Zobrazeno 1 - 10
of 278
pro vyhledávání: '"Johann W, Bauer"'
Autor:
Johan Verbeeck, Maya Dirani, Johann W. Bauer, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background When assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to select a single meaningful endpoint. However, a single endpoint is often not sufficient to ref
Externí odkaz:
https://doaj.org/article/ea913cf492904807965358ff0418ff36
Autor:
Bjoern Wimmer, Jan Schernthaner, Genevieve Edobor, Andreas Friedrich, Katharina Poeltner, Gazmend Temaj, Marlies Wimmer, Elli Kronsteiner, Mara Pichler, Hanna Gercke, Ronald Huber, Niklas Kaefer, Mark Rinnerthaler, Thomas Karl, Jan Krauß, Thomas Mohr, Christopher Gerner, Helmut Hintner, Michael Breitenbach, Johann W. Bauer, Christin Rakers, Daniel Kuhn, Joerg von Hagen, Norbert Müller, Adriana Rathner, Hannelore Breitenbach-Koller
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8430 (2024)
Elastin, a key structural protein essential for the elasticity of the skin and elastogenic tissues, degrades with age. Replenishing elastin holds promise for anti-aging cosmetics and the supplementation of elastic activities of the cardiovascular sys
Externí odkaz:
https://doaj.org/article/99b030c6f0ea42c88c7ba9697dc7e30b
Autor:
Bjoern Wimmer, Andreas Friedrich, Katharina Poeltner, Genevieve Edobor, Claudia Mosshammer, Gazmend Temaj, Adriana Rathner, Thomas Karl, Jan Krauss, Joerg von Hagen, Christopher Gerner, Michael Breitenbach, Helmut Hintner, Johann W. Bauer, Hannelore Breitenbach-Koller
Publikováno v:
JID Innovations, Vol 4, Iss 1, Pp 100240- (2024)
Severe junctional epidermolysis bullosa is a rare genetic, postpartum lethal skin disease, predominantly caused by nonsense/premature termination codon (PTC) sequence variants in LAMB3 gene. LAMB3 encodes LAMB3, the β subunit of epidermal–dermal s
Externí odkaz:
https://doaj.org/article/4d88c64922d84de5a93446e34553b30c
Autor:
Stefan Hainzl, Lisa Trattner, Bernadette Liemberger, Johannes Bischof, Thomas Kocher, Michael Ablinger, Alexander Nyström, Astrid Obermayer, Alfred Klausegger, Christina Guttmann-Gruber, Verena Wally, Johann W. Bauer, Josefina Piñón Hofbauer, Ulrich Koller
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 761 (2024)
Antisense oligonucleotides (ASOs) represent an emerging therapeutic platform for targeting genetic diseases by influencing various aspects of (pre-)mRNA biology, such as splicing, stability, and translation. In this study, we investigated the potenti
Externí odkaz:
https://doaj.org/article/f6c6fac63a0c44b4a531dd18e342149b
Autor:
Ulrich Koller, Johann W. Bauer
Publikováno v:
Journal of Dermatological Treatment, Vol 35, Iss 1 (2024)
Background: Epidermolysis bullosa (EB) is a clinically-heterogeneous genodermatosis with severe manifestations in the skin and other organs. The significant burden this condition places on patients justifies the development of gene therapeutic strate
Externí odkaz:
https://doaj.org/article/2f64923773af4b3ca1dd50a9681474f5
Autor:
Roland Zauner, Monika Wimmer, Sabine Atzmueller, Johannes Proell, Norbert Niklas, Michael Ablinger, Manuela Reisenberger, Thomas Lettner, Julia Illmer, Sonja Dorfer, Ulrich Koller, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Verena Wally
Publikováno v:
Cancers, Vol 15, Iss 13, p 3286 (2023)
Machine learning has been proven to be a powerful tool in the identification of diagnostic tumor biomarkers but is often impeded in rare cancers due to small patient numbers. In patients suffering from recessive dystrophic epidermolysis bullosa (RDEB
Externí odkaz:
https://doaj.org/article/3ec85db4a34a49dfa1d56148f83729d1
Autor:
Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer, Roland Lang, Martin Laimer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Wound management is a critical factor when treating patients with the inherited skin fragility disease dystrophic epidermolysis bullosa (DEB). Due to genetic defects in structural proteins, skin and mucous epithelia are prone to b
Externí odkaz:
https://doaj.org/article/97b40c2da2df4214a64bb591a0e70e81
Autor:
Roland N. Wagner, Michael Wießner, Andreas Friedrich, Johanna Zandanell, Hannelore Breitenbach-Koller, Johann W. Bauer
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6101 (2023)
Nonsense mutations trigger premature translation termination and often give rise to prevalent and rare genetic diseases. Consequently, the pharmacological suppression of an unscheduled stop codon represents an attractive treatment option and is of hi
Externí odkaz:
https://doaj.org/article/7a7c6fe34b3049b8b3b1482dac958bfc
Autor:
Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5197 (2023)
Junctional epidermolysis bullosa (JEB) is a severe blistering skin disease caused by mutations in genes encoding structural proteins essential for skin integrity. In this study, we developed a cell line suitable for gene expression studies of the JEB
Externí odkaz:
https://doaj.org/article/8c52ef14208f4739ac1efe18d991c482
Autor:
Susanne M. Brunner, Andrea Ramspacher, Caroline Rieser, Julia Leitner, Hannah Heil, Michael Ablinger, Julia Tevini, Monika Wimmer, Andreas Koller, Josefina Piñón Hofbauer, Thomas K. Felder, Johann W. Bauer, Barbara Kofler, Roland Lang, Verena Wally
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4324 (2023)
Psoriasis is an inflammatory skin disease characterized by increased neo-vascularization, keratinocyte hyperproliferation, a pro-inflammatory cytokine milieu and immune cell infiltration. Diacerein is an anti-inflammatory drug, modulating immune cell
Externí odkaz:
https://doaj.org/article/0135690a1e7f4ad599d99684aa30fa99