Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nikolai Tschernoster"'
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:
Pedro Ferreira, Verena Höfer, Nora Kronshage, Anika Marko, Karl-Uwe Reusswig, Bilal Tetik, Christoph Dießel, Kerstin Köhler, Nikolai Tschernoster, Janine Altmüller, Nina Schulze, Boris Pfander, Dominik Boos
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Faithful genome duplication requires regulation of origin firing to determine loci, timing and efficiency of replisome generation. Established kinase targets for eukaryotic origin firing regulation are the Mcm2-7 helicase, Sld3/Treslin/TICRR
Externí odkaz:
https://doaj.org/article/92ce71894c5a4deda55584773b6d15ac
Autor:
Max Augustin, MD, Philipp Schommers, M.D. PhD., Melanie Stecher, Ph.D., Felix Dewald, M.D., Lutz Gieselmann, M.D., Henning Gruell, M.D., Carola Horn, M.D., Kanika Vanshylla, Ph.D., Veronica Di Cristanziano, M.D., Luise Osebold, Maria Roventa, Toqeer Riaz, Nikolai Tschernoster, M.Sc, Janine Altmueller, M.D., Leonard Rose, M.D., Susanne Salomon, Ph.D., Vanessa Priesner, M.D., Jan Christoffer Luers, Prof., Christian Albus, Prof., Stephan Rosenkranz, Prof., Birgit Gathof, Prof., Gerd Fätkenheuer, Prof., Michael Hallek, Prof., Florian Klein, Prof., Isabelle Suárez, M.D., Clara Lehmann, Prof.
Publikováno v:
The Lancet Regional Health. Europe, Vol 6, Iss , Pp 100122- (2021)
Background: While the leading symptoms during coronavirus disease 2019 (COVID-19) are acute and the majority of patients fully recover, a significant fraction of patients now increasingly experience long-term health consequences. However, most data a
Externí odkaz:
https://doaj.org/article/e5d644b7a4e54dd5a3dde9608aaa3500
Autor:
Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of
Externí odkaz:
https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e
Autor:
Eike A. Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Publikováno v:
The American Journal of Human Genetics. 110:442-459
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::556fc00d3d4b347dc786441302d84c91
https://doi.org/10.1016/j.ajhg.2023.02.004
https://doi.org/10.1016/j.ajhg.2023.02.004
Autor:
Florian Erger, Rajindra Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, Maxence Noel, Andrea Wenzel, Stefan Kohl, Nikolai Tschernoster, Gunter Rappl, Jutta Schröder-Braunstein, Felix Seibert, Holger Thiele, Martin Häusler, Lutz Weber, Maike Büttner-Herold, Miriam Elbracht, Sandra Cummings, Janine Altmüller, Sandra Habbig, Richard Cummings, Bodo Beck
The galactosyltransferase T-synthase exclusively synthesizes the T-antigen, a ubiquitous Oglycan core structure. Its function is dependent on its specific molecular chaperone, Cosmc (C1GALT1C1). In two maternal half-brothers with developmental delay,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9af0cd83c115ccff4b2ac95995a5df15
https://doi.org/10.21203/rs.3.rs-1716400/v1
https://doi.org/10.21203/rs.3.rs-1716400/v1
Autor:
Nikolai Tschernoster, Florian Erger, Patrick R. Walsh, Bairbre McNicholas, Margareta Fistrek, Sandra Habbig, Anna-Lena Schumacher, Kat Folz-Donahue, Christian Kukat, Mohammad R. Toliat, Christian Becker, Holger Thiele, David Kavanagh, Peter Nürnberg, Bodo B. Beck, Janine Altmüller
Complement factor H (CFH) and its related proteins have an essential role in regulating the alternative pathway of the complement system. Mutations and structural variants (SVs) of the CFH gene cluster, consisting of CFH and its five related genes (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732e0bcb18f71ec36b290d0afad9c9d8
http://edoc.mdc-berlin.de/21545/1/21545oa.pdf
http://edoc.mdc-berlin.de/21545/1/21545oa.pdf
Autor:
Florian Erger, Malte P. Bartram, Claudia Dafinger, Bernhard Schermer, Lutz T. Weber, Sandra Habbig, Anja Buescher, Vincent K. Köntges, Bodo B. Beck, Janine Altmueller, Stefan Kohl, Bjoern Reusch, Nikolai Tschernoster, Andrea Hedergott, Francesca Fabretti, Holger Thiele
Publikováno v:
Kidney International Reports
Introduction Disease-causing mutations in the protocadherin FAT1 have been recently described both in patients with a glomerulotubular nephropathy and in patients with a syndromic nephropathy. Methods We identified 4 patients with FAT1-associated dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89562bd2acd81ddd0aa4027cc2ec08b
https://doi.org/10.1016/j.ekir.2021.01.023
https://doi.org/10.1016/j.ekir.2021.01.023
Autor:
Vera Riehmer, Rasmus Ehren, Florian Erger, Agnes Hackl, Christine Skerka, Sandra Habbig, Michael Kirschfink, Janine Altmueller, Lutz T. Weber, Andrea Wenzel, Christoph Licht, Peter F. Zipfel, Kathrin Burgmaier, Nikolai Tschernoster
Publikováno v:
Clinical Nephrology. 94:197-206
C3 glomerulonephritis (C3GN) is a rare but severe form of kidney disease caused by fluid-phase dysregulation of the alternative complement pathway. Causative mutations in complement regulating genes as well as auto-immune forms of C3GN have been desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa58f5af9daf25d28f43018ebb097577
https://doi.org/10.5414/cn110135
https://doi.org/10.5414/cn110135
Autor:
Esther Leenen, Florian Erger, Janine Altmüller, Andrea Wenzel, Holger Thiele, Ana Harth, Nikolai Tschernoster, Shanti Lokhande, Achim Joerres, Jan-Ulrich Becker, Arif Ekici, Bruno Huettel, Bodo Beck, Alexander Weidemann
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37(10)
Background The prevalence of end-stage renal disease of unknown etiology in adult patients is globally high and accounts for almost 20% of all dialysis patients. Recent studies have suggested that the percentage of adult patients with a causal geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1b9c29523d2c050c2fd6aa0807b4628
https://pubmed.ncbi.nlm.nih.gov/35485766
https://pubmed.ncbi.nlm.nih.gov/35485766