Explanipedia

Mutual reinforcement of lymphotoxin-driven myositis and impaired autophagy in murine muscle Open

Juliane Bremer, Judith Nagel, Jana Zschüntzsch, Kamil K. Zajt, Tayfun Palaz , et al. · 2025

Inclusion body myositis (IBM) is a progressive muscle disorder characterized by inflammation and degeneration with altered proteostasis. To better understand the interrelationship between these two features, we aimed to establish a novel p…

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa Open

Igor Petković, Johannes Bischof, Thomas Köcher, Oliver Patrick March, Bernadette Liemberger , et al. · 2022

Background Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together. CRISPR…

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa Open

Johannes Bischof, Oliver Patrick March, Bernadette Liemberger, Simone Haas, Stefan Hainzl , et al. · 2022

Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer Open

Katharina Woess, Yuchen Sun, Hanae Morio, Anna Stierschneider, Anna Kaufmann , et al. · 2022

Conventional anti-cancer therapies based on chemo- and/or radiotherapy represent highly effective means to kill cancer cells but lack tumor specificity and, therefore, result in a wide range of iatrogenic effects. A promising approach to o…

Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial Open

Christina Guttmann‐Gruber, Josefina Piñón Hofbauer, B. Tockner, Victoria Reichl, Alfred Klausegger , et al. · 2021

Advancing novel therapies for ichthyoses Open

Matthias Schmuth, Julia Reichelt, Robert Gruber · 2020

Linked Article: Valentin et al. Br J Dermatol 2021; 184:1123–1131.

Gene expression is stable in a complete CIB1 knockout keratinocyte model Open

E. Imahorn, Magomet Aushev, Stefan Herms, Per Hoffmann, Sven Cichon , et al. · 2020

Epidermodysplasia verruciformis (EV) is a genodermatosis characterized by the inability of keratinocytes to control cutaneous β-HPV infection and a high risk for non-melanoma skin cancer (NMSC). Bi-allelic loss of function variants in TMC6…

A cancer stem cell-like phenotype is associated with miR-10b expression in aggressive squamous cell carcinomas Open

Monika Wimmer, Roland Zauner, Michael Ablinger, Josefina Piñón Hofbauer, Christina Guttmann‐Gruber , et al. · 2020

Background Cutaneous squamous cell carcinomas (cSCC) are the primary cause of premature deaths in patients suffering from the rare skin-fragility disorder recessive dystrophic epidermolysis bullosa (RDEB), which is in marked contrast to th…

MiRNA-10b marks aggressive squamous cell carcinomas, and confers a cancer stem cell-like phenotype Open

Monika Wimmer, Roland Zauner, Michael Ablinger, Josefina Piñón Hofbauer, Christina Guttmann‐Gruber , et al. · 2020

Background Cutaneous squamous cell carcinomas (cSCC) are the primary cause of premature deaths in patients suffering from the rare skin-fragility disorder recessive dystrophic epidermolysis bullosa, which is in marked contrast to the rarel…

Arginine‐ but not alanine‐rich carboxy‐termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti Open

Patricia Renz, E. Imahorn, I. Spoerri, Magomet Aushev, Oliver Patrick March , et al. · 2019

Ichthyosis with confetti (IWC) is a genodermatosis associated with dominant‐negative variants in keratin 10 ( KRT10 ) or keratin 1 ( KRT1 ). These frameshift variants result in extended aberrant proteins, localized to the nucleus rather th…

Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination Open

Thomas Köcher, Roland N. Wagner, Alfred Klausegger, Christina Guttmann‐Gruber, Stefan Hainzl , et al. · 2019

Current gene-editing approaches for treatment of recessive dystrophic epidermolysis bullosa (RDEB), an inherited, severe form of blistering skin disease, suffer from low efficiencies and safety concerns that complicate implementation in cl…

Epidermolysis bullosa: Advances in research and treatment Open

Christine Prodinger, Julia Reichelt, Johann Bauer, Martin Laimer · 2019

Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, a…

Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes Open

Oliver Patrick March, Thomas Lettner, Alfred Klausegger, Michael Ablinger, Thomas Köcher , et al. · 2019

Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce fra…

Low-dose calcipotriol can elicit wound closure, anti-microbial, and anti-neoplastic effects in epidermolysis bullosa keratinocytes Open

Christina Guttmann‐Gruber, B. Tockner, Cornelia Scharler, Clemens Hüttner, John Common , et al. · 2018

Anex vivoRNAtrans‐splicing strategy to correct human generalized severe epidermolysis bullosa simplex Open

Patricia Peking, Jenny Breitenbach, Michael Ablinger, Wolfgang Muss, F.J. Poetschke , et al. · 2018

Our data demonstrate that trans-splicing-mediated mRNA therapy is an effective method for the correction of dominantly inherited KRT14 mutations at the transcriptional level. This results in the rescue of the EBS-gen sev phenotype and stab…

Reduced Microbial Diversity Is a Feature of Recessive Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds Open

Ignacia Fuentes, Christina Guttmann‐Gruber, Angeline Su Ling Tay, Josefina Piñón Hofbauer, Simon Denil , et al. · 2018

Advances on potential therapeutic options for epidermolysis bullosa Open

Laura De Rosa, Ulrich Koller, Johann Bauer, Michele De Luca, Julia Reichelt · 2018

Introduction: Epidermolysis bullosa is a severe genodermatosis in which pain and wound management dominate patients’ lives leaving a high demand for more effective treatments. At present, gene therapy is the only treatment with the potenti…

RNA Trans-Splicing Modulation via Antisense Molecule Interference Open

Bernadette Liemberger, Josefina Piñón Hofbauer, Verena Wally, Claudia Arzt, Stefan Hainzl , et al. · 2018

In recent years, RNA trans-splicing has emerged as a suitable RNA editing tool for the specific replacement of mutated gene regions at the pre-mRNA level. Although the technology has been successfully applied for the restoration of protein…

Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma Open

Yuchen Sun, Katharina Woess, Melanie Kienzl, Victoria Reichl, Andrea Feinle , et al. · 2017

Extracellular vesicles (EVs) are cell-derived membrane-bound vesicles that are important mediators of intercellular communication, and critical orchestrators of both physiological and pathologic processes. They are found in various biologi…

Regeneration of the entire human epidermis using transgenic stem cells Open

Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Johann Bauer, Graziella Pellegrini , et al. · 2017

189 Improved safety profile: An efficient CRISPR/Cas9 double nicking approach for KRT14 repair in EB simplex Open

Thomas Köcher, Patricia Peking, Alfred Klausegger, Eva M. Murauer, Josefina Piñón Hofbauer , et al. · 2017

599 Deregulation of miR-10b affects HOXD10 expression in squamous cell carcinoma from epidermolysis bullosa patients Open

Monika Wimmer, Roland Zauner, Thomas Lettner, Norbert Niklas, S. Atzmüller , et al. · 2017

560 Transcriptome profiling in recessive dystrophic epidermolysis bullosa patients Open

Roland Zauner, Monika Wimmer, Thomas Lettner, Christina Guttmann‐Gruber, Eva M. Murauer , et al. · 2017

117 Using a bivalent DNA aptamer to reduce blister formation in recessive dystrophic epidermolysis bullosa Open

Thomas Lettner, Manuela Reisenberger, H. A. Reitsamer, Johann Bauer, Julia Reichelt , et al. · 2017

Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases Open

Thomas Köcher, Patricia Peking, Alfred Klausegger, Eva M. Murauer, Josefina Piñón Hofbauer , et al. · 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 recessively and dominantly inherited monogenic disorders. In this study, we have c…

An RNA-targeted therapy for dystrophic epidermolysis bullosa Open

Patricia Peking, Ulrich Koller, Blanca Duarte, Rodolfo Murillas, Susanne A. Wolf , et al. · 2017

Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA…

COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa Open

Stefan Hainzl, Patricia Peking, Thomas Köcher, Eva M. Murauer, Fernando Larcher , et al. · 2017

Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-direc…

Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients Open

Magomet Aushev, Ulrich Koller, Claudio Mussolino, Toni Cathomen, Julia Reichelt · 2017

28 Successful gene editing of human embryonic stem cells to generate a novel CF airway epithelial model Open

Sara Cuevas Ocaña, Magomet Aushev, Julia Reichelt, Neil D. Perkins, Michael A. Gray · 2017

534 TALEN-mediated gene editing of keratinocyte stem cells for a novel e x vivo epidermolytic ichthyosis therapy Open

Oliver Patrick March, Magomet Aushev, Ulrich Koller, Julia Reichelt · 2017

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