Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Hannelore Breitenbach-Koller"'
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:
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:
Jing Li, Mark Rinnerthaler, Johannes Hartl, Manuela Weber, Thomas Karl, Hannelore Breitenbach-Koller, Michael Mülleder, Jakob Vowinckel, Hans Marx, Michael Sauer, Diethard Mattanovich, Özge Ata, Sonakshi De, Gregor P. Greslehner, Florian Geltinger, Bill Burhans, Chris Grant, Victoria Doronina, Meryem Ralser, Maria Karolin Streubel, Christian Grabner, Stefanie Jarolim, Claudia Moßhammer, Campbell W. Gourlay, Jiri Hasek, Paul J. Cullen, Gianni Liti, Markus Ralser, Michael Breitenbach
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4637-4648 (2020)
Externí odkaz:
https://doaj.org/article/ca33687db4764dc69874932343b3fe4a
Autor:
Alfred Klausegger, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer, Martin Laimer
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2460 (2022)
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the COL7A1 gene that impai
Externí odkaz:
https://doaj.org/article/d631285d228a4973b9c43d3910ce1106
Autor:
Simon Auer, Mark Rinnerthaler, Johannes Bischof, Maria Karolin Streubel, Hannelore Breitenbach-Koller, Roland Geisberger, Elmar Aigner, Janne Cadamuro, Klaus Richter, Mentor Sopjani, Elisabeth Haschke-Becher, Thomas Klaus Felder, Michael Breitenbach
Publikováno v:
Frontiers in Oncology, Vol 7 (2017)
NADPH oxidases of human cells are not only functional in defense against invading microorganisms and for oxidative reactions needed for specialized biosynthetic pathways but also during the past few years have been established as signaling modules. I
Externí odkaz:
https://doaj.org/article/bce0d497c3664b568e8740e6ef03cc0e
Autor:
Tobias von der Haar, Jane E. Leadsham, Aimie Sauvadet, Daniel Tarrant, Ilectra S. Adam, Kofo Saromi, Peter Laun, Mark Rinnerthaler, Hannelore Breitenbach-Koller, Michael Breitenbach, Mick F. Tuite, Campbell W. Gourlay
Publikováno v:
Open Biology, Vol 7, Iss 1 (2017)
Life requires the maintenance of molecular function in the face of stochastic processes that tend to adversely affect macromolecular integrity. This is particularly relevant during ageing, as many cellular functions decline with age, including growth
Externí odkaz:
https://doaj.org/article/0ad54d1cb8dd4146aa3ba4fd5e0beb81
Autor:
Alfred, Klausegger, Niklas, Jeschko, Markus, Grammer, Jan, Cemper-Kiesslich, Franz, Neuhuber, Anja, Diem, Hannelore, Breitenbach-Koller, Gabriele, Sander, Dieter, Kotzot, Johann Wolfgang, Bauer, Martin, Laimer
Publikováno v:
Diagnostics (Basel, Switzerland). 12(10)
DystrophicThus, the EB panel sequencing of genomic DNA, followed by a paternity test and analysis of microsatellite markers, as well as multiplex ligation-dependent probe amplification (MLPA) copy number analysis using patient and parental DNA, were
Autor:
Stefanie Jarolim, Hans Marx, Thomas Karl, Johannes Hartl, Gianni Liti, Jiri Hasek, Özge Ata, Manuela Weber, Bill Burhans, Maria Karolin Streubel, Gregor P Greslehner, Jing Li, Campbell W. Gourlay, Hannelore Breitenbach-Koller, Diethard Mattanovich, Paul J. Cullen, Florian Geltinger, Mark Rinnerthaler, Claudia Moßhammer, Jakob Vowinckel, Michael Mülleder, Michael Sauer, Michael Breitenbach, Chris M. Grant, Meryem Ralser, Sonakshi De, Christian Grabner, Markus Ralser, Victoria Doronina
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 12, Pp 4637-4648 (2020)
G3: Genes|Genomes|Genetics
G3
G3, Genetics Society of America, 2020, 10 (12), pp.4637-4648. ⟨10.1534/g3.120.401537⟩
Li, J, Rinnerthaler, M, Hartl, J, Weber, M, Karl, T, Breitenbach-Koller, H, Mülleder, M, Vowinckel, J, Marx, H, Sauer, M, Mattanovich, D, Ata, Ö, De, S, Greslehner, G P, Geltinger, F, Burhans, B, Grant, C, Doronina, V, Ralser, M, Streubel, M K, Grabner, C, Jarolim, S, Moßhammer, C, Gourlay, C W, Hasek, J, Cullen, P J, Liti, G, Ralser, M & Breitenbach, M 2020, ' Slow Growth and Increased Spontaneous Mutation Frequency in Respiratory Deficient afo1-Yeast Suppressed by a Dominant Mutation in ATP3 ', G3: Genes, Genomes, Genetics (Bethesda), vol. 10, no. 12, pp. 4637-4648 . https://doi.org/10.1534/g3.120.401537
G3: Genes | Genomes | Genetics (G3)
G3: Genes|Genomes|Genetics
G3
G3, Genetics Society of America, 2020, 10 (12), pp.4637-4648. ⟨10.1534/g3.120.401537⟩
Li, J, Rinnerthaler, M, Hartl, J, Weber, M, Karl, T, Breitenbach-Koller, H, Mülleder, M, Vowinckel, J, Marx, H, Sauer, M, Mattanovich, D, Ata, Ö, De, S, Greslehner, G P, Geltinger, F, Burhans, B, Grant, C, Doronina, V, Ralser, M, Streubel, M K, Grabner, C, Jarolim, S, Moßhammer, C, Gourlay, C W, Hasek, J, Cullen, P J, Liti, G, Ralser, M & Breitenbach, M 2020, ' Slow Growth and Increased Spontaneous Mutation Frequency in Respiratory Deficient afo1-Yeast Suppressed by a Dominant Mutation in ATP3 ', G3: Genes, Genomes, Genetics (Bethesda), vol. 10, no. 12, pp. 4637-4648 . https://doi.org/10.1534/g3.120.401537
G3: Genes | Genomes | Genetics (G3)
A yeast deletion mutation in the nuclear-encoded gene, AFO1, which codes for a mitochondrial ribosomal protein, led to slow growth on glucose, the inability to grow on glycerol or ethanol, and loss of mitochondrial DNA and respiration. We noticed tha
Autor:
Tobias Welponer, Hannelore Breitenbach-Koller, Johann W. Bauer, Arno Hintersteininger, Josefina Piñón-Hofbauer, Martin Laimer, Christine Prodinger
Publikováno v:
Dermatology and Therapy
New insights into molecular genetics and pathomechanisms in epidermolysis bullosa (EB), methodological and technological advances in molecular biology as well as designated funding initiatives and facilitated approval procedures for orphan drugs have