Zobrazeno 1 - 10
of 446
pro vyhledávání: '"Janine Altmüller"'
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:
Emanuel Wyler, Chris Lauber, Artür Manukyan, Aylina Deter, Claudia Quedenau, Luiz Gustavo Teixeira Alves, Claudia Wylezich, Tatiana Borodina, Stefan Seitz, Janine Altmüller, Markus Landthaler
Publikováno v:
Environment International, Vol 190, Iss , Pp 108875- (2024)
Wastewater contains an extensive reservoir of genetic information, yet largely unexplored. Here, we analyzed by high-throughput sequencing total nucleic acids extracted from wastewater samples collected during a 17 month-period in Berlin, Germany. By
Externí odkaz:
https://doaj.org/article/977e07925ec5407ca63fc2b9ce9ce81e
Autor:
Muhammad Ahmer Jamil, Rawya Al-Rifai, Nicole Nuesgen, Janine Altmüller, Johannes Oldenburg, Osman El-Maarri
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Coagulation Factor VIII (FVIII) plays a pivotal role in the coagulation cascade, and deficiencies in its levels, as seen in Hemophilia A, can lead to significant health implications. Liver sinusoidal endothelial cells (LSECs) are the ma
Externí odkaz:
https://doaj.org/article/7213597cbc6f4b008dd82651c72b8c20
Autor:
Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segme
Externí odkaz:
https://doaj.org/article/562f2d8f33f64894b552c46d64c66672
Autor:
Ilyas Ahmad, Juliane Lokau, Birte Kespohl, Naveed Altaf Malik, Shahid Mahmood Baig, Roland Hartig, Daniel Behme, Roland Schwab, Janine Altmüller, Muhammad Jameel, Sören Mucha, Holger Thiele, Muhammad Tariq, Peter Nürnberg, Jeanette Erdmann, Christoph Garbers
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes availa
Externí odkaz:
https://doaj.org/article/37abbe8ef1aa4c21a5485f639564dcf7
Autor:
Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Abstract Objective The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing
Externí odkaz:
https://doaj.org/article/4fb452d9a8a04925b6c0834c25eac553
Autor:
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by som
Externí odkaz:
https://doaj.org/article/ceff460c817f43bdbaa50221fb814e9a
Autor:
Jan-Michel Heger, Julia Mattlener, Laman Mammadova, Sophia Sobesky, Melita Cirillo, Janine Altmüller, Elisabeth Kirst, Sarah Reinke, Wolfram Klapper, Paul J Bröckelmann, Justin Ferdinandus, Roland T Ullrich, Max Freihammer, Sabine Awerkiew, Mia Lohmann, Florian Klein, Peter Nürnberg, Michael Hallek, Andreas Engert, Peter Borchman, Bastian von Tresckow, Sven Borchmann
Publikováno v:
HemaSphere, Vol 7, p e8618132 (2023)
Externí odkaz:
https://doaj.org/article/79607bef1f9e47c8b135e818f59cfcd8
Autor:
Mengjie Zhu, Fabian Metzen, Mark Hopkinson, Janina Betz, Juliane Heilig, Jassi Sodhi, Thomas Imhof, Anja Niehoff, David E. Birk, Yayoi Izu, Marcus Krüger, Andrew A. Pitsillides, Janine Altmüller, Gerjo J.V.M. van Osch, Volker Straub, Gudrun Schreiber, Mats Paulsson, Manuel Koch, Bent Brachvogel
Publikováno v:
iScience, Vol 26, Iss 7, Pp 107225- (2023)
Summary: Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leadi
Externí odkaz:
https://doaj.org/article/9b9be6f40bdd4d2e8ab523d6005f0342
Autor:
Alina Meeser, Christoph Bartenhagen, Lisa Werr, Anna-Maria Hellmann, Yvonne Kahlert, Nadine Hemstedt, Peter Nürnberg, Janine Altmüller, Sandra Ackermann, Barbara Hero, Thorsten Simon, Martin Peifer, Matthias Fischer, Carolina Rosswog
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Background Telomere maintenance mechanisms (TMM) are a hallmark of high-risk neuroblastoma, and are conferred by activation of telomerase or alternative lengthening of telomeres (ALT). However, detection of TMM is not yet part of the clinica
Externí odkaz:
https://doaj.org/article/04d7590f1e6a4f35ba877b94d65b186b