Search Results - "Bauer, Johann Wolfgang"
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Identifying drug allergies by means of exposure testing - the frequency and nature of hypersensitivity reactions
Published in Postȩpy dermatologii i alergologii (01-01-2022)“…Drug hypersensitivity reactions are dose-independent, unpredictable, and immune-mediated type B adverse drug reactions (ADR) in patients sensitized to a…”
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A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa
Published in Molecular therapy. Nucleic acids (03-09-2021)“…Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic…”
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COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa
Published in Frontiers in medicine (25-08-2022)“…Background Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding…”
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Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status
Published in Diagnostics (Basel) (11-10-2022)“…Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous…”
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Loss of efficacy of topical 5% permethrin for treating scabies: an Austrian single-center study
Published in The Journal of dermatological treatment (17-02-2022)“…Scabies is a contagious, itchy, parasitic infection of the skin. It is transmitted by skin-to-skin contact or by contact with contaminated material. Recent…”
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Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa
Published in Journal of investigative dermatology (01-10-2020)“…End-joining‒based gene editing is frequently used for efficient reframing and knockout of target genes. However, the associated random, unpredictable, and…”
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Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases
Published in Molecular therapy (01-11-2017)“…With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for…”
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How to analyze continuous and discrete repeated measures in small‐sample cross‐over trials?
Published in Biometrics (01-12-2023)“…To optimize the use of data from a small number of subjects in rare disease trials, an at first sight advantageous design is the repeated measures cross‐over…”
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Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa
Published in Molecular therapy (03-08-2022)“…Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by mutations in genes encoding laminin-332, type XVII collagen (C17),…”
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Recessive Dystrophic IEpidermolysis bullosa/I due to Hemizygous 40 kb Deletion of ICOL7A1/I and the Proximate IPFKFB4/I Gene Focusing on the Mutation c.425AG Mimicking Homozygous Status
Published in Diagnostics (Basel) (01-10-2022)“…Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous…”
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Journal Article