Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Lukas, Cyganek"'
Autor:
Gideon Syed Ali, Sabine Rebs, Hanna Eberl, Clarissa Zinke, Daniela Hübscher, Wiebke Maurer, Alexandra Busley, Lukas Cyganek, Katrin Streckfuss-Bömeke
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103538- (2024)
Takotsubo Syndrome (TTS) is a potentially life-threatening disease characterized by a transient left ventricular apical akinesia in response to β-adrenergic overstimulation. Since a genetic predisposition is assumed, we generated an iPSC-line carryi
Externí odkaz:
https://doaj.org/article/2d087a29afb247c79218229540a460cb
Autor:
Alexandra Viktoria Busley, Óscar Gutiérrez-Gutiérrez, Elke Hammer, Fabian Koitka, Amin Mirzaiebadizi, Martin Steinegger, Constantin Pape, Linda Böhmer, Henning Schroeder, Mandy Kleinsorge, Melanie Engler, Ion Cristian Cirstea, Lothar Gremer, Dieter Willbold, Janine Altmüller, Felix Marbach, Gerd Hasenfuss, Wolfram-Hubertus Zimmermann, Mohammad Reza Ahmadian, Bernd Wollnik, Lukas Cyganek
Publikováno v:
Cell Reports, Vol 43, Iss 7, Pp 114448- (2024)
Summary: Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. In this study, we investigate the mechanistic consequences of a homozygous variant LZTR1L5
Externí odkaz:
https://doaj.org/article/199d047ff2b846ddbbff360254a381ed
Autor:
Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101231- (2024)
Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders, forensic investigations, and basic research. Existing pipelines are complex, expensive, and require specialized personnel. In many cases, including the diagno
Externí odkaz:
https://doaj.org/article/d31d09eb2eb54ccb8689a2489ed1f56a
Autor:
Carolin Knauer, Henrike Haltern, Eric Schoger, Sebastian Kügler, Lennart Roos, Laura C. Zelarayán, Gerd Hasenfuss, Wolfram-Hubertus Zimmermann, Bernd Wollnik, Lukas Cyganek
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102123- (2024)
Gene variants in LZTR1 are implicated to cause Noonan syndrome associated with a severe and early-onset hypertrophic cardiomyopathy. Mechanistically, LZTR1 deficiency results in accumulation of RAS GTPases and, as a consequence, in RAS-MAPK signaling
Externí odkaz:
https://doaj.org/article/8ebba1ffab3c41c4a0a2fa619386fcc5
Autor:
Saeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, Julia Dahlmann, Alexandra Viktoria Busley, Marcel Buchholzer, Karolin Kleemann, Anne Schänzer, Andrea Borchardt, Andreas Hahn, Sebastian Kötter, Denny Schanze, Ruchika Anand, Florian Funk, Annette Vera Kronenbitter, Jürgen Scheller, Roland P. Piekorz, Andreas S. Reichert, Marianne Volleth, Matthew J. Wolf, Ion Cristian Cirstea, Bruce D. Gelb, Marco Tartaglia, Joachim P. Schmitt, Martina Krüger, Ingo Kutschka, Lukas Cyganek, Martin Zenker, George Kensah, Mohammad R. Ahmadian
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-18 (2023)
Abstract Noonan syndrome (NS), the most common among RASopathies, is caused by germline variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including the recurrent Ser257Leu substitution in RAF1, are associated with seve
Externí odkaz:
https://doaj.org/article/334fbffc3d50486090984e565b31f40f
Autor:
Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 9, Pp n/a-n/a (2023)
Abstract Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin. Altered cardiolipin remodeling affects mitochondri
Externí odkaz:
https://doaj.org/article/d06b0aeb0b084c3dae36b33896fa43c5
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103163- (2023)
Towards increasing the possibility for temporal control of gene expression using CRISPR activation (a) systems, we generated homozygous human induced pluripotent stem cell (hiPSC) lines carrying a doxycycline (dox)-inducible guide(g)-RNA construct ta
Externí odkaz:
https://doaj.org/article/d455d5fdeba5417497eb7fb47003fc91
Autor:
Fitzwilliam Seibertz, Markus Rapedius, Funsho E. Fakuade, Philipp Tomsits, Aiste Liutkute, Lukas Cyganek, Nadine Becker, Rupamanjari Majumder, Sebastian Clauß, Niels Fertig, Niels Voigt
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-10 (2022)
An altered automated patch-clamp (APC) approach enables high-throughput recordings from native pig cardiomyocytes and human iPSC-derived cardiomyocytes.
Externí odkaz:
https://doaj.org/article/5c7c79c8eaee40c1b5ac7523e292a2bf
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103108- (2023)
Patients harboring causative gene variants in RAS GTPase MRAS develop Noonan syndrome and early-onset hypertrophic cardiomyopathy. Here, we describe the generation of a human iPSC line harboring the Noonan syndrome-associated MRAS p.G23V variant by u
Externí odkaz:
https://doaj.org/article/1c4a242a233c473b8885a0aae89f2fc7
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103105- (2023)
Activating KRAS codon 12 gene variants are known to cause severe RAS-MAPK and PI3K-AKT signaling pathway hyperactivity and are frequently involved in the development of various carcinomas. Here, we describe the generation of a human iPSC line harbori
Externí odkaz:
https://doaj.org/article/d41ae05f63d64ff78da7c1f5e75123a9