1,721,038 research outputs found
Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation
No full textTransglutaminases (TGs) are structurally and functionally related enzymes that modify the post-translational structure and activity of proteins or peptides, and thus are able to turn on or switch off their function. Depending on location and activities, TGs are able to modify the signalling, the function and the fate of cells and extracellular connective tissues. Besides mouse models, human diseases enable us to appreciate the function of various TGs. In this study, skin diseases induced by genetic damages or autoimmune targeting of these enzymes will be discussed. TG1, TG3 and TG5 contribute to the cutaneous barrier and thus to the integrity and function of epidermis. TGM1 mutations related to autosomal recessive ichthyosis subtypes, TGM5 mutations to a mild epidermolysis bullosa phenotype and as novelty TGM3 mutation to uncombable hair syndrome will be discussed. Autoimmunity to TG2, TG3 and TG6 may develop in a few of those genetically determined individuals who lost tolerance to gluten, and manifest as coeliac disease, dermatitis herpetiformis or gluten-dependent neurological symptoms, respectively. These gluten responder diseases commonly occur in combination. In autoimmune diseases, the epitope spreading is remarkable, while in some inherited pathologies, a unique compensation of the lost enzyme function is noted.</p
Mutations of IL36RN in four patients with generalized pustular psoriasis of German, Turkish and Iraquian origin
No full textMutations of IL36RN in four patients with generalized pustular psoriasis of German, Turkish and Iraquian origin
No full textExpanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
No full textP>Background Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants. Objectives To identify the underlying mutations in patients with EI and to correlate genotype and phenotype. Methods Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes. Results We identified 14 different mutations, of which four have not been published previously. Conclusions Identification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis
No full textIchthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance. Based on clinical, histological and genetic findings, autosomal recessive lamellar ichthyosis (ultrastructural electron microscopy type III) was diagnosed. Severe generalized hypohidrosis both at rest and after physical exercise (bicycle ergometer) was documented. Oral treatment with retinoids not only markedly improved the skin condition but also restarted the ability of the patient to thermoregulate by perspiration. The normalization of sweat-gland function was confirmed by gravimetrically measuring sweat rates before and after retinoid treatment. This report shows that retinoid therapy can markedly improve the quality of life in patients with generalized lamellar ichthyosis by reconstitution of perspiration
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