on the Internet, and we end the essay with propositions for further research within the area.Validerat; 20131001 (global_studentproject_submitter
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